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Aurora magazine

The blog about the prenatal genetic of latest generation

Male infertility: symptoms and causes

Male infertility is related to dysfunctions in different organs and tissues, which can not always be identified with certainty. Some of these are permanent, but others are manageable with lifestyle changes. The main causes are pre-testicular, testicular and post-testicular.

Pre-testicular causes are related to hormones that regulate testicular functions. The most common causes are the functioning of the pituitary gland, a fundamental endocrine gland for spermatogenesis. In some cases the gland does not produce enough FSH, the hormone that regulates the production of spermatozoa. By placing the testicles in optimum conditions, fertility should also be restored.

Testicular causes are the most common and concern the very structure of the testes. In the case of cryptorchidism, the testicles remain within the abdomen, reversible condition. Those suffering from varicocele, however, have veins of the testicle too dilated. This condition increases the body temperature, killing the sperm, and damaging the production itself. Finally, there are orchitis, that is, testicular inflammation that can damage the mechanisms of spermatogenesis.

Post-testicular causes touch the sperm passage outside of the gonads. In these cases infertility is caused by the failure of sperm output, which remain blocked. Obstruction can be caused by congenital malformations or with time. In some cases the cause is an inflammation or an alternate response of the immune system, which attacks spermatozoa.

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Researchers discover new genetic brain disorder

Scientists from the UK, the Netherlands and the United States have discovered a new genetic disease. The disease affects the brain and causes serious problems in development. The first to hypothesize its existence was Dr. Siddharth Banka, analyzing the cases of three children.

Dr. Banka's three patients showed too large or too small brains and developmental deficits. All three had mutations in the RAC1 gene, which had never been linked to any human disease. In addition, no previous study had ever linked anomalies to just one gene with such serious brain damage.
To test the theory, Professor Han Brunner and Dr. Margot Reijnders analyzed four more children. Even these patients had mutated versions of the gene and abnormally sized brains. Some of them also suffered from epilepsy and had heart problems.

Assessed the probable link between RAC1 and brain size, scientists went to testes on the guinea pigs. Dr. Tom Millard used brain cavity cells with a modified version of RAC1. He noticed that gene abnormalities also affected the size of cells. Similar effects were found on zebrafish.

The international team has discovered a new genetic disease, but not only. Research has revealed the importance of RAC1 in brain development by adding information to an obscure subject.

Source: medicalxpress.com

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Test of cervical mucus may reveal pregnant women's risk of preterm birth

About 18% of children are premature. One million of them do not survive, while the remaining ones are endangered. To date there is no prenatal screening test that can say with certainty whether a woman will give birth before the time.

MIT scientists have discovered significant differences in cervical mucus of preterm delivery women. Analysis could be a safe way to calculate the risk of premature delivery. This way the doctors could act to delay labor or prepare the care for the baby.

An earlier study revealed that 25-40% of premature births are due to infections. In these cases, the microbes reach the uterus through the cervical canal, overcoming the cervical mucus barrier. In addition, women with risk pregnancies have shown to have a much weaker and elastic mucus layer. All this suggests that analyzing the mucus before delivery could help prevent any problems.

Scientists have analyzed the cervical mucus of two groups of patients who have just become mothers. Women in the first group had low-risk gestures, those of the second high-risk group. The women of the first group had given birth in terms, the others between 24th and 34th week. The doctors were able to distinguish the samples taken from the one rather than the others by studying its permeability.

The mucous barrier of women with high risk pregnancies was more permeable than the average. This facilitates the entry of bacteria and microbes, resulting in dangerous infections for the baby. In addition, the altered mucus seems to be less able to retain immune cells and antibodies that could fight the infection.

Source: web.mit.edu

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Schizophrenia: could lack of nutrients in pregnancy be a cause?

Researchers at the RIKEN Research Institute have discovered a new link between pregnancy and psychiatric illnesses. Pregnancy deficiency of omega 3 and omega 6 facilitates the appearance of schizophrenia in adulthood. The consequences are even more serious if deprivation concerns the early stages of gestation.

Dr. Takeo Yoshikawa's study analyzed how malnutrition in pregnant women affects the development of the fetal brain. The data show that after great famine the rate of schizophrenia doubles. This made it possible to think of a direct link between lack of nutrients and abnormal brain development.
Scientists have made a list of possible nutrients whose deficiency could cause schizophrenia. After several analyzes they concentrated on omega 3 and omega 6, two fatty acids present in large quantities in the brain. They have deprived some pregnant mice of the two nutrients and have followed the development of their little ones. Once adults, many puppies showed similar symptoms to schizophrenia.

One of the main features of schizophrenia is the presence of dysfunctions in the prefrontal cortex. The team analyzed whether deprivation of the two fatty acids had affected the genes linked to that area. They have thus discovered anomalies that have been linked to the disease in the past. In addition, they detected dysfunctions in the genes regulating GABA neurotransmitters.

Locating genes affected by omega 3 and omega 6 deficits, scientists have studied how to reverse the process. They administered a drug that acts as a nuclear RXR receptor. Therapy has regulated the action of the affected genes and has normalized many cavity behaviors.

Source: riken.jp/en

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