Aurora magazine

The BRCA1 and BRCA2 genes are among the most important genes linked to the risk of breast and ovarian cancer. Averli is not a conviction, indeed: knowing that you are at risk allows you to take all the necessary countermeasures. This can save your life, especially in the case of ovarian cancer. Yet only 18% of BRCA gene carriers know they are. A study by the University of Pennsylvania discovered it.

A team of researchers studied the DNA of 50,000 people, testing them for BRCA genes. Of these, 267 were carriers of the genes, yet only 48 were aware of them. The study highlights how little the tests are widespread to identify the genes that predispose to breast and ovarian tumors. To date, only those who have had family cases carry out genetic tests. Yet it is absolutely not enough.

The presence of cancer in the family is indeed one of the main criteria for measuring the risk of getting sick. Sometimes, however, knowledge of family history is not thorough enough to push for genetic testing. It therefore happens that some BRCA gene carriers do not suspect that they are at risk. The study in Pennsylvania highlighted this fact.

Of the 267 carriers, some died before the end of the study. Half of them left because of a tumor related to BRCA genes. In contrast, very few among those who lived long enough to discover that they were carriers developed a tumor. This is yet another proof of how important genetic testing is for prevention.

Source: medicalxpress.com

Only 10-15% of the parts require the use of a caesarean section. Yet, a study by Aga Khan University shows how the caesarean sections in the world have doubled since 2000. A worrying trend, given that the procedure involves a number of risks for both the mother and the child. If there are no alternatives, these risks are acceptable. But when mother and child have no problems, there is no reason to subject them to what remains a surgical procedure.

Dr. Marleen Temmerman, the lead author of the study, is worried. Between 2000 and 2015, the number of caesarean sections grew by 4%, or 30 million new births compared to 16 million in 2000. The increase in caesarean sections is concentrated in the richest countries, usually for non-medical purposes . At the top of the ranking is South-Asia, where the use of the procedure has increased by 6%. However, Western countries are not less.

Caesarean sections are widespread especially in the United States, Canada, Europe and Latin America. In North America alone, the rate of caesarean sections rose from 24% in 2000 to 32% in 2015. Even nations such as Mexico and Cuba touched a rate of 40% of caesarean sections.

Caesarean delivery should only be used in case of medical emergencies such as unexplained bleeding, high blood pressure, a child in an abnormal position. Instead, in the last few years cesarean is used to reduce the uncertain timing of childbirth and to avoid pains. This also explains why the increase is concentrated above all in first world countries, where the procedure is available and accessible to everyone.

If 6 out of 10 nations practice too many Caesarean sections, 1 in 4 will practice too few. The scarce accessibility of the procedure puts many lives of mothers and children at risk. For this reason, caesareans should be made more available in some countries and risk awareness in others.

Source: medicalxpress.com

A study by the Universities of Exeter and Essex discovered a link between indicators of genetic activity and Alzheimer's. The mechanisms that control the behavior of genes in the brain could be among the causes of the disease. If confirmed, the discovery could help to better understand the development of Alzheimer's and find new therapeutic approaches.

The researchers analyzed changes in genetic activity not caused by changes in the genetic code. Instead, they focused on so-called epigenetic factors that can be altered by the environment. In particular, they studied a type of epigenetic modification called histone acetylation. This alters the control mechanisms of genetic activity and seems to be linked to Alzheimer's.

Brain tissues of patients with Alzheimer's showed an abnormal presence of histone acetylation. Researchers have identified differences especially in the regions that control the expression of amyloid and tau. The two proteins were already known for their role in the development of the disease. However, the acetylation of histones could also influence other proteins and be among the causes of further diseases.

One of the study's authors, Professor Jonathan Mill, said he was optimistic. Further insights will be needed, but the data collected open the door to new possible treatments against Alzheimer's. For example, it may be possible to develop a drug that acts on histone acetylation. Above all, they suggest an alternative approach to research on these diseases and underline the importance of epigenetics as well as genetics.

Source: exeter.ac.uk

Tartu scientists have discovered how to improve the quality of assisted reproduction treatments. The results of the study, which appeared in the journal Human Reproduction, promise to optimize the procedures. Doctors will be able to use them in precision medicine to take account of the variables in the menstrual cycle of female patients. The personalized approach will be of help especially for the many couples who have tried without success with in vitro fertilization.

In 2017, over 2800 IVF procedures were performed in Estonia. Only 15% of these were successful, leading to the birth of 430 children in total. Why do the numbers remain so low? There may be problems along all stages of treatment, but the most critical moment is the implantation of the embryo. Transferring the embryo at the wrong time, when the conditions are not optimal, decrees the failure of the whole procedure.

In natural conception, the embryo can be formed at an unfavorable time and implanted when the endometrium is ready. It is one of the reasons why it is sometimes possible to get pregnant during bleeding. In vitro fertilization, on the other hand, it is necessary to identify the best day to transfer the embryo. Only in this way is it possible to increase the probability of success of the procedure. Doctors have devised several methods to measure endometrial receptivity as accurately as possible.

The study in question starts from a well-known fact: the internal lining of the uterus is made up of different types of cells. Previous studies had never considered the effect of the proportion between these cell types. In this case, however, the researchers looked for the link between this data and the profiles of the endometrial genetic expression. This allowed them to make genetic analysis more precise, improving tests based on gene expression in endometrial cells.

Source: etag.ee