Aurora magazine

Thanks to a study by the University of Tokyo, a group of families has finally received a diagnosis. Their diseases are not caused by genetic mutations, but by the repetition of a small segment of DNA. According to the researchers, this problem could be the cause of other diseases now impossible to diagnose with genetic tests. Diseases such as Parkinson's are caused by mutations located in multiple genes.

The same applies to cystic fibrosis, for which over 1,000 mutations have been identified. In this case, however, the mutation is always the same in all four diseases and is repeated in different areas of the genome. This means that the same treatments could be effective for all diseases, even if to a different extent.

The study focused on adult patients with different forms of neurodegenerative disorder. Among the symptoms most often encountered are cognitive disorders, uncontrolled movements, loss of balance, weakness in the legs and arms. All of these are related to the syndrome of weak X, usually caused by the repetition of three letters of the genetic code in the X chromosomes. Yet the patients involved in the study did not suffer from weak X syndrome. What, then? The analyzed patients had normal X chromosomes, although they exhibited these symptoms.

The researchers then searched for repetitions in the other 46 chromosomes. To speed up the process, they combined modern sequencing techniques with software that looked only for the three offending letters.

Source: u-tokyo.ac.jp

New evidence supports the need to test all pregnant women for hepatitis B, so as not to infect newborns. According to a study by the University of Stanford, which analyzed the possible benefits of generalizing the practice. Children become ill with hepatitis B especially at the time of delivery.

The disease becomes chronic, evolves into cirrhosis or carcinoma. To avoid this, it would be enough to know in advance if the mother is ill. In this way it would be possible to reduce the risk of infection during childbirth. The US doctors had advised extending the practice to all in 1996. They repeated the recommendation in 2009, supporting it with the studies of Dr. Jillian Henderson. This new recommendation confirms the above, but is based on more recent analyzes.

The authors started from a 2012 study and a 2014 study, both focusing on prenatal screening programs. The purpose of the analysis was to verify the effective utility of a systematic serological test against hepatitis B. These confirmed the accuracy of the current tests and the efficacy in preventing the perinatal transmission of the disease. Furthermore, new studies show that there are benefits for future mothers too.

Recent studies have shown that antiviral treatments in pregnancy reduce or eliminate fetal infections. The possible side effects for mom and baby are minimal, so there are no contraindications. Unfortunately, only 84% of US women do the necessary checks. The remaining percentage exposes itself and the child to a series of problems that could be avoided with little.

Source: medpagetoday.com

Thanks to the growing popularity of smartphones, many applications have been created to monitor the menstrual cycle. In theory, they should help identify any irregularities in the cycle, delays and fertile periods. But a question arises: are these apps really reliable? This is what Dr. Laura Symul has asked herself. Fertility recognition methods are used to identify fertile days within the menstrual cycle. Some couples use them to facilitate conception, while others use it as a contraceptive method.

The most famous is the Ogino-Knaus, but there are many types, including the apps in question. Dr. Symul worked with Stanford University to analyze the effectiveness of two fertility applications. The doctor analyzed data from 200,000 app users. The two applications analyze fluids and body temperature upon awakening, combining them with other biological data. Based on this, they say whether it is a fertile day or not.

The team observed over 2.7 million menstrual cycles, over 30 million days. The average user was found to be European or American, over 30, normal weight. According to the collected data, the follicular period could be shorter than previously reported. Only 24% of the ovulations recorded by the app takes place between the 14th and the 15th day. The luteal phase, on the other hand, would be roughly the one measured previously.

Dr. Symul believes the data is useful for users and doctors, but not 100% reliable.

Source: epfl.ch/index.en

A study by Dr. Elzbieta Kuzma gives hope to those with a family history of dementia. The team followed almost 200,000 people over 60, some of them with genetic variants of dementia. In those with a healthy lifestyle, the incidence of the disease has been reduced by 32%.

This means that eating well and exercising can counteract the influence of genes. Exter University researchers followed 197,000 people for 8 years. Each person was classified according to the risk of dementia, starting from a genetic test: high, medium or low.

The researchers then assessed the lifestyle over the years, analyzing nutrition, alcohol consumption and physical activity. At this point they combined the data collected with the number of people suffering from dementia, 1,769 only during follow-up. People with the absolute healthiest lifestyle were those who did not smoke, trained regularly and ate well. Very few of these have developed dementia, regardless of genetic risk. For the same genes, for them the risk of getting sick has been reduced by 32% compared to those who followed an unregulated lifestyle.

The study shows that genes play an important role but much more limited than we tend to believe. People with a genetic predisposition and an unhealthy lifestyle had three times the chance of getting sick, compared to those not predisposed and with a healthy lifestyle. This means that it is possible to balance genes with nutrition and physical activity.

Source: quotidianosanita.it