Aurora magazine

A team of researchers in the United Kingdom has studied the efficacy of genetic tests combined with normal ultrasounds. The team included scientists from the Wellcome Sanger Institute, the University of Cambridge, the University of Birmingham, the Great Ormond Street Hospital.

According to the study, fetal DNA sequencing makes it possible to identify about 10% more anomalies. Many of these would have been impossible to identify even after birth, making it more difficult to intervene in time. As a result, adding genome sequencing to traditional screening could provide a large number of benefits.

The team sequenced fetal DNA in 610 pregnancies; in all these, the fetuses had at least one anomaly evident already from the ultrasound. Thanks to the genetic test, scientists have diagnosed the presence of a genetic disease in 52 cases. Most of these fetuses had heart problems, skeletal abnormalities, multiple organ problems.

Identifying the possible presence of a genetic disease can help parents in more than one way. It allows them to investigate whether or not they are healthy carriers of the disease, so as to take the appropriate precautions in the case of a second pregnancy. It allows them to speak with specialists before the child is born, to identify the best therapies. All this is impossible without a prenatal diagnosis.

According to the authors of the study, genetic tests should become routine. At the very least, you should apply them in case of anomalies evident from the ultrasound.

Source: medicaldevice-network.com

There could be a link between positive thinking in pregnancy and mathematical abilities of the unborn child. This is reported by a study by the University of Bristol, part of a larger series examining the link between "locus of control" in parents and traits of children.

The locus of control is a psychological measure that indicates the perceived degree of control over the world. Those with an external locus believe that striving is useless, that everything depends only on the outside world. Those who have an internal locus are more inclined to action, because they believe that everything depends on themselves. In the 1990s, researchers evaluated this measurement in over 1,600 pregnant women. Years later, they evaluated the mathematical skills of their children aged 8, 11 and 13.

According to the study, women with an internal locus during pregnancy had more skillful children in mathematics. Much of the credit is likely to be linked to the way these women have raised children. Many of them gave small foods designed for brain development, read their stories, helped them with their homework. All behaviors that help to develop their skills and to better face the world. Yet there is more.

Women with internal locus were much more aware of the consequences of their lifestyle on the fetus. As a result they ate well, slept the necessary, tried to avoid sources of stress. All behaviors with a positive impact on fetal development, which could partially explain the long-term benefits on children.

Source: bristol.ac.uk

Ankylosing spondylitis - or ankylopoietic pelvispondylitis - is a genetic disease that affects the spine. It affects above all men and manifests itself around twenty years with pain, joint problems, heart problems. In its most severe forms it is very debilitating and can also affect the eyes, intestines and lungs.

The disease is a form of chronic inflammation, which originates from the point where the ligaments join the bone. Inflammation wears ligaments and the body replaces them with bone tissue. As the inflammation proceeds, more and more bone is formed which replaces the elastic tissue and limits the movements. When the process touches the spine, the vertebrae merge and form a single bone column. At this point, the damage is irreversible.

Ankylosing spondylitis is an ancient disease, perhaps the one Leopardi suffered from. Paleopathological studies have even revealed Egyptian mummies with damage compatible with the disease. Despite this, the first traces in the medical literature date back to 1559. Doctors have identified it as a distinct disease only in the mid-1800s. In the mid-1900s, X-rays allowed a better distinction compared to rheumatoid arthritis.

Even today it is unclear what the genetic cause of ankylosing spondylitis is. 96% of Caucasian patients have B27 protein on the surface of white blood cells. There should therefore be a genetic link, but it seems that environmental factors are important too.

The disease has important consequences on lifestyle: it makes it more difficult to work, the pain disturbs sleep and often also prevents driving. The often delayed diagnosis and the absence of a resolutive therapy contribute to making these people's lives even more difficult.

Source: sanihelp.it

A team of Sapienza di Roma analyzed the genetic causes of male breast cancer. Given its low incidence, in fact, there are very few studies in this regard. The Italian scientists have instead focused on the genes that make Italian men more prone to cancer. The aim is to understand the basis of the genetic susceptibility of this form of cancer, so as to improve diagnosis and treatment.

The main breast cancer genes are BRCA1 and BRCA2. Scholars involved 523 men with breast cancer, of whom only 20 with BRCA mutations. In this way they focused on the other genes responsible for male mammary tumors. They analyzed 50 genes, all previously studied and largely heritable.

Mutations in the PALB2 gene are the most prevalent among men with breast cancer. Given their clear prevalence, researchers suspect that the gene could play a key role in the disease. The study of only Italian subjects has instead allowed us to better analyze our population genetics. In other countries the prevalent gene of male breast cancer is indeed another.

Usually the predominant gene in men with breast cancer is CHEK2. The mutations of this gene are however almost completely absent in Italy, which raises new questions. The next step will be to understand how the mutations of PALB2 increase the risk of cancer. In this way it will be possible to develop a specific breast screening for men.

Source: repubblica.it