Experts have found that dietary supplements with vitamin D are unlikely to prevent infection with COVID-19 or other respiratory infections. Even if the vitamin level in the blood of a person is low. Two large-scale studies conducted at the height of the pandemic showed that dietary supplements with vitamin D are unlikely to provide additional…
Tyrosinemia is a rare hereditary disease from the group of amino acid metabolism disorders that occurs due to the lack of enzymes necessary for the biochemical transformations of tyrosine. Pathology is manifested by severe liver damage, blood clotting disorders, neurological complications and developmental delay. Diagnostics includes specific biochemical analyses, genetic tests, instrumental imaging (ultrasound of…
Spondyloepiphyseal dysplasia is a genetically heterogeneous hereditary disease from the group of osteochondropathies characterized by malformations of the vertebrae, epiphyses of long tubular bones and joints. Symptoms of this condition are low growth, deformities of the vertebral column (kyphosis) and chest, soreness and stiffness of large joints. Diagnosis of spondyloepiphyseal dysplasia is based on the…
Spinocerebellar ataxia is a group of genetically heterogeneous hereditary diseases of a neurological nature, which are manifested by various disorders of the cerebellum and sometimes the basal nuclei of the brain. Symptoms of this condition are: the development of ataxia and unstable gait, impaired coordination of movements and other neurological manifestations. The diagnosis of spinocerebellar…
Shwachman-Diamond syndrome is a genetic pathology manifested by secretory insufficiency of the pancreas, bone marrow disorders and serious hematological changes. The first symptoms (diarrhea, flatulence, decreased appetite, dystrophy, skeletal deformity, anemia, etc.) are recorded at 5-6 months during the introduction of complementary foods. The main diagnostic measures: biochemical and general analysis of blood and feces,…
Chediak-Higashi syndrome is one of the forms of congenital immunodeficiency, which is characterized by a phagocytosis defect and oculocutaneous albinism. The disease has an autosomal recessive inheritance mechanism and occurs with various types of LYSR/CHS1 mutations. Clinically, the pathology is manifested by discoloration of the hair and iris of the eyes, recurrent bacterial and fungal…
Holt-Oram syndrome is a rare hereditary pathology characterized by morphological abnormalities of the upper extremities, various congenital heart defects. It occurs due to a gene mutation TBX5, inherited by autosomal dominant type. To diagnose Holt-Oram syndrome, an X-ray examination of the hand, echocardiography and electrocardiography are prescribed, the presence of the mutation is confirmed by…
Freeman-Sheldon syndrome is a rare disease with different types of inheritance, which is characterized by damage to the musculoskeletal system. Pathological changes are caused by a mutation of MYH3 on the short arm of chromosome 17. The disease is manifested by multiple contractures of the joints, deformity of the facial skeleton, ulnar deviation of the…
Usher syndrome is a rare genetic disease that occurs with congenital sensorineural hearing loss, progressive retinitis pigmentosa and vestibular ataxia. Depending on the type of syndrome, the following signs are present in patients: significant hearing loss or deafness, decreased vision, imbalance, cognitive disorders. Diagnostics includes ophthalmological (visometry, ophthalmoscopy, electroretinography), otoneurological (audiometry, vestibular tests), genetic examination.…
Ondine curse is an extremely rare genetic disease characterized by a violation of autonomous breathing as a result of an abnormal reaction of the body to hypercapnia during sleep. The main symptom of this condition is apnea during the deep sleep phase, which can lead to a fatal outcome, while any pathological changes from the…
