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

All you need is an antibody to fight three rare genetic diseases. The antibody is called canakinumab and the three diseases are all characterized by fever and recurrent inflammation. The news of the discovery was spread by the Bambino Gesù children's hospital in Rome, which coordinated a world experimentation.

The study examined three genetic diseases: periodic syndrome associated with tumor necrosis factor receptor 1 (Traps); family Mediterranean fever (Fmf); mevalonate kinase deficiency (Mkd). For the first of the three there is a therapy, ineffective in 5-10% of cases. The other two diseases were instead without treatment. The researchers then looked for a way to stop inflammation and thus uncontrolled fevers.

The study involved 181 patients from 15 countries. The researchers used the canakinumab antibody on them, which blocks the action of interleukin 1. This is a key molecule in all three genetic diseases. Acting on it, the febrile episodes almost completely disappeared and the patients returned to a normal life. Among them there is also the nineteen-year-old Chiara, who has resumed her life after the treatment.

Chiara is affected by familial Mediterranean fever and does not respond to colchicine therapy. This forced her to live almost as a recluse, undermining friendships and academic achievement. Because of the illness, Chiara had to give up a normal childhood. The treatment of the Child Jesus has restored her control over her life, allowing her to attend university and to cultivate new friendships.

Source: repubblica.it

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

Among couples being treated for infertility problems, male depression is linked to a lower rate of success. On the other hand, untreated female depression does not seem to influence the techniques of assisted reproduction. This is what emerges from a study by Dr. Esther Eisenberg.

41% of women being treated for infertility problems have depression problems. The percentage rises to 50% among the male partners involved in in vitro fertilization cycles. The team of Dr. Eisenberg then examined the effects of depression on fertility. The goal was to evaluate how much depression affected the success of in vitro fertilization.

The researchers combined data from two studies funded by the NICHD's Reproductive Medicine Network. One study compared the efficacy of two drugs to induce ovulation in women with polycystic ovaries. The other compared the efficacy of three other drugs in cases of unexplained infertility. In both studies, men and women had drawn up a questionnaire about depression. On that occasion, the researchers had only asked the women what drugs they were taking.

Non-selective serotonin reuptake inhibitors increased the risk of spontaneous abortion. Otherwise, selective serotonin reuptake inhibitors have not been linked to such phenomena. These effects occurred if the female partner was the one to take the drug. The untreated female depression, on the other hand, did not affect the success of fertilization cycles.

In the case of depressed male partners, precise data on the use of antidepressants were lacking. In the case of depression in humans, however, the chances of conceiving were 60% lower. Although perfectible, the study offers an opportunity to choose antidepressants to be used concurrently with fertility treatments.

Source: nih.gov