Aurora magazine

Insomnia is a problem affecting millions of people around the world. A study by psychiatrist Murray Stein has confirmed that this condition is hereditary. People suffering from insomnia often have a genetic mutation that makes it harder to fall asleep.

For many years, scholars believe that insomnia has genetic causes. Studies on twins have confirmed this theory 10 years ago. Nevertheless, no one has ever identified the genetic factors responsible for this condition. To answer this still open question, Dr. Stein's team analyzed the DNA of 33,000 soldiers.
Genome analyzes have shown a link between insomnia and anomalies in specific regions. In particular, mutations in chromosome 7 and chromosome 9 appear to be the most likely causes.

According to the team, the variant on chromosome 7 also involves the AUTS2 gene, linked to excessive alcohol consumption. In addition, subjects of European ancestry have shown a link between sleep disorders, depression and diabetes. All of these problems could have common genetic causes.

There are still many things to be clarified, but it is clear that insomnia has genetic causes and that these are hereditary. The confirmations come from a series of different studies. That of Dr. Stein has indeed placed on the wake of a research last year. In that case, the researchers had analyzed the DNA of 110,000 individuals. They identified genes related to insomnia, anxiety, depression and other psychiatric problems.

For now, the researchers claim to have identified 956 genes involved in insomnia problems. However, other studies will be needed to dig deeper.

Source: sciencealert.com

The Penn Medicine researchers analyzed the impact of genetic testing for the CYP2C19 genotype. According to the study, immediate access to test results reduces the need for unnecessary drug treatments.

One of the most common treatments against arterial blockages is percutaneous coronary intervention. This is a non-invasive procedure, after which doctors prescribe aspirin and antiplatelet drugs. In this way the formation of plaques inside the arteries is avoided. Some patients respond negatively to this type of drug treatment.

According to some studies, the ineffective or negative response is linked to a mutation of the CYP2C19 gene. The person presenting the mutation should receive a different pharmacological treatment. The researchers then entered the genetic mutation test in the clinical protocol of 249 patients. The idea was to provide their doctors with immediate data on the presence or absence of this anomaly.

The study involved 504 patients: 249 performed the test; 255 who did not do it. Patients who did the genetic test received the results in one day. Their doctors received it even 90 minutes later. The latter also received the advice of a geneticist and some treatment recommendations. Once all the data was analyzed, the doctors made their prescriptions.

In 71% of cases, doctors followed the recommendations received from the geneticist. Indeed, some of them also analyzed different factors, which the test could not take into consideration. In many cases, the results have revealed the need to prescribe different treatments from the standard one. All of this resulted in fewer heart attacks, strokes and deaths related to cardiovascular factors.

Source: eurekalert.org

A recent study evaluated the effects of fertility-saving surgery in women with borderline ovarian tumors.

The researchers analyzed data from 213 women and followed them for an average of 75 months. In 81% of cases it was a tumor in phase 1, in 4% of a tumor in phase 2 and in 15% of a tumor in phase 3. Women suffered from different types of cancer: 140 had a serous ovarian carcinoma ; 69 a borderline mucinous tumor. The average age of women was 38.7 years and 62% of them were under 40 at the time of diagnosis.

Of the 213 women followed, 112 underwent a fertility-saving surgical operation. In almost half of the cases it was conservative surgery, such as cystectomy and partial ovariectomy. Of 50 patients who had a relapse in progress, 40 underwent conservative surgery. The analyzes revealed a link between conservative surgery and increased risk of relapse.

During the study, 20 women died. In 11 cases, the cause was ovarian cancer and 6 of them had undergone a conservative intervention. However, researchers found no link between fertility preservation and increased mortality. Instead, they documented about 67 pregnancies in 42 women.

According to the authors of the study, an early diagnosis and the use of fertility-saving surgery would increase the chances of conceiving. In any case, the probabilities remain related to the patient's age, to his ovarian reserves and to his general state of health.

Source: medscape.com

A study by the Barcelona Institute for Global Health (ISGlobal) has identified a link between prenatal exposure to smog and brain abnormalities. According to the researchers, breathing much smog during pregnancy could cause alterations in the fetus. These would result in cognitive difficulties during childhood.

The study showed for the first time a link between smog and difficulty in inhibiting the response. Prenatal exposure to fine particles seems to be connected to a thinner cortex. Here are our inhibitory brakes and the ability to control impulses. The anomalies in those areas can be linked to attention deficit and predisposition to addictions.

The researchers followed a group of Dutch pregnant women and then their 783 children. They measured air pollution levels at home and in areas frequented by expectant mothers. In particular, they focused on the levels of nitrogen dioxide and fine particles. Between 6 and 10 years, they also monitored children's brain development using imaging techniques.

Combining the collected data, the researchers found a link between the levels of fine dust and the presence of anomalies. Most women have spent gestation in areas considered healthy. Nevertheless, even the average levels have proved to be harmful to the fetus. According to the researchers, this should push us to review the current levels of air pollution in our cities.

Source: eurekalert.org