Aurora magazine

Familial Mediterranean fever (FMF) is a genetic disease prevalent in the south-east of the Mediterranean. It is an auto-inflammatory disease, characterized by recurrent episodes of fever and serum. This causes pain in the abdomen, chest, joints and muscles. It is estimated that it affects about 1 person every 200-1,000.

The disease is divided into type 1 and type 2. Type 1 occurs at a young age and is the most severe. The second type is instead less severe and occurs in the first 30 years of age. Both types are characterized by fever attacks that tend to disappear by themselves in 1-4 days. Depending on the severity of the disease, it ranges from about 1 fever attack per week to 1 every 2-3 years.

The triggers of fever attacks can also be mild. Stress and menstruation are among these, for example. Sometimes even a slightly richer fat meal and exposure to the cold are enough. Usually the attacks are preceded by a series of symptoms lasting about 17 hours. The subject begins to feel myalgia, nausea, low back pain, anxiety. Then the body temperature rises to 38-40 ° and appear abdominal pain, arthralgia and chest pain. Fever of this type is refractory to antibiotics.

The causes of familial Mediterranean fever are genetic. The scientists identified 218 mutations of MEFV related to the disease, transmissible by autosomal recessive. The disease then manifests itself only if both parents are carriers and transmit the mutated gene. The latest research, however, hypothesize the involvement of other genes over MEFV.

Diagnosis is made by analyzing clinical data and, in case of doubt, by genetic testing. For the moment there is no cure for this disease, but only symptomatic treatments. Colchicine reduces fever attacks and related complications. Patients should take it for life and some of them are intolerant to the drug. In this case, there are no alternatives.

Source: orpha.net

In the case of lung cancer with metastases, genetic testing is now a standard practice. They help to identify the most effective treatment without dangerous waste of time. Standard tests examine single genes known for their role in the appearance of the tumor. According to a new study, however, the next-generation genetic sequencing (NGS) could be more effective.

The study started from a model based on hypothetical cases and patients, 2221 in all. This is a big limitation, given that researchers started from many unverifiable assumptions. The results will therefore require further confirmation. Nevertheless, the first results confirmed the greater reliability of the new generation sequencing.

The method would in fact be faster, with a higher percentage of identified and even less expensive alterations.
Standard genetic tests focus on a limited number of individually analyzed genes. But there is a problem: the number of genes involved in the onset of the tumor is growing. Standard therapies approved by the US Food and Drug Administration affect only four of these genes. Also identifying the other genes and striking them with ad hoc treatments could therefore greatly improve current treatments.

The study authors point out that larger genetic tests could radically change some treatments. For example, a traditional test could detect a mutation of the EGFR gene, linked to lung cancer with metastasis. The next generation sequencing could reveal the presence of a KRAS mutation. This mutation makes the tumors resistant to the drugs used in case of an anomaly in the EGFR gene. As a result, the broader genetic test would avoid unnecessary treatment for the patient.

Source: medscape.com

Ehlers-Danlos syndrome is a rare genetic disease that affects connective tissue. Its exact numbers are not known, but it is estimated that it affects about 1 individual every 5,000 / 20,000, especially women. Unfortunately, the clinical variability often leads to underestimating it and makes the diagnosis more difficult.

The onset of the syndrome can occur at any age. In young children it is more difficult to diagnose, as joint laxity is quite normal up to a certain age. One of the main symptoms of Ehlers-Danlos syndrome is in fact an excessive laxity of the joints. This makes the person more vulnerable to dislocations and subluxations.

Several patients also exhibit soft and hypersensitive skin, with a marked tendency to bruising. The disease also affects the gastrointestinal system, causing intestinal disorders of various kinds. Among the possible complications related to the syndrome are chronic pain, fatigue, early osteoporosis and cardiovascular problems.

The parents of those who suffer often show a mild version of the symptoms. Nevertheless, to date we do not know the exact causes of the disease. One thinks of the halo-insufficiency of tenascin X, a protein encoded by the TNXB gene. This also helps make the diagnosis difficult.

Much of the diagnosis is based on clinical observation and family history. The doctors focus in particular on the articular hyperlassicity, on the hyperextensible skin and on a recurrent articular instability in the family. For the time being there is no prenatal diagnosis test for Ehlers-Danlos syndrome.

Unfortunately there is no definitive therapy for this disease, nor specific treatments. The most widespread approach is the treatment of symptoms through personalized therapies. Physiotherapy and rehabilitation can help to contain symptoms and are often accompanied by painkillers.

Source: orpha.net

Breast cancer is very rare in men, but it is still a possible event. Only 1 in 100 cases of breast cancer affects humans, often with far more serious outcomes than in women. If women have now learned to juggle between mammography and self-examination, in fact, this does not apply to men. Most often the disease remains undiagnosed until it is already late.

For men, the possibility of breast cancer remains remote. Nevertheless, the genetic test to detect BRCA mutations could also be useful for them. If there have been cases of breast and ovarian cancer in the family, for example, they may also be responsible for the responsible mutation. This is what Dr. Laura Ottini of Sapienza of Rome is saying.

Every year there are 500 cases in Italy of male breast carcinoma. According to two studies, about 15% of these are caused by hereditary mutations. That's why genetic testing should not be a feminine exclusivity. To fill this gap, the two teams detected genes related to breast cancer in humans. They then calculated a risk index for men who are carriers of mutations.

If the genetic test is successful, prevention is quite easy. Male breast cancer usually appears after 60-70 years and would be relatively easy to diagnose. Just perform self-examination regularly, just like women. At this point identifying a nodule or something strange is simple, given the shape of the male breasts.

Source: corriere.it