Aurora magazine

Hypokalemic periodic paralysis is an inherited genetic disease that causes episodes of muscle weakness. Those suffering from it are affected by temporary episodes of paralysis starting from adolescence. In some cases the attacks occur every day, in others once a year. They usually last a few hours and manifest from adolescence.

Most of the attacks of temporary paralysis hit the shoulders and hips. However, it also affects the arms and legs, the muscles of the eyes and those related to breathing. Attacks sculpt mainly upon awakening and are rare during exercise. Consumption of alcohol and carbohydrate foods seems to be a triggering factor.

Subjects suffering from periodic hypokalaemic paralysis do not show any symptoms between attacks. Some of them complain of stiff legs just before paralysis, but there are no other signs. During the attack, however, potassium levels collapse, muscle reflexes diminish or disappear. Electrocardiogram and electromyogram abnormalities are also visible. In some cases, the anomalies result in cardiac arrhythmias.

For the moment there is no effective treatment in 100% of cases. Taking potassium does not prevent episodes of paralysis, although administering it during the course can block an attack. Doctors recommend avoiding alcohol and cutting carbohydrate consumption, thus reducing triggering factors. Acetazolamide has proven effective in prevention, although it does not always work and reduces potassium levels. Alternatively, triamterene or spironolactone can be taken.

Source: medicinalive.com

A team from the Italian Institute of Technology (IIT) and the University of Pisa has identified new mutations linked to autism. In particular, researchers have discovered variants that alter the structure of the brain and affect its functions. The merit was an innovative strategy that will help to understand how many forms of autism exist. In this way it will be easier to create new treatments tailored to the individual shapes.

Researchers developed 3D brain models of 30 children with autism spectrum disorders. The children were all carriers of the same genetic mutation, the deletion 16p11.2. The analyzes have revealed that their prefrontal cortex is isolated from the rest of the brain. The inability to communicate between bark and brain causes the specific symptoms of autism. Children are little interested in social relationships and struggle to communicate.

In parallel, the researchers conducted a similar study on animal models carrying the same genetic mutation. The guinea pigs showed the same lack of communication with the prefrontal cortex. Furthermore, analysis of animal models allowed us to examine neuronal connections with a very high level of detail. This has revealed what are the structural anomalies typical of the deletion 16p11.2. These could be the basis of brain connectivity defects related to autism.

The results of the present study have shed light on many details related to autism. Now scientists are studying other genetic mutations related to autism, so as to understand its repercussions on the brain structure.

Source: ansa.it

A study published in the journal Frontiers in Genetics exposes a new technique for predicting fragile X syndrome. This is a genetic test that identifies the presence of a specific type of genetic mutation. In this way he predicts the risk that a woman has a child with the disease.

Fragile X syndrome is linked to the expansion of CGG nuclei in the FMR1 gene. One patient with the syndrome shows more than 200 repetitions of CGG, compared with 30 averages. Sometimes the person has between 55 and 200 repetitions and shows milder disorders.

Women with this "premutation" have a high risk of having a child suffering from fragile X syndrome. The presence of repeats of the AGG nuclei reduces the risk, but remains present. A woman with 75 repetitions of CGG and two of AGG has 12% chance of transmitting the disease. The odds rise to 77% without AGG's double. Taking into account these two parameters, it is possible to evaluate the risk of hereditary transmission of the syndrome.

Identifying CGG repetitions is easy, but this does not apply to AGG repetitions. The researchers then developed a new genetic test that identifies AGGs in women with a premature FMR1.

The study involved about 51 women, including 26 carriers of a healthy gene and an intermediate gene, 24 carriers of a premutation. Only 1 woman showed both conditions. 30% of the second group (13 women) showed 60-80 repetitions of CGG. Of these, 3 had no repetition of AGG and were therefore at high risk. Other 2 had more than 85 repetitions of CGG and 1 had 95 repetitions and none of AGG. The latter had 100% chance of transmitting the syndrome.

Source: fragilexnewstoday.com

A team led by Dr. Susanne Pors obtained the first artificial ovaries in the laboratory. If the prototypes prove to be safe and effective, they could solve the problems of female infertility linked to these organs. In particular, they could restore fertility to those undergoing chemotherapy at a young age.

Before chemotherapy, several women freeze ovarian tissues. Once they decide to have children, they re-implant the tissues. The method is rarely used, since there is always the possibility that the tissues contain tumor cells that could reproduce. Dr. Pors's team has developed a method for developing tissues stored outside the body.

The researchers used the tissues of some women to prepare a mold that contained the ovary in the early stages of development. The aim was to stimulate the maturation of frozen follicles in the early stages. In this way it would have been possible to obtain oocytes that can be used for in vitro fertilization, without exposing patients to the risk of relapse.

In an initial phase of the study, the researchers exposed the ovarian tissues to three-day chemical treatments. In this way they eliminated any residual tumor cells, obtaining healthy follicles in the early stages of development. To make them mature, they grafted them in a favorable environment, obtained thanks to the molds mentioned above. They then transplanted the molds into 20 guinea pigs. One quarter of the follicles survived for 3 weeks in mice.

The next step will be to find a way to perform this last operation on the human being. First, however, the safety of the procedure must be proven.

Source: news-medical.net