Aurora magazine

A study published in Cardiovascular Research shows a possible link between maternal polycystic ovary and cardiac dysfunction in children. The researchers analyzed the young born from guinea pigs suffering from the syndrome, noting a greater risk of heart problems.

Polycystic ovary affects about 1 in 10 women and is the most common reproductive disorder. The problem has a strong genetic component, but some studies suggest other possible causes. Among these could be a hostile environment in the maternal uterus, characterized by too high levels of androgens. However, the authors of the study focused on the consequences of the syndrome on the offspring.

Women with polycystic ovaries tend to produce high levels of dihydrotestosterone in the late stages of gestation. According to the researchers, this could cause future dysfunctions in the offspring, especially in females. To test this, the researchers followed two groups of pregnant guinea pigs, each with a different problem. High levels of dihydrotestosterone in the last quarter. Obesity before and during gestation.

After giving birth, the researchers separated the babies from their mother and gave them a controlled diet. When they reached adulthood, they verified the presence of cardiac anomalies and malformations in the tissues of the heart. Furthermore, they verified the effects of high levels of dihydrotestosterone during puberty. Experiments show that high levels of dihydrotestosterone in the last quarter and during puberty can cause heart disease in adulthood. Paradoxically, maternal obesity does not seem to have equally serious consequences on the cardiac profile of small females.

Source: medicalxpress.com

A study by Dr. Hanna Valli-Pulaski examines the case of two young transgender women who have returned fertile. The two stopped hormone therapy in the hope of resuming sperm production. One attempt gave positive results, the other did not.

A transgender woman must follow a specific hormonal therapy that helps her to appear more feminine. However, the therapy stops the production of the spermatozoa, making the person actually sterile. On the other hand, stopping the use of drugs is a big trauma for a transgender person and doesn't always give results. The team examined the medical records of two transgender women who discontinued hormone therapy to have usable sperm samples.

He compared them with data from another transgender woman who had kept the sperm before the transition. The first patient was taking a drug called Lupron. Taken during adolescence for at least 6 months, the drug blocks puberty. The patient stopped taking it and after 5 months she started producing sperm. The samples were of good quality and usable for IVF. Unfortunately for the second patient it was more difficult.

Stopping the use of drugs causes a series of physical changes: the beard grows, the voice deepens. Going back to a more feminine aspect takes time and can be a big stress for a person. This is what happened to the second patient: the woman had been on estradiol and spironolactone for more than two years. After 4 months of interruption and still no results, the patient gave up and resumed her transition.

Source: deccanchronicle.com

In the last few decades, scientists have successfully mapped the human genome. Unfortunately there was nothing that corresponded to a high resolution model. This made it more difficult to study the interactions between chromosomes, which are intricate and essential to understanding so many diseases.

Researchers at the University of Missouri have perhaps solved this problem. The tool developed by the team creates a high resolution 3D model of the human genome. In this way it is easier to identify the factors that determine genetic diseases, tumors and disorders of various kinds. The researchers started with pre-existing one-dimensional sequencing. To add the missing dimensions, they have created an algorithm that displays interactions in 3D and high definition. Neighboring or linked genes are easier to identify, since their link is visually expressed.

Two genes apparently unrelated but close, for example, can explain the apparent anomalies of diseases such as diabetes or Alzheimer. The interaction between genes underlies the functioning of our body. This is why it is so important to be able to visualize it in the best possible way. Furthermore, this research underlines the power of transversal precision medicine. All this has in fact been made possible by the collaboration between several schools and among several faculties, the only way to develop an IT tool of this kind, potentially so important for medicine.

Source: medicalxpress.com

A clinical trial is about to start that will test a new technique to cure blindness. The possible treatment is based on CRISPR and aims to correct the genes that cause Leber's congenital amaurosis. For the time being it will be tested on 18 adult and child volunteers.

The disease is linked to anomalies present in about 15-20 different genes, which cause a progressive degeneration of photoreceptors in the retina. At the moment there is no cure, apart from an effective gene therapy only on the form caused by the RPE65 gene.

This makes the trial even more important. Existing gene therapy uses a virus to replace the abnormal RPE65 gene with a correct version. What we are going to test, however, acts on the Cep290 gene that causes the Lca10 form of Leber's congenital amaurosis. In this specific case, the researchers will use the new Crispr-Cas9 techniques.

Researchers will inject light-sensitive cells under the retina. CRISPR should replace the abnormal gene, so as to correct the DNA of the retina permanently. If it does work, the disease could stop or even regress. In this way children and adults would get their sight or what remains of it. It is not the first time that Crispr-Cas9 is used directly on the human body. A large number of therapies are being developed that exploit the technique of genetic editing, especially in oncology. In these cases, doctors modify the cells of the immune system so that they affect cancer cells.

Source: wired.it