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Aurora magazine

The blog about the prenatal genetic of latest generation

Screened to diagnose anxiety during pregnancy

A study published in the British Journal of Psychiatry Open aims to improve the diagnosis of anxiety in pregnancy. The authors have in fact developed a type of specific screening for future mothers. In this way we will identify more cases of prenatal anxiety, which today tend to remain undiagnosed and therefore not treated.

For now, the National Institute for Clinical Excellence recommends traditional diagnostic tools. According to the study, however, these may not be sufficient for pregnant women. In fact, traditional screenings aim at symptoms such as palpitation and difficulty in getting to sleep, but they are also common in non-problematic pregnancies. As a result, researchers at Nursing, the Midwifery and Allied Health Professions Research Unit (NMAHP-RU) have developed a more specific screening.

Researchers have identified a number of specific symptoms for prenatal anxiety. To this end, they have evaluated all the studies conducted on the topic in recent years. To get more accurate results, they used anxiety scales even on pregnant and healthy women. In this way they identified symptoms much more relevant to this precise area, which could become reliable indicators of prenatal anxiety.

Prenatal anxiety symptoms identified include: excessive concerns about one's health and that of the child; panic; fear of childbirth. If left untreated, all these symptoms can result in a real depression, with negative consequences for the mother and the child. Thanks to the study, however, will fall into a new scale to be used for screening in pregnant women.

Source: stir.ac.uk

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Smoking affects the outcome of assisted fertilization

Smoking could reduce the chances of successful assisted fertilization. Not only smoking during the cycles, but even having it done up to three months before could prevent its success. This was revealed by a study by the Centers for Disease Control and Prevention (CDC), led by Dr. Karilynn Rockhill of the Oak Ridge Institute for Science and Education in Tennessee.

Dr. Rockhill's team conducted a retrospective study of data collected between 2009 and 2013 in the United States. The researchers found that more than 12,000 cycles could have been influenced by smoking. The defect seems to be linked to several causes of cancellation, including the lack of fertilized oocytes and embryos suitable for implantation. In fact, smoking reduces the effectiveness of assisted fertilization and could also affect fertility.

According to doctors, it is important that doctors discuss this with patients looking for a child. In fact, the negative effects of cigarettes are known during pregnancy, but less attention is paid to what happens before. Instead, cigarettes could have an extremely negative influence on the results of assisted reproduction cycles. It is therefore important that the expectant mothers stop as soon as possible, thanks to the psychological support of their doctor.

Source: home.liebertpub.com

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Hemochromatosis: a very dangerous silent disease

Hemochromatosis is the most widespread genetic disease in the western world. They call it the "silent disease", yet it could be much more dangerous than previously thought. According to two high-level studies, the pathology would raise the risk of contracting other dangerous diseases and even disability. The first study comes from a team at the University of Exeter in the United Kingdom; the second comes from the University of Connecticut, in the United States. The two groups cooperated, arriving at the above conclusions.

Those suffering from hemochromatosis absorb too much iron and accumulate it in the body. Over time, excess iron damages the organs and can cause further diseases. It is estimated that about 1 million Americans suffer from the hereditary form of the disease. The authors of the study suggest creating routine screening for people at risk. Blood tests and genetic tests could in fact save the lives of many people.

Hereditary hemochromatosis was thought to be relatively harmless. Professor David Melzer states that this is not the case. The team examined data from 2,890 British patients with HFE and C282Y genetic mutations. In the group the incidence of further diseases was 1 in 5 in men and 1 in 10 in women, higher than in those who did not have mutations.

These people, all aged between 65 and 70, were more susceptible to chronic frailty and pain. During the study, 14 of them died of liver cancer. An additional study showed that 9% of patients with the two mutations became seriously ill with liver cancer. Yet the diagnoses are often late, leaving no time for preventive therapies. In many cases, little would be enough to significantly reduce the incidence of further fatal diseases.

Source: exeter.ac.uk

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Hereditary hemochromatosis: causes and symptoms

Hereditary hemochromatosis is a genetic disease that causes an accumulation of iron in the body. The classic form is the most common and appears in adulthood, often remaining asymptomatic throughout life. The most obvious consequences usually occur with the passing of the years: chronic fatigue, joint pains, cirrhosis of the liver, heart problems, diabetes.

There is also a juvenile form, more severe and that occurs between 10 and 20 years with serious heart problems. The third form is intermediate between the first two, while the fourth is the most heterogeneous. In some cases it resembles the classical form, while in others it is more benign.

The first three forms are all caused by the malfunction of hepcidin, the iron hormone. The fourth is instead focused on ferroportin, the target of the action of the first hormone. The hormonal anomalies in question are related to the alterations of different genes, with also different modes of transmission.

Classical form, HFE gene and autosomal recessive mode.
Juvenile form, HAMP and HJV genes with autosomal recessive modality.
Third form, TFR2 gene and autosomal recessive mode.
Fourth form, mutations in the gene coding for the ferroportin protein and autosomal dominant mode.

The first signs of hereditary hemochromatosis are the altered values ​​of iron in the blood. At this point we continue with an analysis of liver deposits in the liver, which are increased. To do this we use an MRI or a liver biopsy, in rarer cases. The final confirmation comes from genetic analysis.

The standard therapy includes the salassotherapy, or the withdrawal of about 400 ml of blood per week. It is done 2-6 a year depending on the needs, as long as the iron values ​​have not returned to normal. Those who can not do the salts use chelators, drugs that capture iron. If action is taken before the iron damages the liver, life expectancy is normal.

Source: telethon.it

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