Identify the pathology of the fetus has become easier. DOT test
The birth of a child is a great happiness in the life of a family. And of course, every mother first of all wants her child to be born healthy. Here, of course, planning of pregnancy, lifestyle, proper nutrition of a pregnant woman are very important. But, unfortunately, this is not enough. The health of the unborn child depends on genetic factors. Today, doctors have the opportunity to identify chromosomal abnormalities in the fetus in the very early stages of pregnancy. Continue reading
Stem cell use
Most recently, a large center for the harvesting and storage of stem cells has opened in Yekaterinburg. They are actively used in oncohematology, regenerative therapy (heart attack, stroke, diabetes mellitus, Crohn’s disease, autoimmune diseases, chronic hepatitis and cirrhosis), in thermal and chemical burns, and in aesthetic medicine. However, the future of the “cell factory” is still uncertain. The fact is that this area of medicine still does not have a sufficient legislative base in Russia, and scientific research is practically not funded. Continue reading
Hereditary diseases
Hereditary diseases are diseases caused by chromosomal and gene mutations. Some confuse hereditary diseases with congenital diseases. Indeed, congenital diseases, that is, diseases with which a child is born, may be hereditary, but they can also be caused by any damaging external influence on the embryo or fetus – an infection, ionizing radiation, a toxic substance. On the other hand, not all hereditary diseases are congenital, as some of them may occur later, even in an adult. Continue reading
Unusual Diseases: Aarskog Syndrome
Aarskog syndrome, also known as Aaskorg – Scott syndrome, or faciesigiogenital dysplasia, is a very rare hereditary disease: it occurs in one person in a million. It manifests itself with pathological changes of the face, bones, genitals. Mainly men suffer from this disease, women are carriers of this pathology, and in them it can manifest only in a mild form. Continue reading
Unusual Diseases: Stone Man Syndrome
The stone man’s syndrome in medicine is called progressive ossifying fibrodysplasia, or Müncheimer’s disease. This is a genetic pathology that is caused by a mutation of the gene responsible for bone formation. Its essence lies in the fact that the patient ligaments and muscles turn into bones, as a result, a person ossifies or stiffens. Hence the name – stone man syndrome.
This disease is known since the end of the XVII century, then it was first described. The disease is extremely rare. Now, according to various sources, there are 600, 800 or 2500 patients in the world. Continue reading
