Aurora magazine

Survivors of sudden cardiac arrest should take a genetic test to reduce the risk of other episodes. A Swiss study published in the American Journal of Cardiology proves this. Sudden heart attacks are caused by an irregular heart rhythm that destroys the organ's functions.

The sudden loss of functions leads to loss of consciousness and, in most cases, to death. However, if action is taken immediately, it is possible that the person survives. In these cases, it is important to prevent the phenomenon from happening again. The researchers examined 60 patients who survived sudden heart attacks, average age of 34 years. None of them suffered from coronary heart disease at the time of heart attack. Yet, genetic testing revealed abnormalities related to heart disease in two-thirds of them. This could expose them to new problems and a second heart attack.

The team analyzed relevant variants in 185 genes. 32 pathogenic variants emerged in 27 patients, not all with clear cardiac phenotypes. In fact, only 17 had an identifiable cardiac phenotype. Among these, 12 had mutations related to cardiomyopathies and 4 to canalopathies.

Simply put, 16 patients had genetic mutations related to cardiovascular disease. And the others? Of those analyzed, 10 patients did not have a clear cardiac phenotype. Nevertheless, 6 of them were carriers of a mutation in the cardiac ion channel genes. This could explain their heart attack, but the other 4 cases are still unclear.

Source: medtechdive.com

According to a study presented at the European Congress on Obesity, weight loss surgery increases the risk of complications in pregnancy. The authors of the study found a higher rate of premature births, with young children suffering from congenital anomalies.

Scientists analyzed data from over 14,800 gestations in women who had worked to lose weight. They compared them with those of almost 4 million pregnancies not influenced by this factor. The results showed a higher rate of risk for the first group, which should therefore be followed much more during the nine months and immediately thereafter. Gastric bypass is a type of operation used in case of severe obesity, to help weight loss.

However, it could hinder a successful pregnancy, with negative effects on the mother and baby. In fact, the bypass hinders the absorption of essential nutrients for the development of the child. This translates into a 57% more chance of premature birth, with 29% more congenital anomalies and a lower birth weight than the average. For the moment it is unclear how exactly surgery affects fetal development.

The data, however, are clear, so future mothers with gastric bypass need extra care. It is important that they follow an ad hoc diet, enriched with supplements in order to reduce the side effects of the operation as much as possible.

Source: easo.org

The adult polycystic kidney disease is a genetic disease that affects about 1 in 1000 people. In many cases, it damages the kidneys to the point of making them unused. As a result, the patient is forced to spend the rest of his life on dialysis. Researchers at the Mario Negri Institute may have found an alternative solution, however. It appears that the octreotide drug slows cyst development and allows the kidneys to function longer.

The researchers involved 100 patients in a study called "Aladin 2", all with impaired kidney function. Half of them received octreotide once a month for 3 years, half received a placebo to act as a control group. Patients in the first group showed clear improvements over those in the second.

The drug slowed cyst growth and preserved part of the kidney function. This has reduced the need for dialysis, even in cases with severe kidney damage. It has not eliminated the damage already present, but at least has reduced the development of new ones. The hope is to be able to use the drug to prevent kidney failure, saving dialysis on patients identified in time. The study represents a big step forward compared to standard treatments.

Today, secondary disorders of the polycystic kidney are mainly dealt with, such as arterial hypertension and metabolic alterations. Unfortunately, there were no ways to slow or stop the development of cysts. It seems that things are changing.

Source: corriere.it

An international team of researchers has identified a rare genetic mutation, the cause of an inherited metabolic disease. The mutation has been found in the DNA of three children with degenerative diseases, without diagnosis. Although the gene is intact, it is repeated so many times that it is in fact unusable.

A phenomenon that is impossible to detect, except with whole-genome sequencing. At first, the researchers led by Dr. van Karnebeek failed to identify the genetic variant. The BC Children's team then intervened with a whole new approach. Scientists used manual analysis and combined bioinformatics tools. In this way they were able to identify the repetitions that prevent the gene from functioning. A discovery also possible thanks to a multidisciplinary approach.

The identified gene encodes the enzyme that regulates the glutamate-glutamine cycle. It is not yet clear how the anomaly causes the disease. It is likely to be the fault of excess glutamine or glutamate deficiency. The discovery finally provided a diagnosis to the three children and their families. Above all, it opens the door to the development of possible treatments even for more common diseases. Further research will be needed to develop gene or drug therapy.

To combat the effects of metabolic disease, dietary changes and dietary supplements may also be needed. All in order to slow down or even stop the damage caused by the disease.

Source: ubc.ca