Aurora magazine

What are the genetic risk factors of glioma? A consortium of 14 research centers analyzed the genetic profile of the brain tumor. In this way, he has identified 13 new markers, which are added to the 13 already known. The discovery will make it easier to assess the risk of illness and develop personalized treatments. The international team analyzed the genomes of nearly 12,500 people with glioma.

This compared with that of 18,000 healthy individuals used as a control group. The operation helped to define the different types of cancer at the molecular level, also taking into account the degree of malignancy. In addition, it highlighted million variants involved in tumor development and 13 new markers. Depending on the type of glioma and its aggression, the researchers identified several genetic causes. All identified alterations involving single nucleotide of DNA, the letters of the double helix. Despite being very small, affecting fundamental genes to control aging and cell proliferation.

The changes are also present in genes with functions related to cell survival. To date knowledge of risk factors of glioma was limited. According to Melissa Bondy, one of the authors, the study has provided a much broader genetic profile of the disease. This has allowed the development of new theories on the development and evolution of the tumor. The discovery could save the lives of millions of people, because gliomas are among the most common brain tumors in adults. Before the research has implications in the clinical setting will take time.

The objective is to calculate the risk of cancer based on the presence or absence of certain genetic abnormalities. But it is still unclear how these mutations interact with each other. In addition, the quantification of risk still lacks the precision seen in genetic testing for breast and ovarian cancer. The road traveled, however, is the right one.

Source: repubblica.it

The tumors of the parathyroid gland affect the endocrine glands that are located near the thyroid gland, usually on the neck. There are benign and malignant versions; in the first case to speak of adenoma, in the second of parathyroid carcinoma. It is a very serious and very rare disease, which leads to death for dependent complications of blood and bones.

The parathyroid carcinoma affects mainly men and women between 45 and 50, but can appear at any age. The main symptom is a hypersecretion of PTH, parathyroid hormone that controls calcium levels in the blood. It presents with a palpable lesion on the neck and causes bone disease in 76% of cases and in 26% of renal dysfunction. The most severe cases are, however, those without the hypersecretion, as more difficult to diagnose. In these cases, the diagnosis is often delayed and it becomes difficult to intervene.

The parathyroid cancer symptoms are mostly related to excess calcium in the blood. This leads to the weakening of the bones, leading to pain and abnormal fractures. It also causes the accumulation of calcium in the kidneys, leading to development of thirst and frequent urination, and kidney stones. Given the involvement of the thyroid gland, symptoms include fatigue and weakness. If you experience these symptoms, you should do a background check. But it is good to remember that the causes of excess calcium in the blood are not all of which connect to the tumor.

The diagnosis of parathyroid carcinoma is often difficult. The PTH hypersecretion is the most important clue, but it is not always present. In suspected cases, doctors also prescribe serum calcium levels, ultrasound scan of the neck and parathyroid glands.

If detected in time, a possible approach is the correction of hypercalcemia and surgery. In many cases, however, the operation is also done in the case of a suspected gland, without confirming that it is a tumor. Once you eliminated the tumor, chemotherapy and radiation are not very effective for preventing relapses. The only way forward is the repeated recourse to surgery, at least for now.

Researchers at Baylor College of Medicine, Texas Children's Hospital and Rice University have discovered a new possible cause of female infertility. The fault would be a mutation of NLRP2 and NLRP7 genes. The mutations cause abnormal development of the placenta and embryo loss, even in the case of in vitro fertilization. The discovery will give an answer to many women who are unable to have a child and do not know why.

According to experts, in the case of 10-15% of infertile couples the cause is unknown. The same applies to 50% of women with recurrent spontaneous abortion. Mutations of genes NLRP7 NLRP2 and are harmless to the physical and mental development, so go unnoticed. Animal models, however, will reveal the role in the reproductive mechanism.

The researchers examined the Nlrp2 gene, the murine equivalent of NLRP2 and NLRP7 genes. The gene-free males showed no problem whatsoever. The females lacking the gene were normal to physical and cognitive point of view. The problems emerged only at the time of mating, who had three outcomes: some remained non-pregnant females; some were giving birth to stillborn pups and anomalies; some gave birth a few pups at a time. The small last group were often too large or too small compared to the average.

The methylation of certain genes occurs when the mother sends them to his son. In females devoid of Nlrp2 gene, the process is absent. It follows that missing part of the small chemical modification of DNA that is used to control the expression of embryonic genes. According to the researchers, the Nlrp2 proteins are largely external to the cell nuclei and are part of the subcortical mother complex. The complex is in turn part of the whole protein molecules that ovum and prepare it for fertilization.

When the Nlrp2 gene is missing or inactive, the subcortical complex is not formed and the methylation of the DNA fails fetus. This phenomenon makes it unlikely not only natural conception, but also in vitro fertilization. In these cases, in fact, the embryo does not develop and does not take root in the uterus. This could explain many of the failures that are difficult to understand procedure.

Source: bcm.edu

Grease in pregnancy is normal and healthy, within certain limits. A mother's body mass index is too high in fact harmful to the woman and child. The University of Michigan study also reveals a link between weight before conception, gain in pregnancy and obesity later. The trend was particularly common among younger moms.

The researchers analyzed data from more than 1,000 women who became mothers between 15 and 24 years. They took into account in particular the body mass index before conception and the weight gained during pregnancy. They then interviewed the women about access to health care and local welfare services. They asked them if they would help in the growth of children and if they were victims of domestic violence.

According to Dr. Tammy Chang, who led the study, it is essential that young mothers understand the importance of a healthy lifestyle during pregnancy. Check your weight has an impact both on the woman's life than on that of the child. Pregnancy is an opportunity to hire a balanced lifestyle, characterized by healthy and exercise power. Not all, however, the future include mothers, especially the younger ones. They often face problems that adult women do not have, making them more vulnerable. In addition to adopting a healthy lifestyle and follow a balanced diet is good undergo during pregnancy to prenatal screening tests such as fetal DNA test.

Source: sciencedaily.com