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Aurora magazine

The blog about the prenatal genetic of latest generation

Where does the human sense of rhytm come from?

Researchers at the Salk Institute in La Jolla, California, have discovered how born the pace. They used the mini-synthetic brains, obtained from stem cells for research on neurodegenerative diseases. With this new information, they can better understand diseases like Parkinson's, autism and ALS, affecting the rhythmic movements.

It is still unclear how many millions of neural connections are able to absorb and process information. A human brain is too complex to study the operation as a whole. For this reason, scientists need of simplified models, which reproduce only certain features of a real brain. The mini organs are just that: are programmed embryonic stem cells to reproduce organ segments. Specifically, the researchers obtained the closed neural circuits and self-sufficient, to study how to generate a sense of rhythm in neurons.

The sense of rhythm is the innate sense which controls repetitive actions such as breathing and walking. Some people have a more developed sense of rhythm, which allows them to stand out in music or dance. Even in the most uncoordinated, however, there is a mechanism that controls breathing, the ability to walk and chew. All of these are in fact repetitive actions, which depend on the sending of rhythmic signals from neurons. It is a poorly understood mechanism that when it stops working causes diseases such as Parkinson's.

Californians neuroscientists have created artificial neural circuits from nerve cells in the spinal cord. Each of these circuits contained about 50,000 neurons and nerve cells with excitatory or inhibitory activity. Changing the proportions of each type, the researchers slowed or accelerated the pace of the signals sent from the circuits. According to scientists the brain regulates so the different types of rhythmic activity, creating complex circuits but still flexible. If you could master this same strategy, it could create new treatments against movement disorders.

Source: ansa.it

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What you should know about running while pregnant

Experts encourage mothers to do at least 20 to 30 minutes of exercise a day. Physical activity reduces the risk of gestational diabetes, preterm delivery, preeclampsia and other disorders. It also has a positive effect on brain development and reduces anxiety in women. Nevertheless, many pregnant question the practical security and encounter obstacles of a practical nature. So what you have to do to run in pregnancy safely?

In the first place, it is essential to perform periodic prenatal screening paths. It is indeed important to identify any risk of detachment of the placenta or other issues like that. In these cases, your doctor may advise against the exercise to safeguard the safety of the child. If pregnancy is safe, however, there is no contraindication. It is only important to take note of some possible difficulties.

For those who did not run before the start of pregnancy, it may have a difficult time to start. The body is changing, the center of gravity changes and you get tired first. Experts therefore recommend starting with a cardio workout more bland, so as to increase the resistance and get used to the exercise. Who ran before pregnancy, however, it may keep its wheels without fear.

The longtime runner may notice a premature fatigue and greater ease in sweat. Just that you keep hydrated, and wear breathable clothing. When it's very hot or very humid, it is also better they run on a carpet in ventilated areas. An excessive rise in body temperature in the first quarter, in fact, could create problems to the fetus.

The pregnancy makes slower. It is something that could be annoying to those who run for so long, but it is inevitable. It is important that the expectant mother will not efforts to maintain its old days. You stop to catch your breath if necessary, slow down when you do not take it anymore and go to pee every time you feel the urge. This last point requires extra moisturization, so you better bring more liquids than usual with him.
After giving birth, the new mother must not be in a hurry to resume to exercise: it could take weeks before you can start over. It is important to follow the doctor's directions, which will give the right advice based on the specific case.

Source: runnersworld.com

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New genetic testing for colon cancer

Genetic tests are revolutionizing the world of prenatal screening and more. A new genetic test allows identification of the inherited genetic mutations that increase the risk of colon cancer. The new technology is also able to find abnormalities that the earlier ones were missing. The "next generation sequencing" could then identify many more individuals predisposed to colon cancer. More weapon in the fight against cancer, which would allow those at risk to take precautions.

When you have a case of colon cancer in the family, it will appeal to a geneticist to assess the risk of familiarity. According to the history of the family, the number of cancer cases, the age of diagnosis, the specialist recommended a genetic test. In this way the test will reveal if you have genetic mutations that increase the risk of developing cancer.

The classic genetic test is the Sanger sequencing, which allows you to read the sequence of a specific gene. It is a very accurate method, but also expensive and challenging. That's why is giving way to the so-called "next generation sequencing", with which you can examine multiple genes at a time. The new method allows to reduce costs, to cut the time and give a much earlier response. He also revealed genetic abnormalities linked to colon cancer that Sanger sequencing was unable to locate.

Before proceeding with a DNA test, you should consult a specialist. He will direct the person to the path of better screening and also curb unjustified anxiety. However, the value of these new technologies is no doubt. The next-generation sequencing is changing both the fight against cancer is prenatal screening.

Source: health.clevelandclinic.org

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Congenital mirror movement disorder: causes and symptoms

The congenital mirror movement disorder is a rare genetic disease that affects 1 in 1 million. Who gets it accompanies every voluntary movement of a body part with an involuntary movement of the other party. If voluntarily raises his right hand, then, he raises involuntarily even that left. Usually the disorder affects only the upper limbs and lasts for a lifetime.

The congenital mirror movement is a hereditary disorder caused in 35% of cases by abnormalities of the DCC and RAD51 genes. Much more rarely, the subject inherits the autosomal recessive form of the disease. This means that the gene is recessive in the parents, who are so healthy carriers, and only manifests itself in the child. For that to happen, it is necessary that the subject inherits the genetic abnormality from both parents.

Although annoying, the disorder of congenital mirror movement does not involve drastic changes in a person's life. It makes it much some simple gestures complex for everyone else, like writing on keyboard or hand. Apart from that, it does not present problems in brain development level.

Sometimes the disorder is associated with agenesis of the corpus callosum syndrome instead very debilitating. Actually consists total or partial absence of the corpus cavernosum, which combines left and right hemisphere. Those who suffer from it have problems in the gestural communication and phonetics, not being able to coordinate the two halves of the body. They also have difficulty understanding facial expressions and very abstract concepts.

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