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Aurora magazine

The blog about the prenatal genetic of latest generation

Does DDT increase the risk of autism?

An international research team analyzed more than 1 million Finnish pregnancies. According to the findings, high levels of DDT in maternal blood increase the risk of autism for children. It is the first time that a study links the insecticide to the disease. The study was led by researchers at Columbia University, in collaboration with the University of Turku.

The researchers followed 1 million pregnancies between 1987 and 2005, among which they identified 778 cases of autism. They then compared the data of the mothers of autistic children with those of the mothers of healthy children. In particular, they searched for traces of DDE in blood samples taken in the early stages of gestation. This is a metabolite of DDT, or a product resulting from the assimilation of DDT.

According to the data, women with high levels of DDE in their blood were twice as likely to give birth to an autistic child. To have more reliable data, researchers also took into account risk factors such as maternal age and genetic predisposition. The adjustments confirmed what emerged at first. This means that prenatal exposure to DDT could cause autism.

DDT is illegal both in the United States and in Finland, but its traces persist in the food chain. It will take decades before they disappear completely and while they continue to influence us. The substance is able to cross the placenta, so it is also dangerous for the fetus.

Source: mailman.columbia.edu

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Prenatal exposure to violence makes violent?

Infants exposed at the prenatal stage to violence have a higher rate of aggressive attitudes towards mothers. This is supported by a research by the professors Laura Miller-Graff and Jennifer Burke Lefever, of the University of Notre Dame.

Pregnant women are more exposed to domestic violence than others. Many studies therefore focus on the negative consequences on the progress of gestation. This study analyzes for the first time the long-term consequences on child psychology. It has emerged that prenatal exposure to violence has more profound consequences than could be believed.

Despite exposure being indirect, children show repercussions of up to 2 years of life. The children of women who are victims of violence are more aggressive, less likely to obey their mother. Nevertheless, this aggression tends not to leave the home. Most of the children analyzed have normal behavior with their peers and vent aggression only on the parent.

Most of the support systems identify the exposure of children to cases of domestic pre-school violence. Unfortunately it may already be late to avoid a negative impact on the baby, as well as obviously on the mother.

According to the authors of the study, pregnancy could be a good time to identify episodes of violence and intervene. Women are under constant control because of gestation, in contact with doctors and psychologists. Moving later, as usual, could be late for mothers and children.

Source: eurekalert.org

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An algorithm for diagnosing rare diseases

Professor Gill Bejerano of the University of Stanford has developed an algorithm to facilitate the diagnosis of rare diseases. The algorithm compares patient symptoms and genetic data to a database. In this way it accelerates the diagnosis and allows to identify even rare and little known diseases.

Professor Bejerano and colleagues describe the algorithm in an article published in Genetics in Medicine. The code automates the most mechanical part of the diagnostic work, that is the comparison between the patient's genetic sequences and the scientific literature. Without the help of the computer, the process takes about 20-40 hours per patient. The algorithm - Phrank - cuts 90% of the time needed.

Phrank compares the patient's symptoms and genes with data from the medical literature. Unlike other algorithms of this kind, Phrank is not bound to a specific database. After the comparison, the algorithm generates a list of possible genetic diseases, assigning each a probability score. In this way the doctor has a starting point to make a diagnosis, all in less than an hour.

The team of researchers validated Phrank on the genetic and medical data of 169 patients. The algorithm proved to be much more effective than all those elaborated up to now. However, it has been tested on artificial patients: for such studies, it is difficult to find a sufficient number of real patients, at least in the early stages.
To confirm the effectiveness of Phrank, real patient data will be required. With all its limitations, however, it is a good starting point to facilitate the work of doctors.

Source: med.stanford.edu

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Australia moves against polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is the leading cause of female infertility. The Australian researchers have therefore developed a set of guidelines for early detection and treatment of the disease. In this way they hope to facilitate the diagnosis of the disorder, improving the treatments and the possibilities of preventing complications.

The drafting of the guidelines involved 70 experts, who worked on the project for over 15 months. The guidelines have been published in three international newspapers, so as to reach as many professionals as possible. Some of the experts are also working on translations, to facilitate their dissemination and reception.

Polycystic ovary syndrome is a hormonal or endocrine disorder, linked to too high levels of insulin. This causes: increase of facial hair; hair loss; abnormalities in ovulation; weight gain; anxiety and depression. In severe cases, the disorder causes infertility. Nevertheless, early detection can help prevent more severe affections and preserve fertility.

The project started from research, from which emerged that many women do not receive adequate treatment for the disease. The guidelines aim to improve the criteria of diagnosis and to stimulate simple and ad hoc tests. Furthermore, it takes into consideration the influence of lifestyle on the disorder and any changes to be made. For example, it has been proven that obesity increases the risk of PCOS-related complications.

Source: monash.edu.au

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