Aurora magazine

Hormonal contraceptives are the most effective contraceptive method ever. Nevertheless, some women still remain pregnant. Some relegate these cases to mistakes made by women themselves. A study by the University of Colorado reveals, however, that this is not always the case: sometimes it is the fault of the genes.

The research team analyzed the DNA of 350 healthy women around the age of 22. All of them had a hormonal contraceptive implant for 12-36 months. 5% of them had a gene called CYP3A7 * 1C, which usually turns off shortly before birth. In some of them the gene was still active and continued to produce the CYP3A7 enzyme even in adulthood. The CYP3A7 enzyme interferes with the action of hormonal contraceptives, increasing the risk of pregnancy.

The problem occurs above all in those who use contraceptives with low hormonal content, such as modern birth control pills. Difficult as it is, it is therefore possible for these women to become pregnant while taking hormonal contraceptives correctly. The discovery also sheds light on how genetic variations can affect the effectiveness of some drugs. Further studies will be needed in this regard, but it is a first step in creating contraceptive tools almost tailored to the individual.

This will make it easier to avoid unwanted pregnancies related to the failure of the contraceptive pill.

Source: cuanschutz.edu

Researchers at American University have developed a genetic test to detect antibiotic resistance. According to the first experiments, the test is as accurate as the in vitro cultures and much faster. It could therefore facilitate the treatment of respiratory infections resistant to the most common antibiotics.

The test is used to determine if the patient is infected with bacteria with the mef (A) gene. The variant makes the bacteria resistant to two of the most common antibiotics: erythromycin and azithromycin. The latter, in particular, is the most prescribed and used in the United States.

The test identifies the gene in about 10 minutes, nothing to do with the hours of a classic in vitro culture. It would therefore be easier to use in daily diagnostic procedures, even by family doctors. A few minutes would be enough to understand if normal treatments do not work because of this resistance.

This new study also highlights an increasingly serious problem in the United States but also in Italy. Bacteria are developing increasing resistance to antibiotics, which makes them more difficult to fight and more dangerous. It is estimated that "super bacteria" infect about 2 million people a year in the United States alone. Of these, about 23,000 die due to untreated infection.

Beyond genetic testing, it is important to develop greater awareness of the use of antibiotics. They should always be used only on medical prescription and in the manner indicated.

Source: american.edu

Since 2013, several international teams have been studying how to use CRISPR against Duchenne dystrophy. For now, the therapy has been shown to work on guinea pigs with the disease. When is experimentation on humans? The researchers talked about it during the XVII International Conference on Duchenne and Becker muscular dystrophy.

The gene responsible for dystrophy is very cumbersome, which makes gene therapy more complicated. Transporting a healthy copy to sick cells using the usual viruses is impossible. As a result, scientists are developing different alternatives to classical gene therapy. However, all this work requires a large number of experiments, above all to understand what the impact on human beings could be.

There are currently three alternative gene therapies being developed.

1. Modify the expression of the gene responsible for the disease.
2. Act only on deletion mutations, those in which a stroke is missing.
3. In case of duplication mutations, remove too many portions.

For the time being, only 13 human patients have tested gene therapies in progress. The results seem positive for the moment, but the analyzes and tests are still in progress. Furthermore, only one treatment has been approved so far and could only help a slice of the sick. It works only on patients with a particular genetic mutation, not on the others.

The Italian Giulio Cossu offered an alternative to CRISPR during the conference. With his Manchester University team he is testing stem cell transplantation. The treatment is still under study.

Source: lescienze.it

Between 1975 and 2016, the rate of obese people tripled. It is estimated that there are around 1.9 billion obese adults in the world. In 2013-2014, approximately 66.9% of US women were overweight or obese. How is this associated with infertility and what effect does it have on the outcome of assisted fertilization?

A recent study analyzed the outcomes of in vitro fertilization (IVF) in women with different body mass. The researchers used data from 51,198 women who were undergoing the first fertilization cycle. To facilitate the analysis, they divided them into the following groups:

• underweight;
• normal weight;
• overweight;
• obese class I;
• obese class II and III.

To get data as reliable as possible, they took into account factors such as age, ovarian reserve, the number of implanted embryos. It was found that overweight and obese women had a higher rate of cancellation of the fertilization cycle. In addition, obese women have produced less oocytes than just overweight or normal weight.

The number of embryos that can be used for IVF was also lower. According to the data analyzed, there was a lower rate of parts among obese women. Even underweight women have had a number of problems, however: the success rate of their fertilization cycles was equal to that of overweight women, therefore lower than normal-weight women.

Source: medscape.com