Aurora magazine

HIV infection is not synonymous with Aids. In fact, the disease is only the late consequence of untreated infection. By the time, the infection causes immunodeficiency and reduces the body's ability to respond to pathogens. Long-term condition leads to serious illness and death.

There is no cure for HIV infection today. In case of contagion, the only thing to do is periodic checks. Antiretroviral therapy will slow down the action of the virus, but it must be continued throughout life. If followed correctly, it allows you to live almost normal and not to infect any sexual partners. Unfortunately, many people do not know they are infected and this prevents them from acting promptly against the virus.
If not treated, the virus crosses three phases. The last one is AIDS, the real manifestation of the disease.

1. Infection and latency phase. The virus has been reproducing rapidly since the first weeks and is easily transmitted. It is associated with symptoms similar to those of a normal flu: tiredness, headaches, fever and skin rashes. Symptoms that go unnoticed and not immediately linked to the virus.
After a few weeks of infection, the symptoms disappear due to the action of the immune system. The virus remains latent and this situation can go on for several years. However, it works silently and damages the immune system.

2. First symptoms. The progressive weakening of the immune system makes it incapable of defending the body. There are signs of immunodeficiency such as swollen lymph nodes and night sweats.

3. Aids. Damage to the immune system is now consolidated, so that the body is no longer able to avoid the disease. Aids patients may also experience very serious, if not lethal, illness. The set of some of some of these diseases define the third stage of infection. Among the diseases there are tumors, pneumonia, fungi.

A person with Aids blamed and untreated has a life expectancy ranging from a few months to three years.

Source: aids.ch

A Texas Texan team at the Houston Methodist Research Institute has discovered how to rejuvenate the cells of children with progeria. The new technique could reverse the advancement of the disease, which causes aging and premature death.

Progeria is a rare genetic disorder, of which today there are about 250 people in the world. Subjects are all very young, since they die of old age by the end of adolescence. The key to premature aging affecting subjects seems to be a mutation of the LMNA gene. The variant is almost never inherited and rises spontaneously for unknown causes.

Dr. John Cooke and colleagues studied the cells of children with progeria. The intention was to find a way to slow down aging and allow children to reach adulthood. First they tried to repair the defective gene, but the results were not satisfactory. They then tried with a different approach and focused on telomeres.

Telomers are protein structures located at the extremities of the chromosomes. They have the task of protecting the genome from wear and tearing with age. With every cell division, a piece of telomer is lost. Once the telomeres become too short, the cell dies and stops dividing. Subjects with very short telomers are therefore more at risk of illness and tend to live less.

Scientists have found that cells of children with progeria have very short telomers. They have therefore tried to lengthen telomeres, thus improving the function of these cells and their ability to divide. They have introduced small molecules into the cells to alter their gene expression. In this way, they stimulated them to produce the protein needed to stretch the telomeres.

Within a few days, cells have changed radically. Their life expectancy has lengthened and the functions improved. They began to divide in a more normal way and many of the effects of aging have disappeared. It's still early to talk about a cure for progeria, but discovery could lead to a new therapy within a few years.

Source: medicalnewstoday.com

Under the definition of Niemann Pick disease (NPD) there are actually many metabolism disorders. At the basis of the pathologies there are specific genetic mutations leading to the deficiency of the basic enzymes. The most common typologies are types A, B and C.

Type A and type B Niemann Pick are related to the abnormal behavior of the sphingomyelinase acid (ASM) enzyme. The enzyme is located within cells called lysosomes and is responsible for metabolizing the sphingomyel lipid. If the enzyme is scarce, the lipid accumulates in the cells and causes death. With time the damage accumulates, with a progressive deterioration of the organs and their functions.

The prognosis for type A and type B of Niemann Pick is very different, despite the basic problem being similar. Type A involves predominantly brain and nervous system, leading to death before the age of 4 years. Type B, however, has almost no neurological implications and allows a much longer life. The bigger problem with Niemann Pick type B sufferers is the enlargement of the organs, which in the long run leads to heart problems.

Type C has a different biochemical and genetic base of types A and B. Those suffering from it can not metabolize cholesterol, which accumulates in the liver. It also fails to metabolize other lipids, which are concentrated in the brain. Sometimes the disease occurs in adulthood, although the first neurological symptoms appear mostly between 4 and 10 years.

Congenital myotonic dystrophy is a rare genetic disorder that manifests itself since birth. It causes strong muscular weakness and difficulty breathing, requiring resuscitation at birth. If the newborn survives, the disease leads to delays in psychomotor development and alterations in cognitive development.

It is easy to confuse congenital myotonic dystrophy with other muscular illnesses. Diagnosis requires neurological examination, followed by electromyography and genetic testing. With electromyography, the physician evaluates the muscular electrical activity so as to detect possible myotonic discharges as a symptom of the disease. Subsequently, a genetic test is carried out, which quantifies triplet CTGs in the DMPK gene.

In healthy people, triplets are 5-34. Those with 37-50 triplets are healthy carriers of the disease and can transmit it to their children. Above 50 triplets the disease begins to manifest, with increasingly severe symptoms as repetitions increase. Some subjects even have more than 1000 repetitions.

For the time being, prenatal diagnosis is possible through the biorhythm of corial or amniocentesis. If the test is successful, it is advisable to request the support of a specialized center. This way the doctors can intervene right from the moment of delivery. Medical support is also essential if the mother is suffering from the disease. A weak uterine muscle weakness makes delivery more difficult and exposes the risk of hemorrhage.