Aurora magazine

Cystic fibrosis is a serious genetic disease that affects about 1 baby in Italy about 2,500. A trigger disease is a defect in the CFTR gene, which in our country would be present in 1 in 25. For each pregnancy, a pair of carriers has a 25% chance of having an affected paper.

There are various levels of disease severity, which may vary from person to person, depending on age of diagnosis and the type of CFTR gene mutation. Cystic fibrosis alters the secretions of the organs, making them more dense and less fluid. This damages the organs and causes gradually the loss of functionality. The most affected organs are the lungs and bronchi: the mucus stagnates in them, which causes more and more serious infections and inflammations. With time, the accumulation of disorders causes the body insufficiency.

Cystic fibrosis also affects other organs, in addition to those of the respiratory system. Seriously harms the pancreas, responsible for the reversal of the enzymes. The malfunctioning of the pancreas leads to digestive problems, malabsorption of nutrients and consequent growth problems. Often pancreatic problems evolve into a form of diabetes, with all the additional problems that arise. In addition, the bad functioning of CFTR can damage the intestine, liver and the vas deferens in men.

One of the major symptoms leading to the diagnosis of cystic fibrosis is salty sweat, caused by abnormally high levels of chlorine. Sick children also suffer from persistent cough, shortness of breath, frequent lung infections and failure to gain weight. In these cases it is provided with suitable DNA testing and analysis, for the presence of the disease.

For now lacking real cure against cystic fibrosis. There are treatments for the symptoms and, in case of early diagnosis, to slow the progress of the disease. Compared to 50 years ago, patients enjoy a higher quality of life and have higher growth prospects. Once a child with cystic fibrosis was struggling to get to school age, while the average today is around 40 years. The road to finding a cure is still long, but scientific research is making big steps forward.

Thailand is the first Asian country to have eliminated HIV transmission from mother to child. Thanks to strong political and public investment commitment in the field of public health, has achieved the objectives proposed by the World Health. Already in 2015 the country had exceeded the WHO goal of bringing down HIV transmission rates below 2%. In fact, Thailand has a rate of 1.9%, compared with 20-40% of the 90.

To eliminate mother-to-child transmission, the WHO has proposed a strategy in 4 points. It starts with the prevention of infection in women of childbearing age. In the case of women already with HIV, the organization recommends instead: prevention of unwanted pregnancies; treatments to prevent transmission of the virus from infected mother to child; adequate treatment for women and children with HIV. Thailand has implemented several initiatives focused on these four cornerstones, which have resulted in the achievement of the objective.

In recent decades, the Thai political authorities have intensified their economic efforts for the prevention of HIV infection. In 1988, public spending program against HIV / AIDS was only 640 thousand euro, while in 1997 it was already 76milioni euro. The investments have allowed us to implement initiatives aimed at promoting the use of condoms among young people. The most famous is the "100% Condom Programme", intended for women of reproductive age and decisive for the prevention of HIV infections. The authorities have also launched a campaign on risk behavior information. For pregnant women and for how many have just given birth, he has introduced a series of tests.

he success of Thailand concerns in large part on the large number of antenatal care performance. At the first clinic visit, all pregnant women received an HIV test with results within the day. Tests that can be repeated throughout pregnancy, although the first was negative. Infected women have instead received antiretroviral therapy, designed to prevent transmission of the virus to the baby. During pregnancy, the mother can monitor the health of the future baby by undergoing prenatal screening noninvasive.

The case of Thailand shows that combine HIV and maternity is now possible. Antiretroviral drugs allow fact of running the pregnancy without the virus steps from mother to child. Assisted reproductive techniques, however, allow you to search conception without putting each other at risk of contagion partners.

Source: wired.it

A Finnish study of the University of Helsinki reveals that it is best to avoid licorice during pregnancy. According to researchers, frequent consumption of licorice would in fact be harmful to the fetus. However, are the maximum limits still unclear.

Tests in animal models had already shown the negative effects of liquorice in pregnancy. The substance indeed inhibits the enzyme that inactivates cortisol, or the stress hormone responsible. Under normal conditions the fetus absorbs minimum quantities of the mother cortisol, which serves to correct fetal development. Licorice, however reduces the barrier effect of the placenta and the fetus absorbs quantities too high hormone. Also licorice raises levels of blood pressure and speeds time of pregnancy. All this makes the hostile mother's body to the fetus, making it harder for the proper development of the brain and other organs.

The researchers examined 378 children of 13 years. They were divided into two groups: those whose mothers had made extensive consumption of licorice; those whose mothers had not consumed licorice. The mothers of the first group had consumed minimum 250 grams a week licorice, while mothers in the second group they had consumed up to 120 grams per week.

The females of the first group were higher and with a body mass index higher than peers. Many of them are also revenue before puberty. Both males and females have shown minor logical and cognitive skills, to have a low IQ, less memory and be more at risk of ADHD. More rose the amount of licorice consumed by pregnant mothers, they were more serious problems of the children. This suggests that it is good to reduce the consumption of the substance as possible in order to avoid risks to the fetus.

During pregnancy, therefore, it is important that the mother cares power, in addition to practicing moderate physical activity. in addition it is important to have regular medical checks: prenatal screening tests allow mothers to monitor the health of your baby.

Source: repubblica.it

An international team of 32 experts of the Cystic Fibrosis Foundation has drawn up new guidelines for the diagnosis of cystic fibrosis. The experts came from 9 countries and have dealt with the review of the literature. The operation led to the writing of the 28 recommendations, 27 of which were approved by a vote of more than 80% of the commission. The study is available for free in The Journal of Pediatrics, and aims to improve the detection and treatment of the disease.

Among the most important changes is the adoption of the latest classification of CFTR mutations, the gene associated with the disease. The scientists collected data from patients from all over the world, so as to quantify and describe the possible abnormalities of the gene. In particular, they are resting on those from CFTR2 project, namely "Clinical and Functional Translation of CFTR." The project began in 2008 and has so far described 300 mutations in the CFTR gene on the more than 2,000 known.

Grading of CFTR mutations led to a their categorization. Researchers have distinct mutations explicable to the disease, the cause of other diseases, those nationally unrelated to cystic fibrosis and those unknown. In cases where DNA tests to identify a gene mutation, the researchers recommend that lean to the definitions of CFTR2 to see if this is transmissible and bearer of the disease.

In the case of carriers of the mutated gene parents, a neonatal screening test for the presence of the genetic defect in children is available. Unfortunately, the test is still little used sometimes fails to identify the disease. In the case of parental genetic predisposition, doctors then recommend to also make a post-neonatal period tests. The test detects a presence in the sweat of high levels of chlorine, indicating the malfunctioning CFTR.
As part of the sweat test, the researchers lowered the threshold of suspicion of cystic fibrosis diagnosis. Whereas before the concentration of chlorine was suspected of 40 mmol / l and 30 mmol / l depending on the age, now it is a0mmol / l to 20 mmol / l. With 60 mmol / l the diagnosis of cystic fibrosis is certain.

During pregnancy it is recommended that the mother monitors the health of your baby: the prenatal screening tests are useful because they can detect the probability of the presence of chromosomal abnormalities in the fetus.
Source: pharmastar.it