Only 1.1 to 1.4% of the entire sequenced genome are sequences that encode proteins. One of the most important parts of the Human Genome program is the detection of genes in sequenced genom...

Neural muscle atrophy is a heterogeneous group of diseases that is heterogeneous in its manifestations and genetic defects, which is characterized by multiple lesions of peripheral nerves. For th...

The disease is inherited by an autosomal recessive type. The nature of the gene mutation is not established. Currently, the following forms of cystinosis are distinguished. 1. Heavy ch...

The human skeleton is a highly organized connective tissue susceptible to severe hereditary diseases. These are genetically caused disorders in which bone and cartilage are affected. Hereditar...

Acute complications of diabetes mellitus Acute complications of diabetes mellitus pose a serious threat to life. Acute complications include hyperglycaemic and hypoglycemic coma. The most of...

Until recently, the diagnosis of monogenic hereditary diseases was based exclusively on the features of the phenotypic manifestation of the disease. Only in some hereditary metabolic diseases,...

This disease consists in stopping menstruation as a result of excessive formation in the body of a woman's pituitary hormones( gland of the brain), stimulating the function of the ovaries. Normal...

Chromosomal diseases are syndromes, the development of which is caused by changes in the number or structure of chromosomes. The incidence of chromosomal diseases among newborns is about 1%.Th...

Lipids - Fats and Lipids is a large group of substances that includes a large number of different substances, for example triglycerides, cholesterol, cholesterol esters, free fatty acids, phos...

Hereditary disease of lipid metabolism, characterized by the accumulation of a variety of lipids( cerebrosides) in the cells of the nervous system. Currently, two forms of the disease are know...

Genetics is a science that studies heredity and hereditary variability. Directly under heredity means the material carriers of heredity, the patterns of transmission of these material carr...

Leukodystrophies are hereditary diseases of the nervous system, characterized by the breakdown of the myelin sheath, which leads to the destruction of white matter in the brain. leukodystrophie...

These congenital malformations can be located in the middle or side, that is, they are medial and lateral. If you trace the genetic pedigree in children with congenital cysts and fistula ...

Choans are the back holes of the nose that communicate the nasal cavity with the pharynx. Through the choana, the air that enters the inhalation enters the respiratory tract. The growth of the...

Hereditary diseases of the nervous system are a heterogeneous group of diseases that are caused by changes( mutations) at the gene level. Despite the wide variety of forms, all these diseases...

Hereditary spinocerebellar ataxia is a clinically and genetically heterogeneous group of lesions of the central nervous system structures, characterized by progressive deterioration of balance an...

Essential tremor is a disease transmitted by an autosomal dominant type of inheritance, the main symptom of which is trembling. The frequency of occurrence of essential tremor in the populatio...

Hypothyroidism is a disease that occurs as a result of a prolonged, persistent deficiency of thyroid hormones or a decrease in their biological effect at the level of the tissues of the human bod...