heart health is strengthened by any load

Heart health is strengthened by any load

British researchers have proven that regular moderate or vigorous physical activity reduces the risk of heart failure. The experiments involved almost 95,000 people who wore electronic devices that track their level of involvement in sports.  Heart disease is the leading cause of death in developed countries, so researchers are constantly looking for ways to reduce…

nijmegen breakage syndrome

Nijmegen Breakage Syndrome

Nijmegen breakage syndrome is an extremely rare monogenic disease with an autosomal recessive type of inheritance, which is characterized by primary immunodeficiency, multiple anomalies. Pathology is associated with a mutation of the NBN gene. The main signs of Nijmegen breakage syndrome are: deformity of the facial skeleton in the form of a “bird” face, frequent…

Fragile X syndrome

Fragile X Syndrome

Fragile X syndrome is a hereditary disease characterized by persistent intellectual decline, autism spectrum disorders and specific phenotypic features. The key symptom is a lack of cognitive functions. Hyperactivity, lack of communicative abilities, isolation are noted. The face is elongated, the auricles are large, the forehead is protruding, the tip of the nose is curved.…

muckle-wells syndrome

Muckle-Wells Syndrome

Muckle-Wells syndrome is a hereditary disease from the group of cryopyrin—associated periodic syndromes (CAPS), which occurs due to a mutation of the NLRP3 gene. Pathology is manifested by recurrent fever, skin rashes, progressive hearing disorders. Eye damage and joint inflammation are also often observed. Biochemical and immunological blood tests, genetic testing, instrumental methods (ophthalmoscopy, X-ray…

Laurence-Moon-Bardet-Biedl syndrome

Laurence-Moon-Bardet-Biedl Syndrome

Laurence-Moon-Bardet-Biedl syndrome is an autosomal recessive neuroendocrine disease characterized by obesity, dystrophic lesions of the retina, intellectual disorders. Pathology is also manifested by various deformities of the skeleton, congenital malformations of internal organs, neurological complications. To diagnose the disease, neuroimaging, fundus examination, and a comprehensive laboratory examination are required. Supportive therapy includes medications (nootropics, hormones),…

leigh syndrome

Leigh Syndrome

Leigh syndrome is a genetically heterogeneous hereditary disease characterized by a variety of metabolic disorders and the formation of components of the central nervous system. Symptoms of this pathology, as a rule, manifest themselves in early childhood, they include muscle hypotension, problems with feeding and delayed psychomotor development. With further progression of the disease, epileptic…

lesch-nyhan syndrome

Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome is a hereditary disease that occurs when there is a violation of purine metabolism, excessive accumulation of uric acid in the body. It develops due to a genetic mutation that causes a deficiency of the enzyme HGPRT. It is manifested by attacks of gout, severe neurological deficiency, self-harming behavior. Diagnosis of the disease…