Aurora magazine

Thanks to a 6-year research project, researchers at the Case Western Reserve University School of Medicine have identified 63 genetic mutations that increase the risk of prostate cancer. Genetic markers will help to improve genetic testing, determining who needs regular checks.

Previous studies have identified about 100 abnormalities related to prostate cancer. The presence of one or more of these increases the risk of developing a tumor by 50%. The study led by Dr. Schumacher went a step further, identifying 63 new genetic markers.

The team has sequenced the DNA of about 140,000 men of European ancestry. About 80,000 of these had suffered from prostate cancer. The remaining 60,000 had never shown any symptoms related to the disease. The researchers compared the data, detecting 63 genetic variants present in the first group but not in the second group.

According to the researchers, the genetic markers identified to date could only be the tip of the iceberg. The genetic anomalies related to the disease could be 500-1000, even if it will not be necessary to map them all. 10-20% of these could be enough to improve the lives of many men, so as to prevent the development of the tumor or choose the best therapy.

Prostate cancer has a strong component of familiarity. Men with a brother affected by the disease are more likely to develop it in turn. The current screening test identifies a specific prostate antigen, whose levels indicate the possibility of a tumor forming or already present. If the levels are high but there are no neoplasms, then the test must be repeated within 2 years.

Schumacher's study focuses on genetic variants for his screening test. For the moment it is still early to talk about specific genetic tests. Nevertheless, the discovery of the 63 new markers is a big step forward.

Source: medicalnewstoday.com

Cytomegalovirus or Cmv is a worldwide virus that belongs to the same family as Herpes. It is a very common virus, which once contracted remains latent throughout life. The weakening of the immune system can cause its reactivation.

Most often, the cytomegalovirus is asymptomatic and all in all harmless. The infection is instead dangerous for immunocompromised individuals, in which it causes complications in eyes and liver. In addition, congenital cytomegalovirus infections permanently damage the fetus. These occur if the mother contracted the infection during pregnancy or while breastfeeding.

Congenital cytomegalovirus can be caused by primary or secondary transmission. In the first case, the mother contracts the virus for the first time during pregnancy. In the second, the first latent virus awakens during pregnancy and infects the fetus. Both types of transmission do not appear to be related to the gestation period. According to some studies, however, there would be more dangers in the first three months.
For the primary form of cytomegalovirus transmission, the risk of congenital cytomegalovirus is between 30% and 40%. For the secondary form, between 0.5% and 2%.

Congenital cytomegalovirus is asymptomatic in 85% to 90% of cases. 10% of asymptomatic infected children show late symptoms, often related to hearing problems. The remaining 10-15% of newborns are symptomatic and show permanent or temporary symptoms of varying severity. Permanent symptoms include deafness, blindness, mental retardation, motion deficit. In some cases, they occur after years of birth, although they are uncommon.

To date there is no vaccine against cytomegalovirus, so we must act on prevention. Transmission occurs mainly through the exchange of body fluids. For this reason, the first way to prevent infection is to wash your hands before eating, after going to the bathroom and after changing a diaper.

Source: epicentro.iss.it

A new genomic test predicts the best treatment against breast cancer. In particular, it indicates whether chemotherapy is necessary or not. This is what emerges from the TaylorX study, presented at the World Congress of Medical Oncology (Asco) in Chicago.

The results refer to the most widespread type of breast cancer, the one responsive to hormones and which does not involve lymph nodes. According to the study, chemotherapy would be superfluous for 70% of patients affected by this type. In the case of early diagnosis, only hormone therapy would suffice for them. How to distinguish them from the other 30%, however? Researchers at the Albert Einstein Cancer Center in New York have developed a test for this.

The one presented in Chicago is the second clinical trial on the test. The test examines the activity of specific genes within tumor tissues. In this way it helps to understand the biology of the tumor, how resistant it is and how likely a relapse is. This is done by examining a sample taken from the tumor. Based on the results, assign a score ranging from 0 to 100 and indicating the probability of relapse within 10 years.

If the score is 0 to 10, the risk of recurrence is low. This means that chemotherapy is less necessary and that you can focus on other therapies. If the score goes from 26 to 100, it is better to carry out chemotherapy. In the first clinical trial, scores between 11 to 25 were uncertain. The second trial shed light on the best approach even in these cases.

The researchers tested the procedure on over 10,000 women with breast cancer. Of these, about 6,000 had scored between 11 and 25, so uncertain. Half of them have performed chemotherapy and hormone therapy; the other half performed only hormone therapy. After the treatment, the doctors followed them for about 7 years. In the long run, the two types of treatment have had similar results.

According to the data collected, chemotherapy did not increase the chances of survival of these women. Metastasis and relapse rates were equivalent. In the case of results between 11 and 25 in breast cancers responsive to hormones diagnosed early, therefore, hormone therapy is sufficient. There seems to be one exception: in patients under 50, double therapy may still be advisable.

Source: repubblica.it

Holoprosencephaly is a genetic disease affecting about 1 live birth every 10,000 worldwide. It affects the brain and presents 3 classical forms, with a gravity gradually greater. All three manifestations start from a defect in the separation of the cerebral hemispheres, but there is a strong clinical variability.

The three forms are:

• alobar holoprosencephaly. It is the most severe form of holoprosencephaly: the separation is completely absent and the thalami are fused. As a result the skull is smaller than average and roundish. Prenatal diagnosis is possible from the first trimester;
• Semilobar holoprosencephaly. The hemispheres are fused in the anterior area;
• lobar oloprosencephaly. This is the most difficult form to diagnose. The separation is almost complete, so the disease can go unnoticed during ultrasound.

In most cases, a correlation between disease severity and facial abnormalities is evident. The most severe form is often accompanied by craniofacial malformations. In the slightest form, however, the malformations are almost absent, even if there is a certain degree of mental retardation. Common symptoms are also motor deficit, food problems, epilepsy and endocrine disorders. Severe forms are often fatal due to brain malformations and associated defects.

Prenatal diagnosis usually occurs through ultrasound and imaging diagnostics. Current genetic tests are able to identify about 25% of the mutations related to the disease. The latter are especially recommended for women who have more than one risk factor, such as suspected familiarity and diabetes.
The prognosis of oloprosencephaly is variable and depends largely on the form of the disease and related complications.

Source: orpha.net