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Aurora magazine

The blog about the prenatal genetic of latest generation

A new app can help predict risk of premature birth

The Magee-Womens Hospital physicians and Carnegie Mellon University scientists have developed an app against the premature parts. The application is designed for the most difficult population bands to reach, thus providing them with affordable obstetric care.

Premature births are the main cause of prenatal death and permanent disability. In the US, 1 child in 10 is born before 37 weeks of gestation. Much prematurely affects African Americans and poor families. In fact, the bands of the population that follow less prenatal screening paths. In addition, many poor women do not have the opportunity to take care of themselves as they should.

Despite access to healthcare is a problem in the United States, about 86% of American adults own a smartphone. 20% of them have downloaded at least one pregnancy-related application in 2015. A few of them, however, have a scientific basis based on patient observation and supported by researchers.
Carnegie Mellon University scientists have combined their technical skills with Magee's medical skills. They interviewed and analyzed tests of 60 hospital patients, who specialize in high-risk pregnancies. They then provided women with a smartphone with the installed app. Participants have included you for 3 months gained weight, consumed alcohol, depression episodes, and other risk factors.

Women used the app on average every day and a half so that they could complete their daily tasks. Each time the application calculated the risk of premature delivery and gave advice on how to intervene. In cases of high-risk events such as domestic violence or attempted suicide, the app has sent a notice to the staff. In this way the doctors contacted the women and provided them with the necessary help.

Source: medicalxpress.com

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Duchenne muscular dystrophy: signs and symptoms

Duchenne muscular dystrophy is a neuromuscular disease caused by the absence of dystrophin. Diprophin is a protein present on the surface of muscle cells, where it is associated with a variety of other proteins. His main task is to unite the cell matrix and the cytoskeleton, the cell skeleton. Additionally, the protein monitors some genes linked to the pathogenesis of Duchenne's muscular dystrophy, such as oxidative stress and fibrosis.

The first symptoms of Duchenne's muscular dystrophy appear between 2 and 6 years. Children who suffer begin late to walk and usually do it on the tips. They are struggling to get up, jump and make stairs. The particular gait causes an enlarged calf and scoliosis.

As the child grows, the absence of dystrophin causes a progressive weakening of the muscle fibers. The muscles are replaced by fibrous scars incapable of contracting. Within 12 years, the death of muscle tissue involves arms and legs. Fibrosis also involves heart and respiratory muscles, resulting in cardiac and respiratory complications.

The main cause of Duchenne's muscular dystrophy is a genetic abnormality in chromosome X. For this reason, it is almost always manifested in males, which have only one copy. Females, on the other hand, are healthy carriers. In a third of cases, the anomaly is not hereditary, but caused by a new mutation.
If there are cases of family disease, it is possible to carry out prenatal screening tests to check the health of the fetus. If this is not the case, the diagnosis is performed by clinical observation and examinations that test muscle conditions. Ultimately, molecular analysis of the dystrophin gene is crucial for a muscle tissue sample.

At the moment there is no cure. However, there are treatments that improve the quality of life of patients

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How to increase IVF success rates?

A research at Ulm University has revealed that diamond slides help sperm to live longer. Discovery could help many couples who resort to in vitro fertilization or IVF. Diamond slides and the use of red light make spermatozoa more active and increase the chances of success.

One of the most critical stages of IVF occurs in polystyrene slides of laboratories. Doctors combine sperm and oocytes. If fertilization succeeds, implant the zygote obtained in the uterus. The problem is that spermatozoa exudes harmful cell molecules, known as free radicals. In the human body free radicals survive very little, but polystyrene creates a film that allows them to survive. Consequently, the sperm suffers the damage of their own free radicals.

Many spermatozoa exposed to polystyrene lose mobility and are unable to fertilize the oocyte. If the sample contains many moving sperm, the damage is contained. If that is not the case, the chances that IVF will drop significantly.

The diamond creates a layer that does not hold free radicals, protecting spermatozoa. The researchers used a thin sheet to cover the inside of the slides. They put human sperm inside and measured mobility, comparing it to that of sperm placed on normal slides. After an hour, diamond slides contained 300% more active spermatozoa than polystyrene ones.

The researchers combined diamond slides with the use of a red light. Previous studies have shown that a particular light increases the energy produced by mitochondria. With the combination, the likelihood of success has further increased.
Additional tests will be required. For the time being, one of the biggest obstacles is the price of diamond slides. It will also be necessary to explore any side effects.

Source: sciencemag.org

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Consumption of alcohol during pregnancy: an european study

An international study has analyzed the consumption of alcohol in pregnancy by over 7,000 women from 11 European countries. The most virtuous country is Norway, while the UK has the highest rate of women who drink while knowing they are pregnant. In each country, researchers used the same methods and criteria. In this way the data were comparable and a wider picture of the situation in Europe was obtained.

On average, 16% of women in the 11 countries drank when pregnancy was already over. The women who reported having drunk were largely mature, of high culture and laborers. Many of them had the smell of smoke before they became pregnant. Analyzing individual country statistics, the percentage rises to 28.5% in the UK and falls to 4.1% in Norway.

Why a marked difference between the UK and Norway? On average, British drink much more than Norwegians. Nonetheless, countries with similar alcohol consumption still have few pregnant women and intakes. Among them are for example Poland and France. There is therefore no correlation between percentages of drinkers in general and women who are pregnant. According to the authors of the study, information on the consequences of alcohol in pregnancy could be crucial.

Among women who claimed to have been pregnant, 39% consumed at least one unit of alcohol per month. In Italy, 7.8% of them even drank 1-2 units per week. It seems that Italian women who continue to drink during pregnancy drink much more than those in other countries. Again, information and national culture could play a key role.

The analysis included in the percentages even those who drank only 1-2 units of alcohol throughout pregnancy. However, it should be borne in mind that there is no minimum quantity under which pregnant alcohol is safe. It is therefore best to avoid alcohol in full. To protect the baby's health, it is good for mom to undergo prenatal screening tests such as fetal DNA test.

Source: fhi.no/en

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