Aurora magazine

In 75 years the Pap smear has saved the lives of millions of women around the world. The test consists of a morphological examination of cervical cells, to detect anomalies. This way you can prevent cervical cancer. The test, however, requires an experienced cytologist order to be effective. That's why the arrival of the HPV test is intended to change the world of prevention for millions of women.

The HPV test is virological tests done on cervical cells. Diagnosing the infection with human papillomavirus and, compared to the Pap test detects an increased number of precancerous lesions and in less time. This makes it possible to lengthen the interval between a screening test and the other, from the current three years to 5. If the HPV test individuals abnormality in the cervix, making the Pap test on tissues already taken. If the Pap test is positive, it passes to colposcopy. If not, repeat the HPV test one year later. If the test does not detect anything, it has to do with a share of 80-90% of infections resolve themselves.

The HPV screening tests existed for several years, but is coming to Italy gradually. It is expected a decrease of ten times the annual number of Pap tests. The cytopathology active today will take care of the findings for the women tested positive for the first test. The number of annual colposcopies should remain unchanged, although concentrated on selected women better. Although the test is more expensive than the Pap test, it calculates a 30% saving on organizational costs and 20% of the levies on costs. The credit will be the lesser frequency with which you will have to take the test.

Now it is important to inform women about the changes going on and what to bring. In particular, it is important that anyone who tests positive for HPV testing to understand that it is not synonymous with disease. It is also important to understand that it is possible to contract the virus even through non-comprehensive reports and oral type.

Source: repubblica.it

A team of Italian researchers, South Africans and Canadians has identified one of the genes responsible for arrhythmogenic right ventricular. It is the disease due to the sudden death of many sports, including Renato Curi, Vigor Bovolenta, Piermario Morosini. The gene is the CDH2 and you go to join together with the other seven have already been identified by researchers at the University of Padua.

Arrhythmogenic right ventricular cardiomyopathy is a genetic disease that affects the heart tissue. Adipose and fibrous tissue replaces the heart, favoring tachycardia and ventricular fibrillation. In some cases, it causes loss of consciousness and cardiac arrest. In the absence of an immediate electrical defibrillation, death occurs within minutes. In Italy alone, about 50,000 people die every year, many of them very young. The hereditary cardiomyopathy is indeed a major cause of death in young people under 35 years.

The researchers followed for 20 years a South African family affected by arrhythmogenic right ventricle. Excluding genetic causes known so far, the team has sequenced the genomes of two sick individuals. The researchers started with over 13,000 common genetic variations between the two, scremandole CDH2 up to identify the gene. They then validated the discovery finding this same abnormality in another patient, she belongs to a different family.

The CDH2 gene is responsible for the production of the protein N-Cadherin, which allows the adhesion between the cardiac cells. The anomaly alters the production of the protein, causing a weakening of cardiac tissue and arrhythmias. The researchers had already observed that mice with the mutation tended to suffer from malignant ventricular arrhythmias, often dying suddenly. However, the discovery confirms the role of CDH2 in human disease and facilitates the diagnosis.

The study's findings could save the lives of many people, suffering from cardiomyopathy unknowingly. Genetic tests, if not a day non-invasive prenatal tests, could identify the mutation before it becomes dangerous. Individuals may then begin the preventive strategies needed, avoiding an otherwise almost certain death.

Source: corriere.it

Scientists from the University of Queensland have found a link between a DCC gene mutation, agenesis of the corpus callosum and congenital mirror movement. The discovery has shed new light on the nature of the disorders and their causes. It also opens the door to possible non-invasive prenatal diagnostic tests and the development of new treatments.

The corpus callosum agenesis is a congenital disorder that causes partial or total absence of the corpus callosum. There is talk of the lamina that connects the right and left brain, allowing communication between the two hemispheres. Sometimes the problem occurs together with congenital mirror movement, the other two disorders are presented separately.

Previous research has linked the DCC mutation in humans only to congenital mirror movement. The same mutation in mice, however, had been linked to one agenesis of the corpus callosum. Researchers then thought that the DCC gene had different functions in animals and in people. Scientists from the University of Queensland have analyzed the function of the gene and found that it does not.

The team found that the location of the mutation in the DCC gene is crucial. Depending on where you are located within the gene, only it causes the innate movement of the mirror or in combination with agenesis of the corpus callosum. It is the first genetic mutation on the brain area identified as possible consequences after all mild.

Source: uq.edu.au

It was believed that the cause of baldness in a same gene handful. According to a study by the University of Edinburgh, however, are 287 genes that cause hair loss. They are inherited in large part from the mother and establish the risk of baldness for a man. In the future, you could use this data to create accurate genetic tests that provide for if you lose your hair or not.

Baldness affects about 70% of men and was believed to be linked to only a few genes. This at least until the researchers of Edinburgh have analyzed the DNA of 52,000 men. Riccardo Marioni, one of the authors, says that this is the largest genetic work ever done on the subject. According to the collected data, the problem is rooted in the ratio of 287 genes. Many of these genes are located on chromosome X. The baldness is so ricollegabile especially to the mother's genes and is much more complex than previously thought.

Genetic tests are available in the market for baldness, but we need other studies to obtain reliable forecasts. The research in question, in particular, could give a boost to the process and help to understand the phenomenon. Results were unthinkable a few years ago, made possible by genomic databases and new technologies. DNA sequencing is in fact becoming more quickly and accurately, with benefits for research and prenatal screening.

Source: ansa.it