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Aurora magazine

The blog about the prenatal genetic of latest generation

Congenital myotonic dystrophy

A team of international genetics has identified the fundamental mechanism behind congenital myotonic dystrophy. Grace to the discovery, researchers have developed animal models of the disease, which will serve to study new possible treatments.

Thanks to the study, researchers realized that poor regulation of some gene expression leads to developing the disease. The ultimate goal is to identify new techniques for prenatal diagnosis, both early treatment and minimizing symptoms. In fact, the disease causes extreme muscular weakness, respiratory problems and intellectual deficits. Finding it right after childbirth would help children grow in an almost normal way.

The researchers found that the main cause of the disease is a malfunction of the RNA. Injecting some RNA molecules alter abnormalities in the expression of essential genes for muscle development. One of these anomalies causes the breakdown of a particular key protein during prenatal development, resulting in subsequent muscle problems.

By including the operation of the disease, it has been possible to develop more precise animal models. In this way, researchers began a new phase of research, which should lead to more accurate diagnosis and treatment tools.

Source: ufl.edu

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It is better to store ovarian tissue than ovules

There is a growing tendency to preserve their eggs in view of a future pregnancy. However, some doctors estimate that only 24% of the procedures with these ovules are successful. A new study offers an alternative: crio-preserve ovarian tissue and transplant it later.

Some girls with tumor retain their own eggs so they can use them later to have children. Chemotherapy and radiotherapy, in fact, affect the reproductive functions. Since 1999, Dr. Kutluk Oktay and Dr. Fernanda Pacheco offer them an alternative, faster and more effective procedure. The treatment involves the withdrawal and crio-conservation of ovarian tissue instead of ovules.

The two doctors analyzed the data from the alternative procedure collected between 1999 and 2016. According to the study, 4 out of 10 women were able to have children due to cryopreservation. Of the 309 procedures, in fact, well 84 have led to the birth of a healthy and healthy baby. In addition, 2 out of 3 women conceived naturally. Although the results are positive, further studies are needed. The numbers involved are still too low.

The study of fertility preservation is a mined field. There are dozens of small studies in this regard, but there are no generalizable rigor. The questionnaire study highlights an interesting option for many girls with cancer. Nonetheless, it still requires more rigorous in-depth studies and studies.

Source: medicaldaily.com

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Vaccines protect fetuses from Zika infection

A new study on animal models proves that vaccinating females before pregnancy protects the fetus from Zika. The trials examined two types of vaccines and both proved to be effective. The next step will be to verify its effectiveness on the human being.

Last year the team of Michael S. Diamond and Pei-Yong Shi had developed an animal model of Zika. Starting from this, the authors evaluated the efficacy of two vaccines against the virus. The first vaccine is based on the genetic patterns of two viral proteins and has already been tested on non-pregnant women. The second is a weakened form of the virus and has been tested only on animals.

The team analyzed groups of about 20 guinea pigs vaccinated with one or two vaccines or with a placebo. Some animals also received a second dose of the same vaccine one month later. Three weeks after the first vaccine, researchers measured antibody levels in mice. Both vaccines neutralized the virus.
At a later time, the team made the rags snatched and infected them at the 6th week of pregnancy. A week after infection, researchers measured the levels of the virus in mothers and fetuses. Both vaccines have proven to be 100% effective in more than half of the cases. In other specimens, however, virus levels were just above the measurable limit. It is unclear whether they are the traces of a new infection or the remnants of the past.

For the time being, it is not known whether it is perfectly safe to vaccinate in pregnancy, but the risks would be lower than those of the virus itself. It will also be necessary to check whether the vaccines also work on the human being.

Source: medicine.wustl.edu

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How drinking while pregnant affects future generations

For years, scientists have been struggling to report the effects of alcohol in pregnancy. However, there is another reason not to drink as you expect a child. The effects of alcohol affect not only the fetus but also the brain development of future generations.

Kelly Huffman of the University of California had shown that alcohol in pregnancy affects the anatomy of the neocortex, the area responsible for the behavior. Changes can cause abnormal motor behavior and increase the risk of anxiety. The new study has shown that the effects of prenatal exposure to ethanol persist in later generations.

The research team has produced a guinea pig with fetal alcohol syndrome (FASD) and analyzed development. The cave exposed in utero to alcohol showed atypical gene expression and an abnormal cerebral development. Similar consequences were, however, also present in subsequent generations, not exposed to alcohol. Small guinea pigs affected by FASD were smaller, suffering from anxiety and depressive behaviors.

Alcohol consumption in pregnancy causes changes in the nervous system affecting the behavior of the subjects involved. Changes, however, seem to be inherited and therefore require more in-depth studies.

Source: ucr.edu

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