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…

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How we age: sarcopenia
The aging process begins in the body after 25-30 years, when there are still no signs. But aging is not only wrinkles on the face and gray hair, and not…

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Can a cold be cured in one day?
No one is safe from colds. And for some reason, she always catches up with us at the wrong time: before a responsible exam, on the eve of an important…

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and becomes completely

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

How we age: sarcopenia

The aging process begins in the body after 25-30 years, when there are still no signs. But aging is not only wrinkles on the face and gray hair, and not even age-related ailments. One indicator of aging is a decrease in muscle mass.

What is sarcopenia
The fact that with age a person loses muscle mass, noted Hippocrates. But until recently, this fact was somehow not taken into account. And only in 1989, scientists introduced the concept of “sarcopenia”, which in Greek literally means “reduction of the body” (sarx – body, penia – decrease). Since then, the term has been used to refer to atrophic muscle changes that occur with age. Muscle mass can also decrease due to other reasons: cancer, severe renal failure, AIDS, etc. But sarcopenia is precisely age-related changes. Continue reading

What mental illnesses are inherited?
Are mental illnesses inherited? This question worries many parents. It is very scary to “reward” your child with a mental disorder. How are mental illnesses transmitted? The fact that mental…

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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…

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Can a cold be cured in one day?
No one is safe from colds. And for some reason, she always catches up with us at the wrong time: before a responsible exam, on the eve of an important…

...

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…

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