Aurora magazine

Thanks to a 6-year research project, researchers at the Case Western Reserve University School of Medicine have identified 63 genetic mutations that increase the risk of prostate cancer. Genetic markers will help to improve genetic testing, determining who needs regular checks.

Previous studies have identified about 100 abnormalities related to prostate cancer. The presence of one or more of these increases the risk of developing a tumor by 50%. The study led by Dr. Schumacher went a step further, identifying 63 new genetic markers.

The team has sequenced the DNA of about 140,000 men of European ancestry. About 80,000 of these had suffered from prostate cancer. The remaining 60,000 had never shown any symptoms related to the disease. The researchers compared the data, detecting 63 genetic variants present in the first group but not in the second group.

According to the researchers, the genetic markers identified to date could only be the tip of the iceberg. The genetic anomalies related to the disease could be 500-1000, even if it will not be necessary to map them all. 10-20% of these could be enough to improve the lives of many men, so as to prevent the development of the tumor or choose the best therapy.

Prostate cancer has a strong component of familiarity. Men with a brother affected by the disease are more likely to develop it in turn. The current screening test identifies a specific prostate antigen, whose levels indicate the possibility of a tumor forming or already present. If the levels are high but there are no neoplasms, then the test must be repeated within 2 years.

Schumacher's study focuses on genetic variants for his screening test. For the moment it is still early to talk about specific genetic tests. Nevertheless, the discovery of the 63 new markers is a big step forward.

Source: medicalnewstoday.com

A genetic test could be sufficient to prevent deafness in infants treated with aminoglycosides. G.">The team of Dr. John McDermott has developed a test that identifies the genetic variant m.1555A> G. Children with this variant, in fact, are likely to become deaf because of special antibiotics against sepsis.

Every year in the United Kingdom there are 90,000 admissions in neonatal intensive care. Almost half of the small patients receive antibiotic therapy, largely a combination of beta-lactams and gentamicin. In some rare cases, however, the class of antibiotics aminoglycosides causes deafness in younger patients. The phenomenon could be linked to a particular genetic predisposition.

The study shows the importance of a neonatal genetic test, so as to avoid the side effects of antibiotic therapy. Identifying patients with the mutation within one hour would allow doctors to prescribe alternative drugs. In this way 180 cases of deafness could be avoided every year.

Unfortunately, the genetic tests used to date in British hospitals require 3 days to give the first results. The test developed by McDermott requires only 40 minutes instead. It is a non-invasive test that requires only a small sample of cells to analyze DNA. The goal is to introduce the test in neonatal wards by the end of 2018.

Source: medpagetoday.com

Two months of stress are enough to reduce the quality of the sperm. This is suggested by an Israeli study conducted on 11,000 semen samples. According to the researchers, stress increases the risk of slow sperm by 47%. This affects male fertility and in some cases even prevents children.

The researchers analyzed 10,535 samples collected between 2009 and 2017, in relatively stress-free periods for the country. They compared them with 659 samples taken in the two months following military clashes between Israel and Hamas in 2014. The average age of men was 32, the average age of the first child in the United Kingdom.

The results showed how stress is relevant to male fertility. 37% of the samples collected during the conflicts showed reduced motility. This means that in the long run, stress can affect male fertility semi-permanently.

The study focused on men who lived in areas of military conflict. Nevertheless, according to the researchers, the study applies to all types of stress. The results would then be valid also for those who have lost their jobs, suffered a mourning or experienced a traumatic event. Whatever causes mental stress, it would be detrimental to fertility.

It is clear that mental health has a strong impact on fertility, in the same way as other lifestyle factors. Unfortunately, research in this regard is low, so it is not known for sure how mental stress acts on spermatozoa.

Source: news-medical.net

A study led by Professor Sylvia Becker-Dreps shows how the Tdap vaccine during pregnancy reduces the risk of pertussis in infants. According to the teacher, the vaccine protects the baby for over 18 months after giving birth.

Pertussis is a serious respiratory infection that can also lead to death in newborns. In the United States, there has been an increase in cases since 2000. For this reason, doctors recommend to inoculate the vaccine at 2, 4 and 6 months. In 2013, the Centers for Disease Prevention and Control began recommending the Tdap vaccine during pregnancy.

The Tdap protects against tetanus, diphtheria and whooping cough. If inoculated during pregnancy, maternal antibodies cross the placenta and protect the fetus even after delivery. The recommendation was based however on immunological data. For this reason, Professor Becker-Dreps conducted a clinical trial that confirmed the efficacy of the vaccine.

The study analyzed more than 675,000 pregnancies in the United States, conducted between 2010 and 2014. The researchers compared the data of women who received the Tdap and those of hospitalized newborns. From what emerged, the inoculated vaccine during pregnancy protects the fetus for at least 6 months after delivery. At this point the child is big enough to receive the vaccine directly.

Among children exposed to the vaccine, there was a 75% reduction in the number of hospitalizations and 46% of pertussis cases. The rate of effectiveness was high in cases of vaccinations performed at the end of the third quarter. Instead, it was revealed null in how many had performed the vaccine in the first trimester. The best time to get vaccinated would therefore be between the 27th and the 36th week of gestation.

Source: med.unc.edu