Aurora magazine

An epileptic seizure is an abnormal electrical discharge in the cortex or brain stem, which causes a variety of neurological symptoms. It affects about 5% of people, and in most cases it is an isolated phenomenon. There is talk of epilepsy only if the phenomenon is repeated, which occurs in about 0.5% of the population.

The isolated seizures are often linked to alcohol and drugs or sleep deficit. They are also connected with two disturbing elements within the brain, such as tumors or aneurysms. In fact all factors that increase the excitability of nerve cells and inhibit their spontaneous firing. In these cases the excess electricity flows into the seizure, but it is an exceptional event. In epilepsy idiopathic, however, lacking obvious causes for the continuing crisis. Often the first they occur between childhood and adolescence, in genetically susceptible individuals.

The diagnosis of the disease requires an evaluation of the clinical history of the subject and symptoms. As the crisis resulting in loss of consciousness, even external observations of third parties are necessary. The electroencephalogram allows to detect any alterations in brain electrical activity, sometimes also present in the absence of symptoms. MRI and CT scans, however, possible to identify the most important traces of the disease and any specific causes.
If doctors ascertain the diagnosis of epilepsy, we proceed with the drug treatment. Antiepileptic drugs are used to stabilize the electrical activity of nerve cells, so as to block any discharges. The therapy helps to reduce symptoms and help patients in a normal way, but does not act on the causes. In addition, the drugs can be problematic during pregnancy, with consequent lowering of dosages.

In 20% of cases the drugs are insufficient. It is therefore resort to surgery, whereby it removes the cerebral region from which depart from the crisis. This requires that the region is easily identifiable, so as not to cause neurological damage in removing it.

In drug-resistant cases, and in those in which surgery is not recommended, it can also act with the stimulation of the vagus nerve. It is less effective than surgery and involves the installation of a pacemaker in the brain. It connects with the left vagus nerve, which carries the stimuli from the viscera to the brain. Its stimulation makes the brain less susceptible to crises, even if you do not yet know why.

A study of the University of Chicago and Pittsburgh reveals that the role of reovirus in the development of celiac disease. The disease has a genetic origin, but the appearance is connected to a viral infection. The discovery could lead to development of a vaccine to be administered to high-risk children.

Celiac disease is an autoimmune disease that causes intolerance to gluten, a protein found in wheat. He knows he has a genetic origin, but the preparation is not enough to manifest. According to the study, to give input to the disease would be a virus itself symptomless and harmless to patients without genetic anomaly. In individuals already predisposed accelerate the onset of celiac disease.

Almost all human beings suffer from reovirus infection in their lifetime. In most people the infection is even preschoolers and rarely leads to a real disease. The researchers tested two strains of reovirus on mice predisposed to celiac disease. They found that one of the two reduced tolerance to gluten and, assuming you have the gene of intolerance to gluten, it causes the appearance.

Researchers believe that infection with reovirus induces an inflammatory bowel reaction that leads to the development of the disease. Celiac patients in fact have an excess of specific antibody to fight the reovirus and IRF1 molecule. The molecule reduces tolerance to gluten and, when you introduce the gluten in the diet, triggers an immune reaction. The immune system then labeled gluten as a harmful substance to the body. All this culminates in disease presentation.
Among the researchers involved there is also Dr. Disciple, University Federico II of Naples.

Source: corriere.it

The tumors of the parathyroid gland affect the endocrine glands that are located near the thyroid gland, usually on the neck. There are benign and malignant versions; in the first case to speak of adenoma, in the second of parathyroid carcinoma. It is a very serious and very rare disease, which leads to death for dependent complications of blood and bones.

The parathyroid carcinoma affects mainly men and women between 45 and 50, but can appear at any age. The main symptom is a hypersecretion of PTH, parathyroid hormone that controls calcium levels in the blood. It presents with a palpable lesion on the neck and causes bone disease in 76% of cases and in 26% of renal dysfunction. The most severe cases are, however, those without the hypersecretion, as more difficult to diagnose. In these cases, the diagnosis is often delayed and it becomes difficult to intervene.

The parathyroid cancer symptoms are mostly related to excess calcium in the blood. This leads to the weakening of the bones, leading to pain and abnormal fractures. It also causes the accumulation of calcium in the kidneys, leading to development of thirst and frequent urination, and kidney stones. Given the involvement of the thyroid gland, symptoms include fatigue and weakness. If you experience these symptoms, you should do a background check. But it is good to remember that the causes of excess calcium in the blood are not all of which connect to the tumor.

The diagnosis of parathyroid carcinoma is often difficult. The PTH hypersecretion is the most important clue, but it is not always present. In suspected cases, doctors also prescribe serum calcium levels, ultrasound scan of the neck and parathyroid glands.

If detected in time, a possible approach is the correction of hypercalcemia and surgery. In many cases, however, the operation is also done in the case of a suspected gland, without confirming that it is a tumor. Once you eliminated the tumor, chemotherapy and radiation are not very effective for preventing relapses. The only way forward is the repeated recourse to surgery, at least for now.

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