Aurora magazine

The human population is afflicted by a large number of lethal genetic diseases. Professor Carlos Eduardo Guerra Amorim tried to understand the reason. Why did evolution not eliminate all lethal genetic abnormalities?

In the case of recessive illness, one who inherits only one copy of the defective gene remains healthy. For the disease to manifest, you must inherit the copy of the gene from both parents. Many lethal diseases are transmitted in this way and geneticists do not understand why these mutations continue to exist.

In the study in question, the researchers selected 417 mutations in 32 genes. Mutations are recessive and result in lethal genetic diseases, such as cystic fibrosis and Tay-Sachs disease. The researchers compared how often mutations occur and how often disappear by natural selection. Comparing the result with current sick individuals, they found that mutations should be more common than expected

Why does nature leave potentially lethal mutations in human genetic code? Researchers hypothesize that the benefits associated with these mutations are greater than the disadvantages. In addition, it is more common to transmit only one recessive gene than the lethal couple. There are no reliable answers. Understanding the possible motivations, however, would help identify the mutations better and fight them.

Source: medicalxpress.com

The HPV test, or the papilloma virus, could help locate some of the throat cancer. The tumors whose onset is linked to the virus, in fact, could respond to treatments in a different way. The discovery comes from the University of North Carolina.

Usually, HPV connects to the uterine tumor. In some cases, it also causes oropharyngeal cancers, thus affecting the basis of the tongue and the tonsils. Previous studies have shown that positive HPV patients with throat cancer respond better to the treatment. With a genetic test you could locate and choose lighter treatments.

Often to wipe away HPV tumors - less violent than others - it is enough to have the heaviest and less toxic therapies. Phase II of a clinical trial tested de-intensified treatments on patients with HPV cancers, with excellent results. According to the lead author of the study, Gaorav P. Gupta, liquid biopsy would help to figure out who to use this approach.

The researchers developed a test to detect HPV16 DNA in the blood. They tested it on 47 oropharyngeal cancer patients, identifying the virus in most participants. Those with lower levels of viruses suffer from more severe forms of cancer. Conversely, those with higher levels were also more manageable.
The study suggests that patients with low or zero HPV16 levels have a different genetic profile. Researchers are then looking for new genetic markers that help find the most serious cases.

Source: eurekalert.org

The Italian Society of Pediatrics (SIP) has expressed its views on the so-called pre-vaccination tests. Tests that are widely spoken on the internet should include possible adverse reactions from the vaccine. According to SIP, however, the tests in question are useless and expensive. In fact, they are by no means able to identify very few children experiencing adverse reactions.

On the internet there are endless lists of examinations that should be made before the vaccine. They are doses of minerals in the blood, immunoglobulins and vitamins. Some of these even include genetic testing. The whole list, if done in full, involves a considerable expense. The problem is that there is no evidence of its usefulness.

Alberto Villani, President of SIP, explains that there is no scientific evidence that these examinations help to predict any adverse reactions. For example, in the list is the HLA typing, a set of genes that regulate the immune system. Some HLA antigens are widespread among those with autoimmune diseases, it is true. This does not mean that you can expect a reaction to the vaccine by examining them.

What makes testing even more useless is the rarity of adverse reactions to vaccines. We talk about 1 case every 1 million vaccinated, which can not be identified with the current technologies. It is much more likely that the child will take the disease or transmit it to immunodexpressed subjects.

The pediatrician can detect any special clinical situations by means of regular medical history and controls. If the child is in a particular clinical condition, the pediatrician himself will contravene the administration of vaccines.

Source: corriere.it

An Indian study showed that excess fat reduces sperm quality. The more the fat mass increases, the more the sperm decreases. To reverse the process and increase the chances of conceiving, just lose weight.

The research involved 1,200 men. The researchers analyzed the quality of their sperm by comparing them with weight. It has thus emerged that overweight men produce less sperm with a lower concentration of sperm. Weight also affects sperm motility, which is compromised by excess fat. In the most extreme situations, quality goes so far as to make the conception difficult, if not impossible.

The link between female weight and the ability to conceive was already known. Now it is also known that male obesity has its share in a possible infertility of couple. Discovery could explain why male fertility is declining in western countries, along with an increase in the youth obesity rate.

The message from the study is clear: too fat foods, alcohol, sedentary mine to the possibility of having children. On the other hand, the problem can be resolved in relatively short time, gaining more healthy habits. Just return to the weight form to increase the amount of sperm and their motility.

Source: healthdesk.it