Smith-Magenis syndrome is a rare genetic disease that occurs when the short arm of the 17th chromosome is micro—damaged. Pathology is manifested by multiple congenital malformations, among which anomalies of the facial skeleton predominate, as well as intellectual disabilities, various behavioral features. Molecular genetic testing, neurological examination, and instrumental imaging methods are prescribed for the…
Children born from frozen embryos have an increased risk of tumors. This conclusion was reached by scientists from the University of Gothenburg in Sweden. Embryo freezing procedure has gained huge popularity in recent years. With its help, many women postpone pregnancy and childbirth to a later date in order to focus on a career or…
Sanfilippo syndrome (mucopolysaccharidosis III) is a genetic disease from the group of mucopolysaccharidoses that occurs due to point mutations and is characterized by a violation of glycosaminoglycan metabolism. Pathology is manifested by progressive delay of psychorechological development, multiple behavioral disorders, gross motor disorders. To diagnose the syndrome, a study of the level of certain enzymes…
Roussy-Levy syndrome is a hereditary disease from the group of motor sensory neuropathies, which according to some ideas is a phenotypic variant of Charcot—Marie-Tut amyotrophy. The main symptoms include sensitive ataxia, weakness and hypotrophy of the muscles of the distal extremities (mainly the lower ones), tendon areflexia. When establishing a diagnosis, they rely on the…
Rubinstein-Tabi syndrome is a genetically heterogeneous (according to recent data) hereditary disease characterized by damage to the central nervous system, deformities of the bones of the skeleton and a number of other malformations. Symptoms of this condition are progressive mental retardation, low growth, dilation of the phalanges of the fingers, polydactyly on the legs, various…
Robinow syndrome is an orphan hereditary disease characterized by growth retardation with multiple phenotypic abnormalities. Pathology occurs with autosomal recessive and autosomal dominant inheritance of mutations. The disease is characterized by mesomelic dwarfism, pathognomonic congenital malformations of the facial structure, lag in development. For diagnostic purposes, special molecular genetic studies are carried out, various imaging…
Rett syndrome is a genetic disease characterized by impaired development of the nervous system due to the lack of inhibition of certain genes. Manifestations of this condition are progressive mental retardation in girls (with extremely rare atypical forms – and in boys), muscular hypotension, ataxia, curvature of the spine. The diagnosis of Rett syndrome is…
Russell–Silver syndrome is a rare genetic disorder characterized by intrauterine growth retardation and postnatal stunting. Other phenotypic markers of the syndrome are macrocephaly, a triangular face, a violation of the proportions of the body, clinodactyly, pigmented spots on the skin. At the diagnostic stage, clinical symptoms are taken into account, endocrine function is examined, bone…
Riley-Day syndrome is a severe, genetically determined sensory-autonomic neuropathy. The symptom complex includes a combination of dysphagia, vomiting, decreased surface sensitivity, autonomic dysfunction, ataxia, insufficient secretion of lacrimal fluid. To diagnose Riley-Day syndrome, it helps to conduct a histamine test and DNA analysis, the exclusion of other pathology using neurosonography or MRI. The therapy is…
The study showed that heart attacks in women can be treated using artificial intelligence. Heart attacks are considered the most common causes of death in developed countries, and women die from them more often than men. It’s all about the symptoms, because in men, heart attacks are manifested by classic chest pains that spread to…