Aurora magazine

A study by the Center Hospitalier Universitaire Sud Réunion proves the importance of losing weight during pregnancy. This obviously applies to very obese women, whose condition endangers their health and that of the child. In these cases, the traditional guidelines do not go well.

The study had two main objectives: to determine the best maternal BMI for the child's health; study the link between weight before gestation, weight gained in gestation and size of the newborn at birth. To this end, the team of Professor Pierre-Yves Robillard analyzed over 52.092 pregnancies completed between 2001 and 2007.

The researchers divided the women into groups and determined how much weight they should take based on their BMI. The idea was to establish a link between the maternal body mass index and the child's size at birth.

From what has emerged, very thin women tend to give birth to too young children and vice versa. In the middle there are the normal-weight women. The diet during pregnancy, however, would help to rebalance at least some of the most extreme situations. Very underweight women, with a body mass index of 17 kg / m2, should take about 21.6 kg. Obese women, with a BMI of 32 kg / m2, should take about 3.6 kg. Very obese women, on the other hand, should lose 6 kg.

From what emerges from the study, therefore, who has a body mass index of 40 kg / m2 should not take weight. On the contrary, these future mothers should even carry on a diet during gestation. This would decrease the risks associated with carrying on a pregnancy in a state of obesity. While not ensuring maximum safety, it would still allow the health of the child to be safeguarded.

Source: medscape.com

The appearance of the first white hair is related to stress, as well as age. In some cases, traumatic events and diseases make white strands appear before time. The phenomenon has been known for years, but only affects some people and was devoid of convincing explanations. A study by the National Institutes of Health and the University of Alabama may have found the cause.

At first, the study aimed to study the genes that regulate stem cells. To make things easier, the researchers focused on melanocytes. These are the cells that control hair pigmentation. The follicle stem cells replace the old melanocytes periodically. When the process no longer works, the hair becomes white.
Usually the stem cell malfunction is linked to aging. However, researchers have discovered a genetic abnormality that causes premature aging of follicles and melanocytes. The mutation affects the Mitf protein (melanogenesis associated transcription factor), fundamental to protect the melanocytes against the immune system.

In guinea pigs with the mutated version of the gene, the immune system tended to damage the melanocytes. In case of illness, therefore, the mice became white before. This is because the action of the immune system hindered the stem cells and therefore the replacement of the melanocytes.
The discovery of the genetic anomaly linked to Mitf could also have an impact on other studies. From what emerges, in fact, there is a strong link between pigmentation and the immune system. This explains not only the early appearance of white hair, but also diseases such as vitiligo. Those suffering from it have patches of depigmented skin and an altered immune system.

Source: repubblica.it

Ehlers-Danlos syndrome is a rare genetic disease that affects connective tissue. Its exact numbers are not known, but it is estimated that it affects about 1 individual every 5,000 / 20,000, especially women. Unfortunately, the clinical variability often leads to underestimating it and makes the diagnosis more difficult.

The onset of the syndrome can occur at any age. In young children it is more difficult to diagnose, as joint laxity is quite normal up to a certain age. One of the main symptoms of Ehlers-Danlos syndrome is in fact an excessive laxity of the joints. This makes the person more vulnerable to dislocations and subluxations.

Several patients also exhibit soft and hypersensitive skin, with a marked tendency to bruising. The disease also affects the gastrointestinal system, causing intestinal disorders of various kinds. Among the possible complications related to the syndrome are chronic pain, fatigue, early osteoporosis and cardiovascular problems.

The parents of those who suffer often show a mild version of the symptoms. Nevertheless, to date we do not know the exact causes of the disease. One thinks of the halo-insufficiency of tenascin X, a protein encoded by the TNXB gene. This also helps make the diagnosis difficult.

Much of the diagnosis is based on clinical observation and family history. The doctors focus in particular on the articular hyperlassicity, on the hyperextensible skin and on a recurrent articular instability in the family. For the time being there is no prenatal diagnosis test for Ehlers-Danlos syndrome.

Unfortunately there is no definitive therapy for this disease, nor specific treatments. The most widespread approach is the treatment of symptoms through personalized therapies. Physiotherapy and rehabilitation can help to contain symptoms and are often accompanied by painkillers.

Source: orpha.net

Genetic tests are increasing in recent years to identify any genetic abnormalities. Some of these increase the chances of developing a tumor. Others do not harm the bearer in any way, but are hereditary and can manifest themselves in their children. If identified before conceiving, it is possible to use PMA and still have healthy children.

So we should all do a genetic test before having children? The answer is difficult.

In some cases, the need for a genetic test is obvious. For example, many women carry out the BRCA test just as a safety measure. Maybe there were several cases of a genetic disease in the family, so the probability of being healthy carriers is high. At other times even mild symptoms of the disease occur. Unfortunately, however, some genetic hereditary anomalies have no precedents in the family. At least not from memory. This makes it more difficult to understand which genetic test to perform.

Researchers at the National Human Genome Research Institute are developing a complete genetic test. Using sequencing of the entire genome, one could identify the areas most at risk, to be examined more closely. If a genetic test of this kind became accessible to everyone, it would also help those who do not know their own family history, like the people adopted. For the moment, however, the road is still long.

Dr. Sue Richards is in charge of this project. Study participants have a list of 700 genetic diseases available. The researchers ask them which ones they would like to deepen, after which they carry out the test. Many of the participants require a complete analysis of the genome, but the results are still complicated to manage.

It is estimated that 1 in 5 people have at least one genetic abnormality. Some of these are interpretable, but many others are not. Furthermore, there are some very similar genome regions that are difficult to interpret. For the moment, therefore, a 360 ° test may not be 100% reliable, as opposed to the more circumscribed ones already available.

Source: sciencemag.org