Aurora magazine

Binges during pregnancy can have serious consequences for the health of mother and child. Yet, a study published in "The American Journal of Clinical Nutrition" has shown how surprisingly common they are. About 36% of women have admitted they have been binged at least once in pregnancy. Almost 5% admitted to having done so frequently.

Several previous studies had investigated the incidence of anorexia and bulimia during gestation. Few of these had considered binge eating or loss of control over eating. The expression indicates the episodes in which you continue to eat although you are willing to stop.

Scholars analyzed data from over 11,000 British women. Data showed that 36% of women lost control of eating at least once during gestation. The phenomenon was found frequent only in 5% of women, however. The latter acquired around 3.5 kg more than the average. In addition, their children have shown twice the chances of becoming obese before the age of 15.

The study linked pregnant binges to lower levels of B1 and folic acid. Many of the women affected by the phenomenon have in fact reported a greater consumption of sweets and fats. This means that they have acquired more calories than necessary but fewer vitamins A, C and B6.

The study does not say exactly how pregnancy binges are related to childhood obesity. The connection seems to be there anyway. Identifying women who hold such behaviors, therefore, could help them and their children get better.

Source: theconversation.com

A study by UT Southwestern identified the genetic mutation causing optic neuromyelitis. This is the most important genetic study so far conducted on the disease. Scientists have collected the DNA of over 1,200 patients. Thanks to the discovery, it will be possible to better understand the development of the disease and improve its treatments.

Optical neuromyelitis is a potentially fatal genetic disease. In those who suffer from it, the immune system attacks the cells of the optic nerves of the spinal cord. This causes blindness and paralysis. Some patients manage to recover thanks to treatments and rehabilitation. Many others receive a wrong diagnosis of multiple sclerosis and are at risk for permanent damage.

Genetic analyzes have unveiled a variation in a complementary component of a gene. The gene produces a protein that helps the antibodies to bind and damage everything that the antibodies attack. If the gene works well, the antibodies bind to harmful bacteria. In the case of neuromyelitis, the antibodies bind to parts of the nervous system which are then damaged.

Identifying the genetic variant, together with the clinical data, could facilitate the diagnosis. It will also be a way to immediately identify the best treatments for patients, based on the type of illness they suffer from. For some subjects the standard treatments are sufficient, for others not. For the moment we do not know the reason, but the DNA could give an answer.

Usually neuromyelitis optic appears along with other genetic diseases. It is rare that it occurs alone: ​​it affects about 0.3 US per 100,000. This makes it even more difficult to study it and understand its genetic mechanisms. The study in question aims to take a step forward, analyzing the whole genome and not just isolated portions like others.

Source: medicalxpress.com

Thanks to an international research that has also involved the Bambino Gesù Pediatric Hospital, the causes of the nephrotic syndrome are known. Kidney disease mainly affects children and is very debilitating. However, the discovery could facilitate the diagnosis and processing of new treatments.

The researchers analyzed the DNA of pediatric patients from two continents. They have thus identified some genetic anomalies that predispose to the so-called cortico-sensitive nephrotic syndrome of the child. The discovery is of great importance, since until now the causes of the disease were almost completely unknown. Also for this reason, the available treatments are not specific and have great side effects.

Leading the international team was Dr Pierre Ronco from the La Sorbonne University in Paris. Scientists collected samples taken from almost 400 French, Spanish and Italian children. To these were added 100 US samples.

Analysis of DNA samples revealed a number of variants located near the human leukocyte antigen (HLA). This is the system responsible for regulating the immune system. The anomalies placed here seem to predispose to the development of the disease. Depending on the type of anomaly, the form of pediatric nephrotic syndrome also changes.

The discovery will improve the diagnosis of different forms of the disease, helping to identify those with a better prognosis. He also reinforced an existing hypothesis, which wanted the cause of the disease linked to a poor regulation of the immune system.

Source: repubblica.it

Severe combined immunodeficiency is a rare congenital disorder characterized by impaired immune responses. The disease is inherited mainly from the mother. The children who suffer from it are almost free of T and B lymphocytes, as well as other defense mechanisms of the organism.

Children who suffer from severe combined immunodeficiency are also called "bubble children". The name derives from the need to keep those who suffer in a bubble, almost literally. An emblematic case was that of David Vetter, who lived for 13 years in an isolated and germ-free room. Any contact with the outside would have killed him, David being completely devoid of natural defenses.

In this form of immunodeficiency, the body becomes ultra-sensitive to infections. Even the most trivial disorder can be lethal for those suffering from this disease. On the other hand, an early diagnosis followed by ad hoc treatment can save the lives of many children.

Although severe combined immunodeficiency is caused by various genetic abnormalities, the symptoms are always the same. The typical sign of the disease is an increase in vulnerability to serious infections, such as pneumonia, meningitis and sinusitis. Sick children also suffer from a chronic form of diarrhea and are less receptive to traditional treatments. In the presence of all these symptoms, diagnostic tests should be performed as soon as possible.

Diagnosis usually occurs through a blood test. Doctors verify the presence - or rather, the absence - of B and T lymphocytes and antibodies. Unfortunately, the early diagnosis of the disease is infrequent: the first clinical manifestations appear weeks after delivery. During this time, the baby has come in contact with numerous germs that may have compromised his organism.

In the event that parents know they are healthy carriers, it is possible to perform a fetal DNA test. This allows immediate intervention and guarantees a better future for the child.

Source: news-medical.net