Aurora magazine

The surgeons of the Ann & Robert H. Lurie Children's Hospital in Chicago removed the ovarian tissue of a 5-month-old girl. The fabric has been cryopreserved, so as to allow the child to have a day of children, if she wants it. The girl has indeed been subjected to an anticancer treatment, which could affect her fertility.

The procedure was unique in its kind. The doctors removed a tiny ovary without damaging it. They kept it as intact as possible, so that it could be stored for future transplantation. When the baby is ready, the doctors will evaluate the best options available. One of these involves transplanting the tissue stored on the remaining ovary. In this way it will begin to ovulate and the doctors will be able to collect the oocytes for in vitro fertilization.

For the moment the technique is still experimental. For the time being, doctors have documented about 130 parts obtained in this way, almost all in the United States.

For the time being, only 2 of these have occurred in Europe. However, researchers are developing new techniques to increase the chances of success of the procedure.

Dr. Rowell, who participated in the intervention, said the researchers are working on new surgical techniques. The goal is to damage the fabric as little as possible, also improving its preservation. The technique could preserve the fertility of many small patients with tumors, but also genetic and endocrine diseases.

Source: luriechildrens.org

Researchers at Michigan State University College of Human Medicine have identified a new genetic disease in a human patient. The disease had already been described in animal models, but the doctors had not yet found a counterpart in our species.

The disease is caused by some mutations in the ODC1 gene and causes:

• high birth weight;
• big head;
• hair loss;
• reduced muscle mass;
• skin lesions;
• hearing loss;
• delays in behavioral development.

In the long run, the disorder has consequences on the neurological system that are not entirely clear. The researchers are still examining them.

The finding is relevant because the genetic disease had been detected in mice 20 years ago. The gene involved plays an important role in a large number of physiological processes and also in embryonic development. According to the researchers, there may already be an effective drug against this disease. The DFMO inhibitor, an already approved drug, could at least act against some of the main symptoms. Soon a clinical trial will start to test it.

The DFMO drug has been used for years in treating trypanosomiasis, tropical diseases transmitted by insects. In addition, doctors are testing it for the treatment of pediatric neuroblastoma and colon cancer. In mice he stopped hair loss and made them partially regrow.

The first patient of the nameless disease is a three-year-old girl. The doctors examined the blood samples taken at 11, 19 and 32 months. They compared them with those of two children of the same age and of the same kind in health.

Source: medicalxpress.com

Postponing pregnancy could increase the risk of cardiovascular disorders in women and children. This is revealed by a study by researchers at the University of Alberta, in Canada. According to Canadian scholars, the risk would be high especially for boys.

There are many studies concerning the risks of pregnancy after age 35. Some of these have highlighted problems related to a lower blood supply to the placenta, linked to a reduction of vascular functions. These same problems could endanger the cardiovascular health of both the mother and the child.

The researchers analyzed some groups of very adult guinea pigs, dividing them in: "first gestation"; "Postpartum"; "miscarriage". The guinea pigs in the last group had less dilated blood vessels than those in the other two groups. In some cases, the condition had also affected their heart health. In addition, the "postpartum" group showed a reduction in the dilation of the intestinal arteries. The phenomenon could explain why aspiring older mothers run greater risks of miscarriage and cardiovascular problems.

The study also revealed specific differences based on the sex of the young. The males showed a greater percentage of cardiovascular problems, many related to a low flow of blood. The females, on the other hand, did not show the same probability of risk. Given the increase in the average age for the first gestation, the discoveries have an important weight.

According to the researchers, the study could have repercussions on the way in which late pregnancies are addressed.

Source: the-aps.org

Chronic kidney disease is a pathological condition that causes the accumulation of toxins. The team of Professor Katalin Susztak has studied the genetic variants underlying the disease. They have thus discovered new details on the development of the disease, which could lead to the development of new treatments.

Susztak and colleagues have created an atlas of the kidneys, complete with a new molecular definition of the different types of cells in the kidneys. Each type of cell has its own unique and non-redundant function. When it does not work, the specific dysfunction can be associated with specific symptoms found in chronic kidney disease. The researchers used this study as a starting point to understand the causes of each individual anomaly.

The researchers created a database containing all genetic variations and their consequences. Each in its own way influences the expression of RNA molecules in renal cells. By integrating this information with more specific approaches, the scientists have identified the genes and cells linked to the disease. This should facilitate both the diagnosis by genetic testing and the search for treatments.

The team has discovered 27 genes that could be among the causes of chronic kidney disease. Many of these were expressed in the proximal tubule cells, part of the kidney filters. They are used to reabsorb the nutrients left in the urine. The researchers focused in particular on the gene that codes for the DAB2 protein.

To confirm their theories, the researchers analyzed guinea pigs with the disease. By reducing the expression of the DAB2 gene, they improved tubule conditions and improved the conditions of the mice.

Source: uphs.upenn.edu