Aurora magazine

A team of Indian researchers has developed a neonatal test to measure the risk of adrenoleukodystrophy. The study was published in the journal Clinica Chimica Acta and explains how the procedure works. Adrenoleukodystrophy is a genetic disease caused by mutations in the ABCD1 gene.

The malfunction causes the accumulation of fat molecules known as "very long chain fatty acids". Accumulations destroy myelin, the substance that protects nerve cells, and damages the adrenal glands.

The diagnosis of adrenoleukodystrophy starts from the observation of symptoms. After that, we proceed with a blood test that determines the levels of fatty acids and the severity of the disease. Usually the tests identify the C26: 0, C24: 0 and C22: 0 fatty acids. Furthermore, one can also look for molecules called LPCs, which are formed due to accumulations. Both methods are too slow for widespread screening.

A team of researchers from the National Institute of Mental Health and Neurosciences in Bengaluru has created a new neonatal test. The new screening method is faster and more efficient, completely non-invasive. Just a few drops of dried blood are enough to tell whether the child is at risk or not. To confirm its reliability, the researchers tested the test on 28 samples of sick children and 282 of healthy people.

They also compared the results with those obtained from previous tests. The method has proved effective and reliable. The authors of the study hope that the test will therefore be used on all high-risk infants to ensure early diagnosis.

Source: adrenoleukodystrophynews.com

Bisphenol A is a substance known for its negative effects on the endocrine system. Scientists suspect it may reduce sperm count in men, making it more difficult to have children.

A study by the Icahn School of Medicine and Karlstad University casts a new shadow on the substance. Scientists measured the levels of 26 chemicals in the urine of 718 future mothers during the first trimester of pregnancy. Among the substances there was also bisphenol A, contained in the plastic used for plastic packaging.

However, researchers have also found pesticides and phthalates, all of which are harmful to health. Some of these damage the activity of hormones, just like bisphenol. After giving birth, the researchers followed the children up to the age of 7. Children with lower IQ were those whose mothers had higher levels of chemicals in their urine. In the case of males, the results could even drop by 2 points from the average. Exposure to certain substances could therefore damage fetal development.

What's worse is that even minimal exposure could be enough. In addition to bisphenol A, the most harmful substances could be some types of pesticides and detergent components. These latter substances are almost immediately expelled from the body, yet a minimum time would be enough to damage the embryonic development. As a result, women in early pregnancy should avoid contact with the offending chemicals as much as possible.

Source: mountsinai.org

During the annual conference of the European Society of Medical Oncology (ESMO), a new therapeutic approach to cancer was discussed. In the near future, genetic mutations may be more important than the organs affected by the disease. In fact, studies on "agnostic" drugs are being expanded, designed to target a certain genetic anomaly rather than a certain type of tumor.

A single genetic mutation can cause different types of cancer. Just think of the BRCA genes, responsible for both breast and ovarian cancer. The agnostic drugs act precisely on the basis of these genetic mutations, regardless of which organ is involved. If they spread, they will radically change the way we approach cancer treatments.

In September 2019, the European Commission approved one of the first agnostic drugs. It is called Larotrectinib and acts against mutations in the gene that codes for the neurotrophic tyrosine kinase receptor (NTRK). It has proved effective especially in the most advanced cases, in which there are metastases and it cannot be operated. The drug is taken in tablets, has few side effects and has given results against 29 types of cancer.

There are other agnostic drugs being approved or already approved. They are all designed to act in the presence of a specific mutation, regardless of the organ concerned. In this way the therapy is more personalized, however counterintuitive it may seem. Furthermore, it is also possible to act against rare tumors for which there are no specific therapies.

Source: corriere.it

Pregnancy can be one of the most strenuous experiences in a woman's life. Modifies the body in a radical way, changes its balance and sometimes forces it to change its lifestyle.

A study by Northwestern University suggests that it could even stimulate aging. Researchers have focused on telomeres, which are the filaments of genetic material that correspond to the person's age. In fact, every time a cell divides, the filaments get shorter. This means that the more duplications there are, the shorter the telomeres are and the more years have passed. Not only: when they are completely consumed, the cell dies and can no longer duplicate itself.

Many studies prove that smoking, stress and poor diet shorten telomeres. As a result, they shorten cell life and the life of the person in general. The authors of the study then wondered if the pregnancy could have similar consequences. To prove it, they involved 800 Filipino women of about 20 years. The researchers analyzed the telomeres of women and crossed the data with those concerning pregnancies.

The women who had more gestations were biologically older. Nevertheless, during pregnancy the women had a more "youthful" epigenetic profile. How is it possible? According to Dr. Calen Ryan, one of the authors of the study, it may be that the temporary "rejuvenation" is due to the child. As long as the woman is pregnant, the baby's cells and blood contaminate her body and distort the results. To test this, further analysis and studies will be needed.

Source: medicaldaily.com