Aurora magazine

A brief diagnosis of rare diseases will pass for a picture. The merit of the researchers from the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. The scientists used a facial recognition software to diagnose a rare genetic disorder. This is the 22q11.2 deletion syndrome or DiGeorge syndrome, which affects about one child in 3000-6000. The disease causes malformations also very different from ethnicity to ethnicity, which makes the diagnosis difficult. The discovery will facilitate the enterprise, so that patients receive better care and more timely.

The syndromes characterized by malformations may change in different parts of the world. This complicates the diagnosis among the non-European populations. The researchers collected clinical information of 106 patients. They have supported the photographs of 101 sick people from 11 countries in Africa, Asia and Latin America. They also added those of Caucasian patients, for a total of 156 photos that compared with those of healthy people.
The analysis software identified 126 individual facial features. Thanks to them, the researchers diagnosed the disease for all ethnic groups, with an accuracy of 96.6%. The technology is similar to that used in airports and also proved to be very accurate in the diagnosis of Down syndrome. The next step will be applying to the Noonan syndrome and Williams syndrome, both rare genetic diseases.

The study has expanded the Atlas of Human Malformations in Diverse Populations, 'initiative of the NHGRI. The atlas contains photos of the physical traits of different ethnic group and persons suffering from genetic diseases. In addition to photos, including written descriptions of the subjects, their phenotypes, the regions of residence and genetics and molecular diagnosis.

Source: genome.gov

An international team of Mount Sinai Hospital and the UConn School of Medicine have discovered how to deal with some rare forms of cancer. The credit goes to the use of latest-generation genome sequencing, similar to what is used for prenatal diagnostic tests. The study demonstrates the effectiveness of the approach and opens the door to new treatment options for rare diseases.

The researchers carried out the sequencing on tumor and normal tissues of 17 patients. The subjects were suffering from parathyroid carcinoma, a rare form of cancer for which no treatment exists. The tumor causes progressive metabolic complications that cause calcium levels in the blood very high, weak bones, kidney damage and eventually death. At the moment the only hope is early surgery.

The analysis revealed mutations in genes linked to the development of cancer and paths. Among these are the CDC73, the path PI3K / AKT / mTOR and Wnt, already known. This in-depth characterization has revealed the genetic mechanisms involved in parathyroid carcinoma. The discovery could lead to the development of the first treatment for patients examined.

For the moment it is the largest genome sequencing ever done among those dedicated only to parathyroid carcinoma. The approach proved to be potentially useful not only for this specific disease, but also for many other cases. The sequencing fact allow in-depth study of many diseases neglected today, as too rare. It will also provide a new point of view, even when there are few cases to study.

The study combined two great excellence. On one side are the researchers at UConn, specialized in parathyroid tumors and endrocrini diseases. On the other are those of Mount Sinai, the first in the world to genome sequencing and bioinformatics analysis.

Source: mountsinai.org

In 75 years the Pap smear has saved the lives of millions of women around the world. The test consists of a morphological examination of cervical cells, to detect anomalies. This way you can prevent cervical cancer. The test, however, requires an experienced cytologist order to be effective. That's why the arrival of the HPV test is intended to change the world of prevention for millions of women.

The HPV test is virological tests done on cervical cells. Diagnosing the infection with human papillomavirus and, compared to the Pap test detects an increased number of precancerous lesions and in less time. This makes it possible to lengthen the interval between a screening test and the other, from the current three years to 5. If the HPV test individuals abnormality in the cervix, making the Pap test on tissues already taken. If the Pap test is positive, it passes to colposcopy. If not, repeat the HPV test one year later. If the test does not detect anything, it has to do with a share of 80-90% of infections resolve themselves.

The HPV screening tests existed for several years, but is coming to Italy gradually. It is expected a decrease of ten times the annual number of Pap tests. The cytopathology active today will take care of the findings for the women tested positive for the first test. The number of annual colposcopies should remain unchanged, although concentrated on selected women better. Although the test is more expensive than the Pap test, it calculates a 30% saving on organizational costs and 20% of the levies on costs. The credit will be the lesser frequency with which you will have to take the test.

Now it is important to inform women about the changes going on and what to bring. In particular, it is important that anyone who tests positive for HPV testing to understand that it is not synonymous with disease. It is also important to understand that it is possible to contract the virus even through non-comprehensive reports and oral type.

Source: repubblica.it

The Opitz syndrome is a rare genetic disorder that causes mental retardation and multiple congenital anomalies. It affects about 1 per 1 million and there are 40 known cases in the world. Those who suffer from it have eyes too far apart, broad nasal bridge, malformations in the larynx and pharynx. In male genital organs develop abnormally. These defects cause problems in swallowing and breathing and, sometimes, deficits in mental development.

Before the discovery of the University of Barcelona, ​​the only gene linked to the disease was MID1. The gene is on the X chromosome, so the disease is probably transmitted through the mother. Usually symptoms occur only in males, while females are mostly healthy carriers. Some of them have widely separated eyes, but nothing else. However, there are cases of autosomal dominant inheritance, where the mutated gene is dominant. It follows that the parent has a 50% chance of transmitting the disease to their children, both boys and girls.

To date, the diagnosis is made by observation of clinical features. Is there a genetic test for abnormalities MID1 gene, but some patients do not have the mutation. For this reason, the test is not quite value for prenatal diagnosis. The routine prenatal screening tests can, however, identify certain of its defects of the disease. If there are cases in the family, in addition, you can search for causing mutations in the fetal DNA by CVS.

The lack of knowledge of Opitz syndrome makes it difficult to draw decisive therapies. The 50% of children die from complications during childbirth. In the other 50% of cases, it agiscecontro the manifestations of the disease, so as to improve the quality of life of patients. Where necessary and possible, doctors recommend surgery to reduce defects. The reduction of some malformations may decrease some side symptoms, related to the respiratory system.