Aurora magazine

Whatever their cause, progressive kidney diseases always lead to the progressive destruction of their functions. Sometimes they are caused by obesity or hypertension, others are a symptom of a genetic disease. Researchers at the Broad Institute of MIT and Harvard have discovered a new drug to stop this degeneration. The discovery could prevent dialysis for millions of people.

For the moment there are few therapeutic options for those suffering from degenerative diseases of the kidneys. Patients who undergo transplantation often suffer from complications. Many of them have to live with dialysis for years, if not for the rest of their lives. All this has consequences both on the work and on the private life of these people.

Researchers addressed the problem from the biological side of the genetic disease. They identified the genes and proteins involved in kidney degeneration. In particular, they focused on what causes the death of the podocytes, the "filter" cells of the kidneys. When they do not work, proteins begin to pass from blood to urine.

Previous work had identified a protein called Rac1 as the cause of some kidney diseases. The new study reveals that Rac1 activates a protein called TRPC5, which causes the inflow of calcium into podocytes and destroys them. The researchers then developed a drug that blocks the process, based on a molecule called AC1903.

In guinea pigs with progressive kidney disease, AC1903 protected the filter cells and blocked the degeneration. The molecule has also given good results on subjects in advanced stages of the disease, restoring part of the functions. According to the study, the drug would work on both the damage caused by genetic diseases and those from hypertension.

Source: broadinstitute.org

In recent years, scientists are developing increasingly advanced techniques for PMA (Medically Assisted Reproduction). Unless you have recourse to a donor, today it is still necessary for those concerned to be able to produce sperm and ova. In the future, this could change, thanks to the creation of sperm and oocytes in the laboratory.

Last year the Chinese Academy of Sciences Institute of Zoology announced a first step in this direction. Researchers used embryonic stem cells to produce healthy spermatozoa. The result was a litter of healthy, lively babies, conceived through in vitro fertilization.

The experiment showed how to obtain germ cells from embryonic stem cells, thanks to a cocktail of drugs and hormones. A process also applicable to adult pluripotent stem cells, which mimic embryonic stem cells. The experiments conducted on mice have given excellent results. The next step will be the monkeys, before moving on to humans.

A result of this kind was also obtained from Kyushu University researchers, on oocytes however. Scientists have in fact transformed pluripotent stem cells induced into healthy oocytes. Some of these turned out to be fertile, allowing us to conceive a new healthy litter.

Finally, US researchers have developed an artificial uterus, designed especially for premature babies. It is in fact a plastic bag full of a fluid that mimics the amniotic fluid. The fetus is attached to an artificial placenta, which supplies it with oxygen and nutrients. The method would facilitate the development of premature babies and would be much more effective than normal incubators

Perhaps in the future technology will open the doors of motherhood even to women with malformations of this organ. Before seeing such a thing, however, much research will still be needed.

Source: ft.com

With chronic kidney disease we mean the progressive reduction of the capacity of the kidneys to filter waste. It is the progression of acute renal injury. The disease becomes chronic when the kidney does not recover its functions even after treatment.

In general, all diseases that can cause acute renal failure are possible causes, especially if not treated. Most of the time, however, chronic kidney disease is caused by diabetes and hypertension. Both diseases damage the renal vessels, causing the progressive degeneration of tissues.

The disease is also linked to obstruction of the urinary tract and to changes in the organ. One example is polycystic kidney disease and glomerulonephritis. It can also be caused by autoimmune diseases such as lupus, in which antibodies attack the blood vessels of the kidneys. Whatever the cause, the consequences of chronic kidney disease have repercussions on the whole organism.

The bad functioning of the kidneys prevents the body from eliminating the acids it produces. This increases the acidity of the blood and causes the accumulation of waste, which can damage the brain. Furthermore, a slowing in the production of red blood cells occurs, resulting in anemia.
For the diagnosis of chronic kidney disease, urinalysis and ultrasound are used. Renal failure causes an increase in the levels of pathological proteins and cells. The ultrasound instead serves to identify any obstructions and to control the size of the kidneys. If these occur small and with scar tissue, then the disease would be chronic.

The treatment includes a modification of the lifestyles, so as to avoid further deterioration. It also resorts to drugs and, in the most advanced cases, to dialysis.

Source: msdmanuals.com

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