How to determine vitamin deficiency
Vitamin deficiency - a deficiency of vitamins in the body - manifests itself in different ways depending on which vitamin is missing. More often faced with a lack of several…

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What you can catch when swimming and how to avoid it
As soon as warm days are set, the first most seasoned citizens open the bathing season. Well, when the heat comes, literally everyone rushes to the water. On such days,…

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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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allergic with

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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

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Dysbacteriosis
Dysbacteriosis is an imbalance in the microflora in the human body. Our body is home to many different bacteria. Some of them are useful, supportive of vital functions and necessary…

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Dysbacteriosis
Dysbacteriosis is an imbalance in the microflora in the human body. Our body is home to many different bacteria. Some of them are useful, supportive of vital functions and necessary…

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How is a deficiency of vitamins of group B
If health begins to fail, and the reflection in the mirror does not please at all, then thoughts about vitamin deficiency immediately arise. To replenish the supply of nutrients, the…

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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…

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