Aurora magazine

Motor neuron disease is actually a set of pathologies that affects motion neurons. All these diseases are characterized by damage to the motor neurons, which determine the communication between brain and muscles. Information no longer passes and muscle mass is reduced, making movements impossible.

The most famous motor neuron disease is Amyotrophic Lateral Sclerosis (ALS), but the group is heterogeneous. Almost all diseases have a lack of strength in one hand or leg as their first symptom. In some cases, the subject struggles to speak and swallow, as well as to move. Muscle cramps begin to appear, especially at night, and fasciculations. Almost none of the motor neuron diseases cause decay of intellectual functions. Sensitivity also remains intact, as well as urinary functions. However, the evolution of the disease largely depends on the individual patient and the type of pathology.

To date it is impossible to understand in advance how the disease will evolve and what the future degree of motor autonomy will be. The diagnosis of a motor neuron disease involves a neurological examination and instrumental tests. These include a nuclear magnetic resonance, which serves to carry out a neuroradiological study of the brain and spinal cord.

This way it is possible to determine if it is ALS or another disease. For the moment there are no resolutive therapies for this type of disease. Current treatments are mainly used to slow down the evolution of the disease.

Source: hsr.it

A team identified a genetic abnormality linked to biliary atresia. This is the first discovery made in this sense and is thanks to an international team led by Dr. Saul J. Karpen. Thanks to this study, it will be possible to seek treatment for the disease. Biliary atresia is the leading cause of liver transplantation in children.

To date, the causes were completely unknown, which made it impossible to create a resolving therapy. Children suffering from the disease must undergo a difficult surgical procedure, which is not always sufficient. Sometimes the only solution that remains is liver transplantation, with all the associated difficulties.

The disease is very rare: large US hospitals see only a few cases per year. Furthermore, atresia is not hereditary in the usual sense of the word. According to some researchers, the gene is activated only in the presence of certain triggers, such as viruses or toxins. Despite the confusion and lack of resources, the team nevertheless collected data over the course of 15 years of study. Researchers have noted that 10% of atresia cases are related to heterotaxia, another genetic defect.

People who suffer from this condition have all their organs in an inverted position. When presented with biliary atresia, it is called BASM (biliary atresia associated with splenic malformation syndrome). The team then focused on 67 children with this form of atresia.

Thanks to total genome sequencing, mutations have emerged in the PKD1L1 gene. The gene encodes a protein produced in the bile duct cells. It is unlikely to be the cause of all cases of biliary atresia, but it is a fundamental first step to better understand this disease.

Source: whsc.emory.edu

Researchers at American University have developed a genetic test to detect antibiotic resistance. According to the first experiments, the test is as accurate as the in vitro cultures and much faster. It could therefore facilitate the treatment of respiratory infections resistant to the most common antibiotics.

The test is used to determine if the patient is infected with bacteria with the mef (A) gene. The variant makes the bacteria resistant to two of the most common antibiotics: erythromycin and azithromycin. The latter, in particular, is the most prescribed and used in the United States.

The test identifies the gene in about 10 minutes, nothing to do with the hours of a classic in vitro culture. It would therefore be easier to use in daily diagnostic procedures, even by family doctors. A few minutes would be enough to understand if normal treatments do not work because of this resistance.

This new study also highlights an increasingly serious problem in the United States but also in Italy. Bacteria are developing increasing resistance to antibiotics, which makes them more difficult to fight and more dangerous. It is estimated that "super bacteria" infect about 2 million people a year in the United States alone. Of these, about 23,000 die due to untreated infection.

Beyond genetic testing, it is important to develop greater awareness of the use of antibiotics. They should always be used only on medical prescription and in the manner indicated.

Source: american.edu

Not all embryos contain 46 perfect chromosomes. Some have fewer and others have more, which causes a number of genetic abnormalities. About 80% of human embryos present these anomalies, which prevent their implantation and subsequent development. Other embryos, however, present the anomaly only in part of the cells and are called mosaic embryos.

What happens if IVF (in vitro fertilization) only produces embryos of this type? Scientists usually discard mosaic embryos during IVF. However, some couples can only produce these embryos, which causes the cycle to almost fail.

Researchers at the Oregon National Primate Research Center examined the development of mosaic embryos in primates. In particular, they tried to understand if they were able to develop into healthy children. The team identified a relationship between mosaicism, cell fragmentation and exclusion of blastomeres. Blastomers are large cells formed by the division of the fertilized oocyte.

Sometimes they break into smaller pieces, called cell fragments. When this happens, blastomeres collect cells with genetic abnormalities and separate them from the rest of the embryo. As a result, the embryo may respond well to the plant and develop normally.

Source: ohsu.edu