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Aurora magazine

The blog about the prenatal genetic of latest generation

More healthy prematurity with erythropoietin and gene regulation

Erythropoietin or EPO is an anti-anemia drug also used on premature babies. It helps to protect and repair their little brains, even if the how remains a mystery. A mystery that the team of Dr. An Massaro has partly unveiled. It seems that the drug acts on some genes responsible for nervous development and regulating inflammation.

During the third trimester, the fetal brain grows very importantly. So when a baby is born weeks before the term, his brain is not yet fully developed. The EPO protects and repairs the neurons of these small brains, supporting the last stages of brain development.

The team analyzed the DNA of 18 newborns born between 24th and 27th week. The material was collected 24 hours after delivery and 14 days later. The 11 children treated with erythropoietin had different DNA methylation profiles and, consequently, a different gene expression. The difference was evident particularly in genes linked to the regulation of inflammation, hypoxia and oxidative stress.

DNA analysis has unveiled 240 methylated regions and 50 genes possibly influenced by the drug. A second analysis narrowed the field to 5 genes, essential for normal brain development. These include a transcription factor that regulates neurogenesis and an essential gene to generate new brain cells.

The discovery gives a possible explanation for the positive effects of erythropoietin. These could be mediated by the epigenetic regulation of genes involved in the development of the nervous system. Furthermore, genes may play a primary role in the way the body responds to inflammation and hypoxia.

Source: childrensnational.org

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Neural tube defects: what they are and how they manifest themselves

Under the term "neural tube defects" comes a wide range of congenital malformations. All have early appearance, within 28 days of conception. The cause lies in defects of various kinds in the closure of the central nervous system and the structures connected to it.

In Italy, neural tube defects affect about 1 child every 1500 newborns. Neural tube defects can be "open" or "closed", depending on whether there is a deficit or an excess of tissues. The latter are more difficult to identify and often even less serious. However, they cause changes in the urinary system and often difficulty in moving and walking.

The most common form of neural tube defect is spina bifida. It is an "open" defect in which the nerve tissue of the spinal cord and meninges remains uncovered. This causes a series of very serious symptoms, including paralysis of the lower limbs, psychomotor retardation, deformations of the skeleton.
The causes of neural tube defects are both environmental and genetic. The most known and also the easiest risk factor to prevent is the lack of folic acid. Some antiepileptic drugs, diabetes, anemia and exposure to certain toxic substances also contribute. The latter factor is common especially in some developing countries.

Common prenatal screening tests are able to identify some neural tube defects. For example, ultrasound can detect spina bifida as early as the 14th week of gestation. For closed defects, however, they are often identified after birth and sometimes even after months or years. In this case, the diagnosis is made by clinical observation and magnetic resonance.

For the time being there are no definitive therapies for neural tube defects. A technique to correct spina bifida in utero is under development, but it is still being tested. In daily practice, we proceed to repair the lesions and any abnormalities of the urinary system.

Source: telethon.it

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Does zinc deficiency cause infertility?

There is a wide range of factors that cause infertility or reduced fertility. According to a study by Pennsylvania State University, zinc deficiency could be among them. The substance appears to be essential in the early stages of oocyte development. When missing, the oocyte loses the ability to divide and be fertilized. For this reason, the zinc deficiency would affect the fertility of several months to come.

Most studies focus on the antral follicles, the most numerous and stimulated by the pituitary gland. The study in question, however, examines the preantral follicles. These are less numerous and still developing, therefore unable to respond to hormonal signals. The preantral follicles develop for about 90 days before being ready for ovulation. During the three months of their development, zinc plays an essential role.

The researchers analyzed the prenatal follicles of some guinea pigs and had them developed in vitro. They compared oocytes matured in zinc deficiency conditions and those matured under normal conditions. Furthermore, they exposed both growth factor groups to mimic ovulation. Oocytes matured without zinc were much less fertile and sometimes unable to divide.

The World Health Organization estimates that 17% of the global population suffers from zinc deficiency. However, the numbers indicate the most serious cases, leaving aside cases of moderate deficiency. Also within them there are both those who follow an unbalanced diet and those who suffer from particular diseases. The problem is therefore very common and the discovery could influence hundreds of women who can not conceive.

Source: the-aps.org

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Does caffeine in pregnancy increase the risk of being overweight?

A study by the Norwegian Institute of Public Health shows a link between caffeine in pregnancy and overweight in the offspring. According to the lead author, Eleni Papadopoulou, the expectant mothers should eliminate the substance completely from the diet.

The guidelines of the Norwegian Institute of Public Health advise not to drink more than two cups of coffee a day during pregnancy. Nonetheless, the data show that 2 cups are enough to increase the risk of overweight by 30%. Above 3 cups, the risk rises to 66%. Caffeine could also increase the risk of spontaneous abortion and complication during pregnancy. For this reason, researchers recommend eliminating caffeine in its entirety during pregnancy.

The researchers analyzed data from 50,943 mothers with their children, collected between 2002 and 2008. All women have completed a questionnaire dedicated to their eating habits. After giving birth, scientists compared the daily amount of caffeine in pregnancy and the weight of the child.

Prenatal exposure of caffeine was associated with a high risk of overweight in the child. The more coffee the mother had drunk during pregnancy, the greater the risk. The body takes a long time to dispose of caffeine, which then has time to cross the placenta. According to the study, however, there may also be other reasons.

The connection between caffeine and the weight of the child could only be indirect. Women who consume more caffeine tend to be more adult, overweight and often even smokers. All of these factors could affect the health of the fetus far more than caffeine. In any case, it is good to cut all foods containing the substance, at least during gestation. These include coffee, tea and chocolate.

Source: bmjopen.bmj.com

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