Aurora magazine

Cornell University scientists have developed a method to gather only the strongest spermatozoa. The technique promises to accelerate in vitro fertilization (IVF) and increase the chances of success.

There are already techniques to recognize and separate the most vigorous spermatozoa. Unfortunately, they require hours and are not always effective, with negative consequences on the final outcome. For this reason, researchers have developed an alternative technique that increases the likelihood of success of IVF. The main instrument is a microfluid, which groups the spermatozoa in a very short time and with minimal effort.

An indication of the sperm motility level is their ability to swim against the current. The authors of the study then developed a microfluid in which to make the sperms swim. They added a microscopic C-shaped enclosure and used it to group the best swimmers. The new process takes about 5 minutes, compared to the hours of the traditional process. It is also almost entirely passive and requires minimal commitment, giving excellent results.

The technique is born for human medicine and promises to greatly facilitate the techniques of assisted reproduction. In fact, selecting the best sperm is essential for optimizing the processes. Like many other things, however, it could also find an application in the veterinary field.

Source: cornell.edu

ADA-SCID is a rare genetic disease that affects the immune system. It is estimated that about 350 sick children are born every year around the world. Those who suffer are unable to defend themselves from infections, even the most harmless ones.

The disease manifests itself already in the first months of life through recurrent and aggressive infections. The children experience a sudden slowing of growth and skeletal anomalies. They often get sick and need mild infections to cause serious complications, including deafness and neurological changes. If left untreated, the disease is fatal within the first few months of life.

The ADA-SCID is caused by an abnormality of the ADA gene, which encodes the enzyme adenosine deaminase (ADA). The enzyme plays a decisive role in the maturation of lymphocytes, the cells that defend the body against infections. In order for the disease to manifest itself, the child must have inherited the diseased gene from both parents. At each pregnancy, a pair of healthy carriers have a 25% chance of generating a sick child.

If there are any reported cases of ADA-SCID in the family, prenatal diagnosis can be made. Otherwise, the diagnosis is made by clinical observation and laboratory tests.

Until a few years ago, children with ADA-SCID were forced to live in isolated rooms. The only hope was bone marrow transplantation, with all the limitations related to it. Alternatively, there is a replacement therapy based on ADA enzyme of bovine origin and not always effective. Fortunately, research is making great strides with gene therapy, available as of 2016.

Source: telethon.it

The team of Professor Federico Forneris of the University of Pavia has unveiled the molecular structure of the LH3 enzyme. The enzyme regulates the maturation of collagen, the protein that supports cells and tissues. A possible malfunction is related to rare genetic diseases and causes the formation of metastases in the case of a tumor.

The researchers reported for the first time the 3D molecular structure of LH3. To do this they used X-ray crystallography. This has allowed us to obtain many new details on the functioning of the enzyme. In particular, it has given a boost to research on genetic diseases of collagen.

The enzyme LH3 has an atypical molecular structure: two copies of the enzyme work simultaneously, forming an elongated geometry. That's why until yesterday there was little information on LH3. A 3D model was needed to understand its exact functioning. In addition, the researchers found that the enzyme performs more enzymatic activities, which is very rare.

The genetic abnormalities related to LH3 are the basis of serious genetic diseases of bone and connective tissues. Among these are osteogenesis imperfecta, Elhers-Danlos syndrome and Bruck's syndrome. Furthermore, the malfunction of LH3 facilitates the metastasis of different types of cancer. In fact, the enzyme creates collagen pathways around the tumor cells, stimulating their migration.

The Pavia team will use the strategies used for the LH3 study on other enzymes. The goal is to find the genetic and molecular causes that cause the formation of metastases. The hope is to be able to develop drugs that prevent the metastasis of solid tumors.

Source: lescienze.it

The United States Preventive Services Task Force (USPSTF) recommends that all women perform prenatal tests for syphilis. The number of infections in the United States has in fact doubled between 2012 and 2016. The disease is therefore a real danger, which risks involving adults and even newborns. The proof lies in the increase in cases of congenital syphilis.

Syphilis is a sexually transmitted disease, but it is possible that the mother will infect the fetus during childbirth. In this case we talk about congenital syphilis, a condition linked to neonatal death. In 2012, 8.4 cases were recorded for every 100,000 newborns. In 2016, the number rose to 15.7 cases per 100,000 new births.

The number that is more scary is another, though. A 2014 study reported that 20% of pregnant women with syphilis had not received any prenatal treatment. Among those who had been diagnosed, 30% had received inadequate treatment. In addition, 43% had not received any specific treatment for syphilis, despite general prenatal care.

In view of the data collected, the USPSTF recommends repeated screening throughout the gestation. Only one screening in the first trimester may be insufficient, especially in the case of high-risk individuals. The Task Force recommends pushing the test especially among women with drug stories and sexually transmitted diseases. In the case of the United States, therefore, it would be good for health insurances to include screening against syphilis among the services offered.

Source: medscape.com