Aurora magazine

Arrhythmogenic right ventricular cardiomyopathy is a disease that affects mainly the right ventricle. It causes the replacement of heart muscle tissue with adipose tissue, with consequent structural abnormalities. It manifested by arrhythmias and worsening dysfunction, ranging from palpitations to syncope. If not treated in time, it causes arrhythmias which can lead to death within minutes.

In 30-50% of cases have a family distribution and is transmitted either by dominant genes recessive. For this reason, the family history items are a fundamental diagnostic criterion. In addition to history, the diagnosis includes ECG graphs, ECG and MRI. To assess the functioning of the ventricle, you may also use an electrophysiological study. This allows you to determine the type of arrhythmia and when it can be tolerated by the body.

Current treatments are used primarily to prevent arrhythmias. The first step is to eliminate the significant physical activity, which could be fatal. That's why in the past the arrhythmogenic right ventricle has claimed many victims among sportsmen. You also need to proceed with a pharmacological therapy with beta-blockers, amiodarone, sotalol. In case of arrhythmias can not be controlled in a traditional manner, it can be useful to proceed with surgical interventions aimed at blocking arrhythmias in the bud. For patients who have already suffered a heart attack, you may also need the implantation of a defibrillator.

Genetic tests are revolutionizing the world of prenatal screening and more. A new genetic test allows identification of the inherited genetic mutations that increase the risk of colon cancer. The new technology is also able to find abnormalities that the earlier ones were missing. The "next generation sequencing" could then identify many more individuals predisposed to colon cancer. More weapon in the fight against cancer, which would allow those at risk to take precautions.

When you have a case of colon cancer in the family, it will appeal to a geneticist to assess the risk of familiarity. According to the history of the family, the number of cancer cases, the age of diagnosis, the specialist recommended a genetic test. In this way the test will reveal if you have genetic mutations that increase the risk of developing cancer.

The classic genetic test is the Sanger sequencing, which allows you to read the sequence of a specific gene. It is a very accurate method, but also expensive and challenging. That's why is giving way to the so-called "next generation sequencing", with which you can examine multiple genes at a time. The new method allows to reduce costs, to cut the time and give a much earlier response. He also revealed genetic abnormalities linked to colon cancer that Sanger sequencing was unable to locate.

Before proceeding with a DNA test, you should consult a specialist. He will direct the person to the path of better screening and also curb unjustified anxiety. However, the value of these new technologies is no doubt. The next-generation sequencing is changing both the fight against cancer is prenatal screening.

Source: health.clevelandclinic.org

The congenital mirror movement disorder is a rare genetic disease that affects 1 in 1 million. Who gets it accompanies every voluntary movement of a body part with an involuntary movement of the other party. If voluntarily raises his right hand, then, he raises involuntarily even that left. Usually the disorder affects only the upper limbs and lasts for a lifetime.

The congenital mirror movement is a hereditary disorder caused in 35% of cases by abnormalities of the DCC and RAD51 genes. Much more rarely, the subject inherits the autosomal recessive form of the disease. This means that the gene is recessive in the parents, who are so healthy carriers, and only manifests itself in the child. For that to happen, it is necessary that the subject inherits the genetic abnormality from both parents.

Although annoying, the disorder of congenital mirror movement does not involve drastic changes in a person's life. It makes it much some simple gestures complex for everyone else, like writing on keyboard or hand. Apart from that, it does not present problems in brain development level.

Sometimes the disorder is associated with agenesis of the corpus callosum syndrome instead very debilitating. Actually consists total or partial absence of the corpus cavernosum, which combines left and right hemisphere. Those who suffer from it have problems in the gestural communication and phonetics, not being able to coordinate the two halves of the body. They also have difficulty understanding facial expressions and very abstract concepts.

Donepezil is a drug approved for the treatment of Alzheimer's, also used for mild cognitive impairment. A search of the UCLA School of Nursing, however, it shows the harmfulness for subjects with the genetic variant BChE-K. A discovery that shows the importance of genetic screening in the definition of the best treatment.

Mild cognitive impairment is a transitional state caused by age, similar to dementia. It has symptoms similar to those of Alzheimer's disease, which is why many doctors prescribe donepezil to treat. A 2005 study supported the treatment, but the Agency for Food and Medicines had never approved. A new analysis of 2005 data seems to agree Agency.

The researchers analyzed the data of 2005, looking for a correlation between genetic variant BChE-K and changes in cognitive function. They measured the cognitive impairment of individuals with two tests for dementia: the Mini-Mental State Examination and the Clinical Dementia Rating. Those with BChE-K treated with donepezil had worsened more than those who had taken the placebo.

The discovery proves the importance of genetic testing in order to provide personalized therapy. In the future you may use the prenatal screening test to identify possible future problems, so as to intervene in time and in the best way.

Source: newsroom.ucla.edu