Aurora magazine

Fatal familial insomnia is a genetic neurodegenerative disease described for the first time in 1986. As the name implies, it is always fatal and has a course that fluctuates between a few months and 2 years. Usually the first symptoms appear between 37 and 61 years, although there are cases even under 30 years. A more precise estimate is complicated, since today there are only 57 cases confirmed in 27 families in the world.

It is a prion disease, caused by proteins with an irreversibly altered structure, prions. These are found mainly in the plasma membrane of the brain and their function is unclear. The anomaly of fatal familial insomnia causes an accumulation of prions in the brain tissue. As the accumulation increases, the diseased cells also infect the others and kill the neurons.

The first symptom is insomnia, not even negotiable with barbiturates. Prions accumulate in the thalamus, the area of ​​the brain that regulates the sleep-wake cycle, and prevent sleep. The symptoms are not treatable and worsen within a few months, also causing hallucinations and delirium. Neurological damage causes abnormal movements and involuntary jerking, as well as dementia and a progressive inability to walk. Toward the end of the course, the patient is completely unable to sleep.

The anomaly is caused by a mutation of the PRNP gene and is autosomal dominant. So just a single copy of the gene is enough for the disease to manifest. Genetic tests are used to confirm the diagnosis, usually done by clinical analysis and FDG-PET scan. If the diagnosis is confirmed, prenatal testing is also available for those at risk.

Source: osservatoriomalattierare.it

A British and Australian study has unveiled a genetic link between obesity and depression. According to the team, people predisposed genetically to obesity would be more at risk of depressive syndromes. The excessive weight would in fact cause a strong psychological distress, which in some cases also leads to depression.

The link between obesity and depression was already known. But the experts were discussing which of the two disorders is the cause of the other. Is depression causing unhealthy relationships with food or vice versa? To solve this question, an international team analyzed the medical records and DNA of over 500 thousand people.

The scientists examined 73 genetic variants linked to a high body mass index, diabetes and heart disease. To these have added 14 other variants, linked only to obesity and not to other diseases. They then examined the link between genetic variants, health conditions and mental health. The first 73 genetic variants appear to have a biological and psychological link with depression. The other 14 instead have a psychological connection only.

With 4.7 points of body mass index plus there is 18% more chance of developing depression. In the case of women, the percentage rises to 23%. There is therefore a link between genetic predisposition to obesity and depression. Scholars can not say how much this link is psychological in nature and how much of a physiological nature. It seems clear, however, that losing weight also improves mental health, at least in some individuals.

Source: tg24.sky.it

A clinical study by the University of Leicester has tested the usefulness of genetic testing of cancer treatment. As it turns out, the tests help to decide at what time it is better to perform radiotherapy. The choice of the time of day can indeed help to better withstand the toxicity of the treatment. This way you can reduce the negative effects and increase the chances of success.

The genetic test analyzes the genes that regulate the circadian cycle, that is, in our internal clock. By identifying the variations in these genes, it is possible to understand whether it is better to carry out the treatment in the morning or in the evening. The researchers applied this principle to the treatment of 879 patients with breast cancer.

The variations of the PER3 and NOCT genes are linked to lower resistance in the morning. These patients, if treated in the early hours of the day, are exposed to the risk of short and long-term side effects. This happens because their cells tend to divide earlier in the day. During this phase, the cells are more vulnerable and it is easier for radiation therapy to damage them.

The test is a new piece in the creation of increasingly personalized treatments. A simple genetic test could be enough to decide which is the best time for radiotherapy. This would be enough to save suffering to many sick people. To date, in fact, there are thousands of patients who suffer from the side effects of the treatment, especially on the skin. These include burns, reddened areas and changes in skin color.

Source: medicalxpress.com

New mothers should wait at least a year before a new pregnancy. This is revealed by a study led by Dr. Wendy Norman. The guidelines of the World Health Organization recommend an expectation of even 24 months. According to the team of scientists, however, it would not be necessary to wait long; great news for the most adult mothers.

Staying pregnant immediately after pregnancy increases the risk of premature birth, low birth weight, maternal mortality. This is why it would be better to wait a little while before trying conception again. The ideal waiting time would be 12-18 months, at least according to the team of Dr. Norman. This time frame would be good for both younger and younger mothers, who may have had their first child after age 35.

If conceived 6 months after the first child, the new mothers after the age of 35 have a 1.2% risk of mortality. Waiting for 18 months, the risk drops to 0.5%. In the case of younger women, on the other hand, there is an 8.5% risk of premature birth if they become pregnant at 6 months after the first pregnancy. The risk drops to 3.7% waiting.

The study gives clear indications on the waiting time between gestation and the other, especially useful nowadays. In fact, it is frequent that older women prefer to shorten the time between pregnancies. In the case of younger women, however, very close pregnancies are often the result of poor contraception.

To reduce the risks for mothers and children, doctors recommend using adequate contraception after delivery.

Source: bbc.com