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Aurora magazine

The blog about the prenatal genetic of latest generation

How visual perception influences the brain

An international study led by Thomas Pizzorusso, a professor at the University of Florence, showed that the eyes affect brain development. The use of vision increases the number of microRNA molecules, which in turn stimulate the development of brain circuits.

MicroRNA molecules regulate how information in genes is transformed into functional macromolecules. Observing the development of the visual bark, the researchers found that it contains a large number of these molecules. In particular, the molecules increase greatly during the functional maturation period in early childhood. According to researchers, microRNA molecules and vision could be linked by virtue of a virulent circle.

The team focused on a particular microRNA molecule, the miR-132. The more miR-132 there are, the greater the functional maturation of vision-related neurons, the excitatory neurons. Without the molecule, development stops and 3D vision is missing. At the same time, visual stimulation induces the production of miR-132. The molecule itself allows proper vision development, which again promotes the rise of miR-132. So brain development stimulates visual development and visual development stimulates brain development.

The discovery opens new perspectives for the study of schizophrenia and autism. In these diseases, gene expression responds abnormally to external experiences. This leads to problems during development. The study identifies some genes controlled by the miR-132 molecule. The cause of some psychiatric illnesses might reside in the way the molecule translates the stimuli.

The molecular factors that mediate stimulation and brain development are relevant even in adulthood. The miR-132 molecule is not present in the brain of patients afflicted with Alzheimer's. This suggests that the absence of a mediator between external and internal world can contribute to brain degeneration.

Source: corriere.it

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Congenital diaphragmatic hernia: symptoms and causes

Congenital diaphragmatic hernia is an anomaly that affects about 1 child every 2,500 to 3,500 live births. It is not a hereditary illness except in very rare cases and in 3-5% of cases it is associated with chromosomal alterations. Prenatal diagnosis takes place around the 3rd month of gestation. The abnormality can be resolved surgically, with a survival rate of 70-75%.

In the first weeks of abdominal and chest development are related. Under normal conditions, communication closes by the end of the first quarter. Instead, the person who suffers it has the diaphragm open on the left, on the right or on both sides. This causes the passage of viscera from the abdomen to the chest, removing the lungs and hindering its development. The cause of this deficit in development is still unknown.

The anomaly can be detected by prenatal routine screening tests. Second-quarter ultrasound is usually enough to highlight the problem. In these cases, the heart is in fact displaced by the viscera, which makes it possible to identify the problem even without seeing the actual hole. Once the diagnosis has been made, the doctor checks every 3-4 weeks to check that the fetus is well. As you prepare a strategy to deal with the anomaly.

In some cases prenatal diagnosis does not occur and congenital diaphragmatic hernia manifests itself after childbirth. The child suffers from respiratory crises and the radiograph shows the presence of the viscera in the chest. However, there are subjects with such blurred symptoms to cause late diagnosis, perhaps random.
If there is a prenatal diagnosis, the best thing is that it is born and scheduled. This ensures the presence of a team of specialists, ready to intervene in case of complications. Doctors keep the baby under control and check the amount of oxygen the child needs. Once this achieves some stability, usually after 48 hours of life, they intervene surgically.

The intervention is used to reposition the organs and close the diaphragm. In most cases, once the baby is raised, the baby has a good respiratory function. The lungs develop almost normally and the baby can live like everyone else. There is, however, the risk that hearing and skeletal problems develop.

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A new amniocentesis reveals 80% of genetic diseases

There is a new technology for amniocentesis, one of the most popular prenatal screening tests. The "super amniocentesis" uses the DNA sequencing technique to detect about 80% of genetic diseases. Today, the percentage is just 7%. The discovery is the researchers of SIDIP (Italian College of Fetal Maternal Medicine).

Traditional Amniocentesis and Villocentes only analyze the number of 46 chromosomes. This makes them very effective in detecting pathologies caused by anomalies in the number of chromosomes, such as Down syndrome. The goal of the researchers was to find an effective and efficient way to study the deep structure of the chromosomeSidip researchers have developed a technique that exploits total DNA sequencing, the Next Generation

Sidip researchers have developed a technique that exploits total DNA sequencing, the Next Generation sequencing (Ngs). Many laboratories already use Ngs for prenatal diagnosis, but the operation is slow and expensive. The new technique allows instead to look for the single genetic pathology so as to get a faster response. For this reason they have nicknamed "rapid sequencing" or Ngsd.

The new amniocentesis allows to exclude the most common chromosomal abnormalities in pregnancy. It can also check the presence of genetic diseases, congenital heart disease, brain illnesses, dermatitis, and more. Unlike the most common tests, it tests hundreds of pathologies at the same time, allowing a job that would otherwise require months.

For the time being, Ngsd is only available in private facilities and has a low cost for many families. It also suffers from the typical problem of normal amniocentesis, namely invasiveness. For routine prenatal screening, the best option remains fifth a non-invasive prenatal test.

Source: repubblica.it

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Follistatin is a key player in embryo implantation

Baylor College of Medicine researchers have shown that folthstatin plays a key role in embryo implantation. They have thus identified a new element of female fertility. The study helped to better understand how the uterus works and why sometimes it fails. It will also help raise the success rate of assisted reproduction technologies.

Embryo implantation in the uterus is a process that requires high coordination. It involves a large number of proteins needed to communicate embryo and mother to each other. When communication fails, the embryo does not stick to the uterus and its development stops.

The mechanisms behind embryo implantation aroused the interest of many researchers, especially those involved in assisted fecundation. Failure to plant is in fact the cause of most failures in in vitro fertilization. Understand why this is the only way to increase successes.

It was already known that phollistatin protein increases the receptivity of the uterus to the embryo. It is in fact the decidualization of endometrium, the set of processes that make the uterus pregnant. When decidualization occurs, follo-statin levels rise. However, the researchers have noticed that the levels rise even earlier, during the implant. They then created animal models without folliculine and measured fertility.

Follistatin-free females have given less and less often light. Observations showed that embryos did not stick to the uterus of these cavities, slipping away. The shortage may therefore be behind the failure of many plants in the human being. According to researchers, this could be the key to improving the chances of successful assisted fertilization procedures.

Source: bcm.edu

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