Aurora magazine

The research Anmar we care, the quality of care from the point of view of the patient and his rheumatologist reveals information on those suffering from rheumatic diseases. 364 questionnaires filled out by rheumatic patients and 182 by doctors, to take a picture of the conditions of those living with these diseases.

74% of those affected defined their quality of life poor, while 46% had problems with taking treatment. In addition, more than 80% of respondents reported anxiety and depression problems caused by chronic pain. Yet there is hope: the better the relationship with the medical staff, the higher the quality of life of the patient.

According to the study, patients who have a good relationship with the doctor follow the therapies better. And those who follow the therapies better have more chances of living an almost normal life. In case of early diagnosis, in fact, many patients can hope for so-called clinical remission. This provides for the attenuation of symptoms, if not their complete disappearance. If protracted over time, it is even comparable to a cure. However, such an objective is possible only with: early diagnosis; adequate therapies; harmony between rheumatologist and patient in the care strategy.

The fight against rheumatic diseases also goes through prevention. Numerous studies have shown that a healthy lifestyle helps combat the onset of rheumatoid arthritis and other systemic autoimmune diseases. In particular, it is important that people predisposed genetically prefer a diet low in protein and fat. Instead, vitamins, fibers and moderate physical activity are promoted.

Source: corriere.it

One study analyzed the impact of genetic counseling against ovarian cancer in Malaysia. According to the first results, minimal genetic training is enough to reassure patients and help them in their choice. Not only medical geneticists, so: for a first consultation, it would be enough for normal doctors to update themselves on these new themes.

The BRCA genetic test is used to identify possible mutations in the BRCA1 and BRCA2 genes. Depending on their presence or not, you can assess the risk of developing breast or ovarian cancer in the future. It is also essential in case of cancer, to identify the best therapies. Usually the test is prescribed to women with suspected familiarity, for preventive purposes. However, it is estimated that 4 out of 10 carriers do not have ovarian or breast cancer in the family.

The MaGiC study analyzed the prevalence of BRCA mutations among patients with ovarian cancer. It also determined the feasibility of a greater extension of genetic testing in Malaysia, including through better training of physicians. In fact, to date, genetic counseling is only available in the major cities of Malaysia.
Over the course of two years, researchers have organized small seminars on basic genetic counseling. In this way they gave a basic training to 70 doctors from 29 Malaysian hospitals. Later, these doctors followed more than 800 women with ovarian cancer. They informed her about the genetic test and recommended it once the results arrived.

Of the 800 patients, 248 participated in the study, of which 208 underwent the genetic test. 13% of them (27) showed that they had a BRCA mutation, which allowed them to develop an ad hoc route for them. Furthermore, being followed with competence and dedication has improved the psychological impact of the test on patients.

Cancer and prevention strategies are still taboo subjects in Malaysia. According to the author of the study, expanding the knowledge of genetic testing could do a lot in this regard. It would allow reaching those who do not live in large cities and would facilitate the development of personalized therapies.

Source: medicalxpress.com

A study led by Professor Stuart Lipton is testing the effectiveness of a new drug against autism, NitroSynapsin. For the time being, the team is running tests on animal models, but the first results seem to be promising. The drug corrected a good part of the brain and behavioral abnormalities of the mice, with positive consequences on the typical symptoms of the autistic spectrum.

The new study is rooted in a 1993 study. Lipton and his Harvard team identified a gene involved in brain development, MEF2C. They later discovered that guinea pigs with an abnormal version of MEF2C showed symptoms similar to those of autism. This led to the identification of a similar genetic abnormality in human children affected by some forms of autism.

The MEF2C gene encodes a protein that acts as a transcription factor and is more or less directly involved in many forms of autism. Restoring gene functions should therefore have a positive effect on the disease. The drug NitroSynapsin serves to balance inhibitory signaling factors and an exciting inside the brain, abnormal in those suffering from some forms of autism.

The researchers gave the drug to guinea pigs for three months. Mice responded well to treatment. In many of them he reduced abnormal behaviors and improved cognitive and behavioral functions. In some cases, the guinea pigs are almost back to normal levels. The next step is to check on what forms of autism NitroSynapsin is effective what the effects on the human being are.

Source: scripps.edu

Researchers at the University of Wisconsin-Madison took a new step forward in the fight against Friedreich's ataxia. They used a molecule designed specifically to overcome an obstacle caused by a genetic defect. In vitro and on animal models, the procedure has given excellent results. This ignites the hope of finding an effective treatment against this rare and fatal genetic disease.

Friedreich's ataxia, like other 40 genetic diseases, is caused by repeated strings of DNA. This prevents the proper formation of proteins, due to cellular blocks that jam the mechanism. To solve the problem, the researchers have developed a kind of molecular prosthesis to restart the cellular mechanism. A component of the prosthesis identifies the repetition, the second helps the cell to bypass it.

For the time being, the researchers have tested the procedure in two types of tests.

In the first test, the scientists used the cell lines of 20 patients with Friedreich's ataxia. Applied in vitro, the molecular prosthesis has helped cells restore the correct gene expression. In this way they also resumed producing the missing protein.

In the second test, they used the prosthesis on guinea pigs. Also in this case, the procedure re-established the mechanism of protein production.

Despite the excellent results, we will have to wait for many more years before we get to human tests. The same team had indeed registered a first success in 2004, but ended with nothing done. The molecule used as a prosthesis was in fact attracted by other areas of DNA similar to the one in question. With the new study, researchers seem to have solved the problem of 2004, but further tests will still be needed.

Source: wisc.edu