Researchers have managed to genetically modify mosquitoes so that they are not able to spread malaria. This can affect the incidence rate of millions of people in different countries of the world. Malaria is a very dangerous disease that is spread by mosquito bites. Researchers at the Bill and Melinda Gates Foundation’s Institute for Disease…
Canavan disease (spongiose infant degeneration) is a genetic neurodegenerative disease based on a lack of the enzyme aspartoacylase, which leads to demyelination of the nerve fibers of the brain. Disease manifests itself in early childhood with impaired motor skills and child development, difficulty eating, muscle hypotension, macrocephaly, epileptic seizures, blindness. Pathology is diagnosed by urine…
Gamstorp disease is one of the forms of transient muscle weakness associated with a sharp increase in the potassium content in the blood. Gamstorp disease is manifested by attacks of weakness occurring with varying frequency in the limbs and muscles of the face, which are accompanied by paresthesia, vegetative disorders, decreased reflexes and muscle tone…
Wilson’s disease is a hereditary disease transmitted by an autosomal recessive type. It occurs under conditions of mutations in the ATP7B gene encoding the copper-transporting liver ATPase protein. A characteristic feature of Wilson’s disease is the accumulation of copper in various organs and tissues, mostly in the liver and basal ganglia. Wilson’s disease can occur…
Alzheimer’s disease is a progressive form of senile dementia, leading to a complete loss of cognitive abilities, developing mainly after 60-65 years. Clinically manifested by a gradual and constantly progressive disorder of cognitive abilities: attention, memory, speech, praxis, gnosis, psychomotor coordination, orientation and thinking. The diagnosis of Alzheimer’s disease allows a thorough collection of anamnesis,…
Alpers disease is a rare mitochondrial disease characterized by progressive encephalopathy in combination with cirrhosis of the liver. Pathology occurs due to mutation of DNA gamma polymerase (POLG1). The syndrome is manifested by epileptic seizures, depression of psychomotor functions, toxic liver damage. For diagnosis, EEG, MR brain scanning, liver ultrasound, as well as laboratory tests…
