Aurora magazine

Noonan syndrome is a genetic disease with an incidence of 1 case per 1000-2500 newborns. It includes a wide variety of clinical manifestations, but the most common are congenital heart disease. In addition to these, which affect almost 70% of patients, other symptoms are:

• short;
• lowering of the eyelids;
• spaced eyes;
• big ears;
• chest malformation;
• cognitive deficits;
• lack of descent of the testes in the scrotum.

Diagnosis takes place starting from the observation of the above symptoms. An analysis of family history follows, with the confirmation of a genetic investigation. Although some of the genes involved are known, in some cases the genetic cause remains unknown. Furthermore, the clinical variability of the disease makes the diagnosis much more difficult. Nevertheless, if there are family cases, prenatal diagnosis can be used.

Noolan syndrome is a hereditary and sporadic genetic disease. In the first case, transmission occurs in an autosomal dominant manner: to develop the disease, a copy of the altered gene is sufficient. In 50% of cases, the affected gene is PTPN11; in all other cases, mutations affect the KRAS, NRAS, RAF1, BRAF and SOS1 genes. However, only 75% of patients show identifiable and clear genetic variants.

For the moment there is no resolution therapy for Noolan syndrome. Several studies are underway on drugs that could inhibit the activity of mutated enzymes. Cardiac lesions are treatable with surgery and in some cases hormone therapy is recommended. If followed appropriately, children can reach adulthood without problems.

Source: telethon.it

The decline in fertility and true infertility is an increasingly common problem in the world. More and more studies prove that much of the blame lies with lifestyle. Smoking, a sedentary lifestyle, lack of sleep and unhealthy eating reduce the rate of fertility. Part of the infertility cases could however also be linked to bisphenol A (BPA), a substance contained in most of the plastic containers.

BPA is a molecule used for the synthesis of some plastics, such as those used for water bottles. With the increase in urbanization, plastic containers have also increased. As a result, we are increasingly in contact with the bisphenol A content of food and soap packaging. The problem is that it seems that this molecule has serious consequences on fertility, especially on the male one.

A good number of studies suggest that BPA reduces sperm motility, thus affecting fertility. Approximately 15% of the increase in male infertility is thought to be related to high BPA levels. This, together with the consumption of more and more foods rich in fats and oxidants, could explain at least a slice of the cases of infertility. The phenomenon is evident above all in the big cities like Bangalore, in India.

Bancalore suffers from a veritable epidemic of male and female infertility. In the last 10 years, cases of infertility have increased by about 30%, many of them without apparent reason. In parallel, there has been an increase in the use of plastic packaging and bottles, especially in the food sector. It seems strange that the two phenomena are not in any way related. This is why more and more doctors are pointing at bisphenol A, also in the light of various international studies.

Bisphenol A would act similarly to estrogen, affecting the endocrine system. This could translate into less sperm motility and ovulation problems. To have certain answers, however, further studies will be needed.

Source: deccanherald.com

Between 2006 and 2016, prenatal screening tests in Japan increased 2.4 times. The researchers from the National Center for Child Health and Development reveal this. If in 2006 prenatal tests were about 29,300, in 2016 they exceeded 70,000: they more than doubled. Almost a quarter of these were made by women aged 35 or over.

In fact, there are no official data regarding the exact number of prenatal screening and diagnosis conducted in Japan. The researchers relied above all on the data provided by the structures that deal with blood and other analyzes. Starting from these, they obtained the estimated total number of invasive and non-invasive prenatal screening tests. Despite the obvious approximation, the discovery shows however how prenatal screening tests are taking place all over the world.

Analyzing the data of the facilities and the questionnaires conducted, in 2006 only 2.7% of the mothers had the tests performed. The percentage rose to 15.2% among future mothers over 35 years. In 2016, the two percentages rose respectively to 7.2% and 25.1%. Above all, fetal DNA tests increased, rising from 17,500 in 2006 to 35,900 in 2016.

The increase in fetal DNA testing is also due to the Japan Society of Obstetrics and Gynecology, which introduced the test in 2013 in a clinical trial. Only during this time, there were 13,628 tests included in the trial. Although the numbers are already substantial, they could even be greater. In fact, in Japan there are also unauthorized realities that still carry out the tests.

Source: mainichi.jp

A study conducted on 300 blind mice has allowed us to identify new genes related to hereditary blindness. In fact, the guinea pigs have in common hundreds of unknown genes, which seem to be linked to the development of sight. Further studies could unravel the genetic causes of some eye diseases, allowing new treatments to be developed. Or at least what Dr. Bret Moore, of UC Davis Veterinary Medical Teaching Hospital, and Professor Ala Moshiri of the University of California are hoping for.

The study conducted by the Moshiri and Moore team is part of the UC Davis' Mouse Biology Program, which is part of the International Mouse Phenotyping Consortium. The consortium aims to identify a function for each gene in the mouse genome, so as to facilitate the research of human diseases. Researchers have found genes related to all functions of the body, from breathing to the smell of the breath. To date, the consortium has identified over 4,300 functions related to 11 organs.

The data collected by this particular study is proving invaluable to the entire ophthalmic community. The researchers combined the consortium data with those of genes related to visual defects. They identified 347 genes, of which 86 were already known and 261 were still unknown. This could help identify the still many unknown causes of blindness.

At present, the cause of hereditary blindness is only identifiable in 50-75% of cases. In all others, researchers have no idea what genetic variants to look for. Given the discovery made, the researchers would like to analyze the genome of some patients left without a diagnosis. The cause of their blindness could be in one of the identified genes.

Source: medicalxpress.com