Aurora magazine

Cytomegalovirus (CMV) is a common virus, which affects around 90% of adults. In most cases, it is completely harmless and at most causes a little fever. Sometimes, however, it turns into a lethal infection despite the person being apparently healthy. A study led by Dr. Jean-Laurent Casanova, of Rockefeller University, has perhaps revealed why.

The team investigated the case of a 54-year-old Iranian man affected by the lethal version of the cytomegalovirus. The man's immune system was in excellent condition and, in theory, he would have had to fight the virus without problems. Nonetheless, the man did not respond to treatment and continued to deteriorate. A little over two years after the diagnosis, he therefore inexplicably died of respiratory failure.

Scientists analyzed the patient's immune system and DNA, looking for an explanation. Despite the excellent health conditions, humans presented a rare variation in the NOS2 gene. The mutation causes an error in the coding of the gene, which produces a non-functioning version of the enzyme. When the enzyme does not work, macrophages are not helpless in the face of certain types of viruses.

To prove their thesis, scientists observed NOS2-free guinea pigs. Their immune system was in excellent condition, in appearance. On contact with the cytomegalovirus, it proved to be non-functional. In fact, it was as if the guinea pigs were immunosuppressed. For this reason, new treatments designed specifically for such cases will be needed.

Source: rockefeller.edu

Professor Emma Crosbie, of the University of Manchester, analyzed 2,674 extracts and 149 scientific studies concerning endometrial cancer. The observations revealed 24 genetic variants possibly underlying the disease. The discovery will help refine the search for new treatments and develop tests for early detection.

The research in question is the most complete analysis of endometrial cancer studies carried out to date. The researchers systematically analyzed all the genetic variants mentioned, assessing the reliability of the evidence and the implications. This allowed them to isolate a limited number of genetic variants linked to the tumor, identifying those with a greater relevance.

The most significant variants are 19, to which are added 5 of medium importance. The anomalies affect the HNF1B, KLF, EIF2AK, CYP19A1, SOX4 and MYC genes. All variants are related to estrogen metabolism, cell survival and transcription control. Instead, there seems to be no evidence to support the rs2279744 variant of MDM2, considered in the past to be a risk factor.

Taken individually, a genetic variant increases the risk of cancer very little. But when they start to add up, the risk also multiplies. This applies to different types of cancer, including endometrial cancer.

Specifically, the sum of the variants mentioned above increases the risk of getting sick by 3.16 times. Depending on the variants present in the genome examined, it will be possible to evaluate how likely the person is to get sick. This will facilitate any early diagnosis and the creation of personalized treatments.

Source: manchester.ac.uk

A study led by Taylor Pini, of the Colorado Center for Reproductive Medicine, analyzed the effects of obesity on male fertility. Analyzes revealed differences in the structure of 27 proteins contained in the sperm. This was despite clinical trials not showing any problems. This means that not only does weight also play a role in male fertility, but that traditional clinical analyzes may be insufficient.

The researchers started from the samples of 10 men, 5 obese and 5 normal weight. All volunteers had average sperm levels, motile and with normal morphology. Andrological analyzes had not indicated any critical issues affecting fertility. More in-depth analyzes were needed to identify important biochemical changes.

The researchers identified 2,034 sperm proteins. In the samples of obese subjects, 24 showed levels of much lower and 3 levels of much higher than the average. The anomalies were all related to proteins responsible for controlling oxidative stress, inflammation, DNA damage. In a nutshell, the spermatozoa of obese men were more prone to oxidative stress and inflammation.

According to the authors of the study, there may be a link between obesity and spermatogenesis, although not entirely clear. Too much above average weight could have serious consequences on sperm quality, not all visible with normal tests. Weight is therefore a sensitive issue not only for women who want children, but also for men.

Source: medscape.com

A swab may be enough to identify infants who are at risk of becoming deaf. In fact, the team of Dr. Bill Newman has developed a test to diagnose allergy to gentamicin. This antibiotic saves the lives of approximately 90,000 infants per year. In the presence of a particular genetic anomaly, however, it leads to hearing loss. The test in question could avoid the problem.

About one in 500 people have a genetic variant that makes them sensitive to gentamicin. This has been known for 25 years, but traditional genetic tests take days. In an emergency, it is impossible to say whether or not the newborn presents the variant in a short time. Doctors are therefore forced to give the life-saving drug immediately, all without knowing if it will cause hearing loss in the newborn.

The new test detects the genetic variant in 20 minutes. Doctors take cells with a small sample. At this point they analyze them with a machine the size of a PC, designed to look for that specific variant. If successful, doctors can prescribe alternative therapy and save the baby's hearing.

At the moment, the test is still being evaluated. Researchers are testing it in the St Mary's Hospital intensive neonatology area, already achieving excellent results. If it were used in all hospitals in the British health system, it could avoid deafness to more than 180 infants per year.

Source: independent.co.uk