Aurora magazine

In pregnancy there are many obvious changes in the woman's body, which adapts to accommodate the fetus. A study by Dr. Flavia Cardini reveals that together with physical expansion there is a mental one. During the third quarter, pregnant women experience an increase in their personal space.

The researchers asked a group of pregnant women to define their own personal space. The women were blindfolded and had to press a button as soon as they touched the abdomen. In some cases the answer was disturbed by a long sound, which seemed to start from afar and approach. Usually, people react more slowly to the touch when the sound seems far away. When it starts to approach, however, they are more reactive. Dr. Cardini and her team verified whether the responses of pregnant women reacted differently. From what emerged, during the pregnancy the answers vary.

Women at the 34th week of gestation responded more quickly to the touch, especially when compared to other non-pregnant women. This means that their perception of personal space is wider. According to some psychologists, it could be a protective reaction towards the baby bump to defend. Yet, the phenomenon occurs only very far in the gestation: the women at the 20th week have not in fact showed any change.

Dr. Cardini expected changes even in the early stages of gestation. Perhaps, in the first few weeks, the need to protect the baby's bump is less pronounced. However, this also explains why so many women experience a heightened discomfort when relatives and friends insist on touching the baby bump.

Source: sciencenews.org

Proteus syndrome is a rare genetic disease, with only 120 cases described to date. Those who suffer seem healthy at birth and the first symptoms occur only around 6-18 months.

The children show a symmetrical overgrowth, which usually affects the hands and feet. Excessive finger development and asymmetrical stretching of the limbs follow. Often these children have one leg or arm longer than the other, with deformations that can also affect the skull. As the disease progresses, cerebriformal nevi of the connective tissue can develop throughout the body.

On the neurological level, Proteus syndrome causes cognitive impairment, sinus thrombosis and intracranial lesions. Benign and, more rarely, malignant tumors also appear. There is also the risk of complications such as bullous pneumopathy, pulmonary embolism, deep vein thrombosis.

Diagnosis is made by clinical observation and molecular tests. There are three categories for the disease, each with its own specific criteria related to the most common symptoms. If these criteria do not occur, it is possible that this is a disease similar to Proteus syndrome but not comparable to it. The most common are CLOVE and Maffucci syndromes, Ollier's disease and others.

Unfortunately, there is no tool for prenatal diagnosis: most of the cases are related to sporadic, non-hereditary anomalies. However, good genetic counseling is recommended for those who experience PTEN mutations. In fact, these subjects can transmit the disease with an autosomal dominant mode.

There is no resolution therapy for Proteus syndrome. The approach is multidisciplinary and includes interventions to control the most severe symptoms. Physiotherapy and occupational therapy are helpful in many cases, as well as the removal of tumors and suspicious deformities. The prognosis changes depending on the severity of the complications.

Source: orpha.net

In vitro fertilization (IVF) raises many questions, many of them related to the consequences on the offspring. One of these concerns the risk of getting cancer in children born thanks to these techniques. According to a study led by Professor Flora van Leeuwen, assisted reproduction techniques do not influence the chances of getting sick.

The study analyzed data from 47,690 children born between 1980 and 2001. Among these: 24,269 were conceived with assisted fertilization; 13.761 were designed naturally; 9,660 were naturally conceived by infertile couples, even with ovarian stimulation. The scholars followed them for an average of 21 years of life.

The researchers compared the rate of tumors among these children in the general population and naturally conceived children. In the latter group there were also children conceived naturally by infertile women. This allowed us to analyze infertility as a risk factor in its own right.

Among the children involved, 231 became ill with cancer; 31 were ill with leukemia and 26 with melanoma. Researchers took into consideration factors such as age, parental fertility, exposure to risk factors. From what has emerged, there are no substantial differences compared to naturally conceived children. This applies to children born to women who are not very fertile and to those born to women without problems. Nevertheless, there is an interesting data.

Although the difference is not statistically significant, children conceived by intracytoplasmic sperm injection appear to be more at risk.

Source: eshre.eu

The first clinical trial of gene therapy for beta-thalassemia demonstrated its effectiveness. When given at a young age, treatment makes transfusions superfluous for more than 3 out of 4 patients. The results are the result of more than 10 years of work, conducted by researchers from the San Raffaele University, the Telethon Foundation and Orchard Therapeutics.

The study involved 9 patients of different ages:

• 3 children under 6 years;
• 3 teenagers;
• 3 adults over 30 years.

All patients suffered from severe thalassemia, which forced them to periodic transfusions. The researchers collected the patient's own stem cells, after which they introduced a working copy of the beta-globin gene. At this point they reinfused the correct stem cells and waited for them to take root in the bone marrow.

More than a year after the last transplant and three years after the first, the therapy proved to be effective. Of the 4 younger patients, 3 are completely independent of transfusions. Adult patients still have to transfuse, but with a much lower frequency. Only one of the children has not benefited from the therapy, but the researchers still do not know why.

According to the researchers, the trial proves how important it is to intervene in the early stages of the disease. Beta thalassemia in fact affects the integrity of the bone marrow: intervening at a young age interrupts the progression of the disease when the damage is relatively few.

Source: corriere.it