Aarskog’s syndrome, aka Aaskorg-Scott syndrome, aka faciosydigitogenital dysplasia, is a very rare hereditary disease: it occurs in one out of a million people. It manifests itself as pathological changes in the face, bones, genitals. Mostly men suffer from this disease, women are carriers of this pathology, and in them it can manifest itself only in a mild form.
Causes of Aarskog syndrome
This disease is genetic and is caused by mutations in the gene associated with the X chromosome. As you know, women have two sex X chromosomes, and men have X and Y chromosomes. They are passed on to children from their parents. This explains the fact that boys who are transmitted from the mother carrier are at risk of getting the mutated gene along with the X chromosome. In girls, even in the case of a defective gene, another chromosome remains, which compensates for the pathology. As a result, their disease manifests itself in a milder form. Continue reading
Rubella is an acute viral infectious disease. Her symptoms were first described by the German physician F. Hoffmann in 1740, but the causes of the disease became known only in the 20th century, when rubella virus was isolated and studied in 1961.
Typically, rubella in children is easy, unlike adults, who are characterized by a severe course of the disease. Those who have had rubella have immunity to this virus throughout their lives.
From the moment of infection to the appearance of the first signs of rubella, 11 to 24 days, usually 16–20 days, pass. During this period, some patients may feel unwell, weak, tired, their temperature may slightly increase. Redness of the throat, eyes, runny nose, swollen lymph nodes are also possible. Continue reading
Our body is a very complex system, where millions of various biochemical processes continuously occur. In order for it to work smoothly, it is necessary to maintain certain constant parameters: body temperature, heart rate, blood pressure, etc. The constancy of the parameters of the internal environment of the body is called homeostasis. As soon as a failure occurs somewhere and the balance is disturbed, various diseases and pathologies arise.
One of the important components of the internal environment of the body is acid-base balance. Continue reading