Aurora magazine

Down syndrome is a condition caused by a chromosomal alteration, which causes delays in mental and physical development. What characterizes it is the presence of an extra chromosome in the cell nucleus too, specifically in the couple 21. The anomaly in question is known as trisomy 21 and in 98% of cases it is the result of factors still unclear, not attributable to ' inheritance.

There are three types of trisomy 21. In 95% of cases are referred to trisomy 21 full free, so all the body's cells have the anomaly. In 2% of cases occur in the free trisomy mosaicism, so there are both cells with the anomaly that normal cells. In 3% of cases we talk instead of trisomy 21 by translocation, for which the genetic material in most comes from other chromosomes. In the latter case, one of the parents may be a carrier of the translocation, and then the condition would be hereditary.

The causes of the chromosomal abnormality are still unclear. There are several theories about, that lead back trisomy 21 to chemicals and infections. None of these, however, was still confirmed. We know that 9% of conceptions has a trisomy, constant percentage in different populations, and that does not seem to have changed over time. Nevertheless, only 0.6% of children born with a chromosomal abnormality; in other cases, you experience a miscarriage. This suggests that the anomaly is a phenomenon linked to the way the man you play, which is not affected by changing environmental conditions.

You can use special prenatal diagnostic methods to detect the presence of trisomy in the embryo. In recent years it is spreading a non-invasive technique, which starts from a drop of the mother's blood. He is replacing the much more invasive amniocentesis, at least as regards the early stages of screening.

Children with Down syndrome suffer from some mental retardation and development, of varying severity. Speaking immediately with an appropriate rehabilitation, it is possible to recover part of the linguistic functions, motor and neuropsychological. As a result, children can become self down adults and well integrated into the social fabric

A study from the Universities of Yale and Chicago reveals that progesterone may reduce the risk of miscarriages. The researchers analyzed 116 women who suffered from multiple miscarriages in the first trimester of pregnancy. From what has been observed, taking little progesterone after ovulation would help them to overcome the obstacle of the first three months.

Dr. Harvey J. Kliman, one of the study authors, has developed a test to check the health status of endometrium. The uterine endometrium is the layer that provides nourishment to the embryo until the eighth week. From the ninth week, the mother's blood continues to perform this function through the umbilical cord. At a time when the endometrium shows abnormalities, the embryo does not receive the necessary nourishment and the miscarriage occurs. The Kliman test serves to verify precisely whether the endometrium is able to fulfill its function, so as to predict a possible spontaneous abortion predisposition.

The study participants were all women with endometrial abnormalities, which caused multiple miscarriages in the first weeks. In all cases, the embryo could attach itself to the endometrium but did not receive enough nourishment. With the intake of progesterone, however, their endometrium began to produce more nutritious and has managed to sustain the pregnancy.

It will be necessary to conduct further tests. If you had other positive results, taking progesterone for the prevention of miscarriages could become the norm.

Source: eurekalert.org

A Canadian and Australian team found a gene that makes cancer more aggressive prostate. Men with the BRCA2 mutation are more likely to develop a cancer resistant to treatments. In 50% of cases, an aggressive prostate cancer becomes lethal within 5 years of diagnosis. The discovery will help develop new treatments for the most aggressive forms of cancer.

In men with the mutation of the BRCA2 gene, prostate tumors are aggressive right from the start. The gene is responsible in fact the regulation of cell growth. For this reason, the tumors associated with BRCA2 are more resistant to traditional therapies of normal and more prone to metastasis.

Researchers compared 15 patients with BRCA2 mutated with other 500 suffering from sporadic prostate cancer, ie without genetic causes. The analyzes showed that the tumors of the first group have the abnormal molecular pathways. These include pathways linked to DNA repair and cell division. In sporadic cancers, such routes are developed at a later time, when the mass becomes resistant to hormone therapy and form metastases.

The mutation of the BRCA2 gene affects approximately 2% of men with prostate cancer. Nevertheless, the research lays the foundation for a personalized approach to treating prostate cancer. It puts into light the need to develop alternative therapies, which prevent the most aggressive forms of cancer and reduce the risk of metastases. They would be essential alternative roads where conventional treatments do not work.

Source: uhn.ca

When you are talking about prenatal tests "Melius est quam in deficit". According to a study by Quest Diagnostics Nichols Institute, a second non-invasive prenatal screening test would help it to identify false positives and birth defects go unnoticed.

The scientists analyzed duplicate maternal chromosomes, identified by genome sequencing. They identified maternal microduplications or duplications of the maternal chromosome that is easy to mistake for a trisomy. Trisomy is nothing other than the presence of an extra chromosome, that causes Down's syndrome and other diseases. When making prenatal testing, these microduplications sometimes lead to false positives. Perform a second non-invasive prenatal screening decreases instead the possibility of that happening.

The team cited a 2015 study focused on two cases of false positive for trisomy 18. From this, he examined the data of 31,278 women undergoing prenatal screening. The doctors performed a second analysis on the patients, focusing also on microduplications. They then confirmed the new results by means of a DNA microarray process. They have thus improved by approximately 30 percentage points the accuracy of the results for the three diseases: Patau syndrome, Edward's syndrome and Down syndrome. 313 of the initial cases of suspected Down syndrome, have identified 9 false positives. Of 106 diagnosis of Edward syndrome, false positives were 3, while they were 2 for the 93 positive for Patau syndrome.

The second non-invasive prenatal screening tests can also help detect abnormalities otherwise unidentifiable. An essential tool for many expectant mothers who want to ensure the health of their baby.

Source: medpagetoday.com