Aurora magazine

Italy is the first country in the world for the precocious diagnosis of Duchenne muscular dystrophy. This was stated by a retrospective study of a team Pediatric Hospital Bambino Gesù in Rome. Over the past 10 years the average age of diagnosis was approximately 41 months, with an advance of about 10 months than other countries. This allows to intervene with earlier treatment and therefore more effective.

The researchers, led by Dr. Adele D'Amico, studied data from 15 tertiary centers collected in about 10 years. They analyzed the average age of diagnosis of 384 Italian children turn again to tertiary centers neuromuscular between 2005 and 2014. In addition to the age of diagnosis, they have also focused on the factors that led to the final diagnosis. They assessed both what were the first signs that have led us to develop a suspicion, both the paths used to reach the diagnosis.

The first medical contact that led to the diagnosis occurred on average 31 months. Often trigger the suspicion were routine analysis, they found elevated serum creatine kinase levels or transaminases. Another important element of suspicion has been the finding of a motor retardation and muscle weakness. In the first 29% of the cases to raise the doubt it has been a pediatrician in 35% it was a specialist in tertiary centers and 23% a specialist hospital centers of first level.

The key to early diagnosis lies in the frequency with which the Italian pediatricians prescribe certain tests in case of vomiting, diarrhea, or prolonged fever. Once detected abnormal levels of creatine kinase, the diagnosis becomes much simpler. Abroad, however, the creatine kinase test is much less frequent and this contributes to the diagnostic delay.

Monitor the health of their children is important. It is a path that Mom already implemented during the period of pregnancy by performing prenatal screening test. non-invasive examinations, such as the fetal DNA test, it is useful for the detection of the most common chromosomal abnormalities.
Source: pharmastar.it

A rare genetic disorder of the adrenal gland cause genital masculinization in females. She found a team from the School of Medicine Icahn, who made a full clinical and genetic profile of the 11 beta-hydroxylase deficiency. The discovery could lead to a new prenatal screening test, to carry out a treatment that prevents genital ambiguity.

The 11 beta-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia. It causes a deficiency in the secretion of cortisol, resulting in excessive secretion of the male adrenal. Around the 9th week of pregnancy, the phenomenon interferes with the development of the genitalia of female fetuses. The interference causes masculinization of the female genitals, resulting in genital ambiguity.
The genetic disorder affecting 1 in 100,000 in the United States. The team collected data from 108 patients with deficits of 11 beta-hydroxylase, discovering a greater occurrence among those who come from countries where there is combined inbreeding. The fact causes a recessive gene, that the sick person has inherited from both parents.

The researchers identified an abnormality of chromosome 8, the enzyme responsible for precisely 11 beta-hydroxylase. They then examined how each determinasse mutation in patients greater or lesser severity of genital ambiguity. They also identified other disorders caused by this kind of mutations, such as hypertension and abnormal maturation of the skeleton. The study also made it possible to examine the effects of the deficit on the males, which often go unnoticed.

Dr. New and his team have developed a test for the non-invasive prenatal diagnosis of the disorder. You can use the test from the 6th week of pregnancy, from a single drop of maternal blood. The test identifies the deficit of 11 beta-hydroxylase, allowing you to proceed with a dedicated drug treatment. In this way it prevents the masculinization of the genitals of the fetus in the same womb.

Source: sciencedaily.com

Neuroendocrine tumors are so called because it affects the cells of the neuroendocrine system. These cells are present throughout the body, with characteristics midway between the nerve cells and endocrine ones, that produce hormones. Depending of the organs in which they are located, also they change their function.

Neuroendocrine tumors are relatively rare, affecting about 5 people per 100 thousand. In Italy it is referred to about 3000 cases per year, less than 0.5% of all registered malignancies. Are low-incidence cancers, very slow to develop and that allow you to live with the disease also very long. For this reason, compared with a low number of new cases each year, sufferers are significantly more. The most affected by this form of cancer are the elderly, but not all. The disease it affects people of all ages, but under 40 years.

The most common form of neuroendocrine tumor is one that affects the gastro-entero-pancreatic. 70% of diagnoses are attributable to neuroendocrine tumors of the pancreas, to distinguish between "well-differentiated tumors" and "poorly differentiated." The former represent 90% of cases, they are slow-growing and treatable in most cases. Those "poorly differentiated", however, tend to develop metastases that are often already present at diagnosis.
When there is located in front of a well-differentiated tumor, it is possible to act with lenses less violent treatment and also for the patient. In the case of poorly differentiated tumors, however, we must act immediately and aggressively. That's why it is so important to the development of new genetic tests, which identify a genetic predisposition as in the case of ovarian cancer.

A study of Arc-Net center at the University of Verona has identified three new genes involved in pancreatic neuroendocrine tumors. The international team has decoded the genome of pancreatic neuroendocrine tumors, identifying new genetic mutations linked as they arise. The discovery will facilitate the diagnosis and classification of the disease. also it allows you to develop personalized treatments, designed according to the characteristics of the individual patient.

Scientists have sequenced the genome of about 100 tumors, then used the other 60 data samples as a comparative measure. The data revealed that 17% of the cases were linked to a genetic mutation, in contrast to 5% estimated at the beginning. They also showed three new genes involved, namely BRCA1, CHEK2 and MUTYH. These will add to other two genes known to the involvement in the disease, MEN1 and VHL. Genetic abnormalities are related to the ability to repair DNA and growth regulation and cellular aging.

Neuroendocrine pancreatic tumors are heterogeneous and often slow to develop. Some of these, however, they become aggressive suddenly and for no apparent reason. Genetic analysis may help understand which tumors are more aggressive. In this way, doctors would reserve the harshest treatment at really necessary cases. also make locating through a DNA test the most at risk, so as to make early diagnosis and minimize the risks.

Something similar is happening already with other forms of cancer, such as breast and ovarian cancer. In the case of these tumors, they know some of the genes involved in their development. You can then make specific genetic screening, highlighting a possible predisposition and enable it to take appropriate precautions.

Source: repubblica.it