Aurora magazine

A team of doctors from all over the world saved a newborn's life. The child suffers from a rare genetic disease which, under normal conditions, kills within a few weeks. Today the boy is 3 years old and is in remission. The article published in the New England Journal of Medicine exposes the efforts of an international team, united in a case of USP18 deficiency. Doctors have developed new genetic diagnosis and immunotherapy techniques to save a Saudi child. The baby should have died a few weeks after giving birth. Instead, he is alive and recovering from the disease.

USP18 is a gene that codes for a protein involved in the immune system, which regulates the reaction to inflammation. When an anomaly is present, uncontrolled inflammations are triggered which kill in the womb or shortly after birth. However, the researchers found that JAK1 inhibitors replace USP18, avoiding the lethal progression of the disease.

The researchers started with a young ICU patient. The little boy showed an abnormal version of USP18. Scientists analyzed it and identified the consequences of the anomalies. From here they traced the functions of the protein, identifying those critical in the progression of genetic disease. This allowed them to identify the drugs needed to keep the baby alive, while looking for more definitive treatments.

After further analysis, doctors started giving ruxolitinib twice a day. Within two weeks, the symptoms subsided and the baby improved. The child will have to take the drug for life, at least until a definitive cure is found. At the very least, he can lead an almost normal life.

Source: mountsinai.org

The congenital damage caused by the Zika virus has become a real emergency in Brazil. However, a team of scholars from the University of Oxford and the University of Rio de Janeiro noted a correlation between the socio-economic conditions of the area and the severity of the damage. According to the researchers, conditions of maternal malnutrition could aggravate congenital damage in children. There could therefore be a link between nutrition and fetal malformations.

The study shows that developmental abnormalities caused by ZIKA are more severe in the presence of malnutrition. In particular, the worst damage seems to occur in the presence of a low protein diet. This may explain why the spread of the virus has such different consequences for different areas. The infection affects the stem cells of the fetal brain, changing its genes and proteins. Doing so also changes how the cells and blood vessels develop.

The researchers then tested what happens when there is a protein deficiency caused by the diet. In the case of mice infected with Zika and subjected to a low protein diet, the congenital defects have multiplied. Healthy guinea pigs in contact with the virus have proven more resistant to infection. Those undernourished, however, have proven less able to counteract the effects of the virus. For the moment, however, it is difficult to determine how many of these observations are also valid in humans.

Source: ox.ac.uk

An international study has identified more than 350 genetic variations that increase the risk of developing breast cancer. The variants in question affect about 190 genes, which could add to those normally tested. In this way you will have an even clearer map of the genes that cause the disease, allowing you to assess its risks more precisely than today. Most diseases with a genetic basis are caused by the interaction of multiple variants.

These change the way certain genes work, even causing them to turn on or off. In such cases, finding the single variation on the single gene is not enough to get a clear idea of ​​the disease. Rather, a map containing all possible genetic influences must be made. Breast cancer is one of these diseases.

Previous studies had already identified 150 regions of the genome linked to breast cancer risk. Within each region there may be multiple genetic variants: it is rare that a given variant can be linked to a specific gene. It is therefore necessary to study how each variant influences the disease and where it is more likely to occur. To do this, you need studies like the one in question, conducted by Dr. Laura Fachal.

In the new study, the researchers studied the DNA of 110,000 people with cancer, comparing it with that of 90,000 healthy people. This allowed them to identify 352 genetic variants that influence the risk of getting sick. It is not yet fully understood which genes they link to, but researchers have identified 191 areas that could be involved.

Source: cam.ac.uk

Zinc and folic acid supplements are among the most used to improve male fertility. Nonetheless, a study by the University of Utah proves their complete uselessness, at least on this front. According to the researchers, the data show no increase in the rate of conception, birth, sperm count, motility of the same. This means that they do not improve male fertility in any way. On the market there are supplements aimed at improving male fertility. Inside there are zinc and folate, both essential substances in the development of sperm.

According to the manufacturers, taking these supplements would be a natural way to stimulate the production of stronger sperm. Still, no studies have ever provided evidence of these alleged benefits. For this specific study, the researchers involved 2,370 couples with problems conceiving. Half of the men took zinc and folic acid supplements every day; the other half simply took a placebo.

The women completed questionnaires to monitor possible conceptions. The researchers found no significant difference between the first and second groups. In the group that took the supplements, there were 404 successful pregnancies, about 34%. In that of placebo, there were 416, about 35%. The semen samples taken from the two groups also showed a similar number of spermatozoa, having roughly the same shape and motility. Curiosity, the spermatozoa taken from the first group had higher percentages of DNA abnormalities.

Source: healthsciences.utah.edu