Unusual Diseases: Aarskog Syndrome
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…

Continue reading →

How to relieve allergies in the spring
For many people, spring sunny days are overshadowed by sneezing, coughing, red eyes and a runny nose. 40% of the adult population suffers from seasonal allergies, and the peak of…

Continue reading →

Protein deficiency in the body: symptoms and methods of replenishment
Proteins are the main material that our body consists of. Lack of proteins leads to serious consequences, up to disruption of all organs and systems. What is protein and why…

Continue reading →

allergic with

1 2 3 7

Unusual Diseases: Aarskog Syndrome

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

Gaucher disease

A rather rare hereditary disease characterized by the fact that a patient accumulates fats of a certain type in the cells of bones and internal organs – glucocerebrosides. Gaucher disease is a rare disease, it occurs in one of 40-100 thousand. But in closed ethnic communities in which kinship is common, cases of the disease can be an order of magnitude more.
Gaucher disease

The “culprit” of this pathology is a mutated gene responsible for the activity of the enzyme that breaks down fats (lipids) of glucocerebrosides. As a result, these unprocessed lipids accumulate in the cells of various organs. Hence the second name of the disease – glucocerebroside lipidosis. Continue reading

Reasons to Seek Genetics

What the geneticist does
Medical genetics is a part of human genetics that studies diseases and pathologies caused by heredity. A genetic doctor studies hereditary diseases and the conditions under which a hereditary predisposition is realized. It does not cure any organ or system of the body, in its competence the identification of a disease associated with genetics, or the risk of its occurrence.

Tasks of genetics:
diagnose a disease due to heredity;
identify genetic pathologies of the fetus during pregnancy of the mother; Continue reading

1 2 3 7
Why does genital herpes appear
There are diseases that it’s simply not customary to speak aloud. They are ashamed to go to the doctor and live very uncomfortable. It is this pathology that is genital…

...

How often do you need to be tested
Excellent health few can boast of. Bad ecology, a busy rhythm of life, heredity, bad habits contribute to the development of diseases. And even half of those who are confident…

...

Unusual Diseases: Water Cancer
Water cancer has nothing to do with oncology, although this disease is no less severe and dangerous. Water cancer is an old name, as well as anton fire face. Now…

...

What happens and how immunity is formed in humans
Today the word "immunity" is heard. We all know that immunity must be enhanced, strengthened, strengthened. And when it weakens, we begin to hurt. And what is included in this…

...