Aurora magazine

Alpha-1 antitrypsin deficiency is a genetic disorder linked to reduced levels of alpha-1 antitrypsin protein. The protein is synthesized by the liver and serves to inhibit some enzymes that, if present in excess, damage the lung tissues. This compromises respiratory function and causes emphysema to occur.

The severity of the damage and the age of the onset of symptoms may change from subject to subject. It happens that the disease remains silent in people who do not smoke, while it manifests faster in smokers. In some cases, the deficit also affects the liver and causes jaundice. It can even happen in the first days or months of life. However, these infantile manifestations are not always related to those that appear in adulthood.

Alpha-1-antitrypsin deficiency is an autosomal recessive genetic disease. The variant is found in a chromosome 14 gene. In order for the disease to manifest itself, the anomaly from both parents must be inherited. If one of the two parents is affected by the disease or knows that it is a healthy carrier of variants at risk, it is possible to perform a prenatal diagnosis test.

For the time being, therapy for alpha-1-antitrypsin deficiency is mostly symptomatic. Recently, a substitution therapy recommended by doctors has also appeared. This involves the administration of purified human alpha-1-antitrypsin protein. Nonetheless, it is still an experimental therapy and raises some doubts. At the moment there are no rigorous clinical studies that prove its effectiveness.

In patients with severe hepatic impairment, liver transplantation is possible. Following the operation, the disease is treated in a definitive manner.

Source: telethon.it

The term coronary artery disease refers to an alteration in the coronary arteries of the heart. The alteration can have both an anatomical and a functional nature.

The most common is arteriosclerotic coronary artery disease, but inflammatory processes linked to blood scarcity can also occur. Furthermore, the possible causes can be related to both lifestyle and genetic factors.

The heart has three main arteries:

• intraventricular;
• circumflex;
• coronary.

Sometimes fat and cholesterol accumulate on the inner walls of the arteries, forming the so-called plaques. Blood flow slows and the myocardium stops receiving enough blood. The plaques also cause a stiffening of the arterial walls, known as hardening of the arteries or atherosclerosis. Why this happens?

There are intrinsic risk factors in the individual, such as genetic predisposition, age and gender. However, modifiable factors play an essential role, which can determine the appearance or absence of the disease. Tabagism, hypertension, obesity and a sedentary lifestyle interact with genetic factors and increase the risk of coronary artery disease.

It may take several years for the arteries to clog. Symptoms are often minimal and become relevant only when the disease is advanced, if not fatal. The most common symptoms are chest pain, fatigue, arm and abdominal pain. But there are many others that depend on the physicality and lifestyle of the individual person.

The diagnosis is made by an analysis of the clinical picture and medical findings including: electrocardiogram, echocardiogram, stress test, intravascular ultrasound, coronary angiogram.

Source: pharmastar.it

The United States Preventive Services Task Force (USPSTF) recommends that all women perform prenatal tests for syphilis. The number of infections in the United States has in fact doubled between 2012 and 2016. The disease is therefore a real danger, which risks involving adults and even newborns. The proof lies in the increase in cases of congenital syphilis.

Syphilis is a sexually transmitted disease, but it is possible that the mother will infect the fetus during childbirth. In this case we talk about congenital syphilis, a condition linked to neonatal death. In 2012, 8.4 cases were recorded for every 100,000 newborns. In 2016, the number rose to 15.7 cases per 100,000 new births.

The number that is more scary is another, though. A 2014 study reported that 20% of pregnant women with syphilis had not received any prenatal treatment. Among those who had been diagnosed, 30% had received inadequate treatment. In addition, 43% had not received any specific treatment for syphilis, despite general prenatal care.

In view of the data collected, the USPSTF recommends repeated screening throughout the gestation. Only one screening in the first trimester may be insufficient, especially in the case of high-risk individuals. The Task Force recommends pushing the test especially among women with drug stories and sexually transmitted diseases. In the case of the United States, therefore, it would be good for health insurances to include screening against syphilis among the services offered.

Source: medscape.com

The European Commission has authorized the sale of patisiran, the new drug against hereditary amyloidosis from transthyretin (hATTR amyloidosis). The technology behind the drug starts with a Nobel Prize-winning scientific discovery.

Hereditary transthyretin amyloidosis is a disabling and often fatal genetic disease. The cause lies in some mutations of the TTR gene, which causes an abnormal production of transthyretin. This leads to the accumulation of amyloid proteins in organs and tissues, damaging them. Most often this translates into the death of the subject. Unfortunately, the treatment options are limited, which makes the patisiran an even more precious resource.

Patisiran is based on the technique called RNAi interference (RNAi). The new approach focuses on damaged protein rather than on symptoms. In this way the progression of the disease is slowed down.

The drug is injected intravenously and targets accumulated transthyretin. In particular, it silences a messenger RNA that blocks its production, so as to reduce that present in the organism. Phase III of the Apollo clinical trial yielded positive results. Subjects who received patisiran showed clear improvements. The drug has improved its ability to move, quality of life and nutritional status. All this convinced the European Commission to approve the drug.

Given the severity of amyloidosis, the European Commission used the accelerated evaluation procedure. This was followed by a few days authorization from the US Food and Drug Administration (FDA). The American body has approved the use of patisiran on adults and soon the authorizations of other countries should come.

Source: news-medical.net