Aurora magazine

According to two US studies 1 adult in 5 has genetic mutations linked to a disease. These mutations often do not cause the onset of the disease itself but increase the risk that it will appear. This means that identifying them in time may facilitate the prevention of certain pathologies and perhaps avoid them. That is why scholars promote a widespread use of full DNA sequencing.

The first study was published on The Annals of Internal Medicine. It involved 100 healthy adults who told the family medical history. The researchers then chose 50 of them randomly and subjected them to complete genetic screening. They analyzed about 5 million DNA sequences, placed in 4,600 genes. The screening recommended by the American College of Medical Genetics and Genomics (Acmg) involves the analysis of only 59 disease-related genes.

DNA screening revealed that over 50 people had at least one mutation due to a pathology. It also emerged that all patients in question exhibited at least one recessive mutation linked to a disease. If they had a partner with the same recessive mutation, then their children could manifest the disease. An event to be studied with further tests, which would hardly have emerged with the only history. Of the 50 participants interviewed and enough, only 16% were directed towards more in-depth genetic analysis. This is against 34% of the second group.

The second study has achieved very similar results to that of the first. The Stanford Center for Genomics and Personalized Medicine team analyzed the DNA of 70 healthy adults. Of these, 12 (about 17%) showed genetic mutations linked to a higher risk of pathologies. Again in this case, the researchers went beyond the analysis of the 59 recommended genes. Consequently, standard analyzes may be insufficient to fully effective prevention.

Source: sciencemag.org

Verrucid epidermodysplasia (EV) is a rare hereditary disease. The disease causes chronic skin infection by the human virus papilloma. This leads to the formation of polymorphic skin lesions, such as warts, nodules and small skin pads. These lesions have a high probability of developing into a skin cancer.
The number of patients with verrucal epidermodysplasia is uncertain.

To date, little more than 200 cases are known, but the exact prevalence is unknown. According to scientific literature, illness occurs during childhood and much more rarely in neonatal times. 61.5% of the known cases occurred during the first years of life, 22% during puberty and 7.5% in the first few months of life.

The first symptom is the appearance of vertebral papules, followed by the irregular plaques. The lesions are hyperpigmented or hypopigmented, brown-reddish and similar to the bark of a tree. They appear on all skin areas exposed to the sole, then on the trunk, neck, face and back of hands and feet.
The lesions are derived from the papilloma virus subtypes, which in 30-60% of cases develop into skin cancers. The tumors are different from the most common melanoma and form carcinomas and squamous cells, similar to real tree branches. They are often localized tumors, which rarely form metastases.

To date there is no resolving therapy for verrucid epidermodysplasia. In the few cases detected, cryotherapy and topical use of immunomodulators are performed. It is also important that subjects avoid exposure to the sun as much as possible to reduce the risk of cancer. In the case of highly developed tumors, doctors are surgically eliminated.

Researchers at the Karolinska Institutet have shown how sperm proteins attack the oval barrier. The study reveals how the sperm recognizes the surface of the oval and penetrate it, previously unclear. All this has been documented with 3D images of the fertilization process. This will help to better understand the reproduction mechanics in mammals.

Luca Jovine's team used data from the European Synchrotron Radiation Facility (ESRF), obtained by X-ray crystallography. The researchers thus showed the interaction between sperm and ZP2 proteins. The molecule contains repeated sequences that play a key role in recognizing gametes. Among other things, it is very similar to a protein with similar functions, VERL, which is present in molluscs.

Taking advantage of the similarity between ZP2 and VERL, the researchers used the aliotids as models. They are very simple molluscs, which facilitated the observation of VERL protein at work. Scholars have thus studied how the protein binds to lysine, a protein present in sperm. The process opens a hole in the oval barrier, allowing the sperm to enter.

Source: ki.se

Paracetamol in pregnancy interferes with the development of the fetus. In particular, the drug would have negative consequences on male sexual behavior. It is the discovery of the team of David Møbjerg Kristensen of the University of Copenhagen. For the time being, the studies have been limited to the observation of animal models, but they still raise an important problem.

Paracetamol is one of the most used painkillers and doctors consider it safe for pregnant women as well. The study in question and the previous ones, always conducted on animal models, raise a question about it. Other studies have shown that fetal exposure to the drug may alter testosterone production. This study analyzes possible changes in sexual behavior.

The researchers administered paracetamol to pregnant guinea pigs. The dosages used were equivalent to those recommended for human puerperers. They then followed the male males from birth to adulthood. Cavities exposed to paracetamol in the fetal phase were found to be incapable of clumping like the other. According to the study, the drug has interfered with the development of male characteristics, with adulthood in adulthood.

he reasons for abnormal sexual behavior may be low in testosterone levels. Testosterone plays a key role in male sexual development. Mice exposed to paracetamol had less testosterone, were less aggressive and less active on the sexual level. In addition, the cerebral area that controls the sex drive was smaller.

Discovery could change the guidelines for taking the drug in pregnancy. According to the authors, paracetamol should be taken only in extreme cases.

Source: quotidianosanita.it