Bipolar disorder, manic-depressive disorder, bipolar disorder, bipolar depression. They are all the names of a mood disorder that affects about 3% of people. Because of the multiform clinical picture it is difficult to diagnose. It is often associated with other psychiatric disorders, psychotic symptoms, substance abuse and personality disorders.

Most cases of bipolar disorder are not diagnosed. The subject perceives the hypomaniacal and manic phases as normal manifestations of the personality. However, if not diagnosed, it can have serious consequences for private and work life.

Under normal conditions, the brain deals with the regulation of mood. Despite the ups and downs caused by external and hormonal factors, these mechanisms maintain a certain balance of the whole. A balance that is lacking in those suffering from bipolar disorder, causing emotional lability, lunacy, depression followed by manic excitement. This also affects the levels of physical energy, mental efficiency, sleep and appetite.

People suffering from bipolar disorder go from manic to depressive phases even within a few days. In the hypomaniac and manic phase the subject sleeps less, feels more energetic and euphoric. Self-esteem grows and often leads to rash decisions and inappropriate behavior. At this stage too much excitement pushes to open projects without being able to close them. Sometimes the phenomenon degenerates into delirium of omnipotence and also leads to auditory hallucinations.

The depressive phase is characterized by deep and continuous sadness, which lasts for at least 14 days. The subject has the feeling of not loving anything and that life does not make sense. Often those suffering from bipolar disorder are struggling to sleep at this stage. Also for this reason, it feels without energy and always tired. The depressive phase is often longer than the manic phase and can even come after a period of stable mood.

Bipolar disorder of type I is characterized by the presence of at least one manic episode in life. In this case, the presence or absence of other hypomanic or depressive episodes is ignored. Nevertheless, the episodes of mania are very present.

In type II bipolar disorder, there is at least one episode of major depression throughout life. This is accompanied by at least one hypomanic episode.

Source: studicognitivi.it

Charcot-Marie-Tooth disease (CMT) is a disease of the peripheral nervous system. The most characteristic signs are weakness and atrophy of the muscles, as well as reduced sensitivity. Generally the first symptoms start from the feet, to spread upwards. Most cases occur before the age of 20 and there are different forms, which can be more or less disabling.

It is estimated that the disease affects 1 in 2,500 people. To date, over 40 genes related to the disease have been identified, but they are likely to be many more. Most forms can be transmitted in an autosomal dominant manner: an altered copy of the gene is enough to show the disease. In other forms, however, it is necessary to inherit genes altered by both parents. Still others are linked to the X chromosome, for which women are affected by a mild form and men by a more severe form.

The diagnosis of CMT is made by clinical observation, electromyographic examination and nerve biopsy. Genetic analysis, which allows early diagnosis, is also taking on an increasingly important role.

For the time being there are no definitive medical treatments for Charcot-Marie-Tooth disease. There are a number of ongoing clinical trials to evaluate the efficacy of ascorbic acid in the most common forms. Unfortunately, the results are not encouraging. On the other hand, other substances seem much more promising and they are analyzing the effects on animals. Also, in some cases surgery and physiotherapy help.

Source: telethon.it

Researchers at the Quebec Heart and Lung Institute have developed a multigene test that can predict the risk of heart disease. The new test was much more reliable than the previous ones, based on the search for individual genetic defects. We therefore need to add a polygenic risk score to traditional tests, especially for those suffering from coronary heart disease.

Coronary artery dysfunction is the most common form of heart disease. In some cases, a healthy life is enough to reduce the risk of contracting it. Unfortunately, some individuals suffer from a genetic form of hypercholesterolemia, which increases the chances of early heart disease. In these cases, early diagnosis would be essential, which is not always possible. Many patients do not have a single genetic defect, but a series of anomalies that interact with each other.

The authors of the study analyzed the relationship between multiple genetic abnormalities and heart disease. The polygenic risk score predicted a high risk of heart disease in 1 in 53 individuals. Combining the result with genetic tests for hypercholesterolemia, the number of early diagnoses could be increased fivefold.

The researchers developed the multigenic test starting from 182 genetic anomalies already linked to coronary artery dysfunction. They then compared the polygenic risk score of cardiac patients and healthy people. None of the patients showed the typical genetic defect of hypercholesterolemia.

Source: eurekalert.org