Diseases of children (pediatrics)

Syndactyly: causes, symptoms, diagnosis, treatment

Syndactyly is a congenital malformation of the hand, consisting of the fusion of two or more fingers with a violation of the cosmetic and functional state. This anomaly is sometimes observed in isolation, in which case the malformation can be considered a diagnosis. In these cases, the fingers are fully developed, but there is a soft tissue or bone fusion between them.

Congenital anomalies of the upper extremities

I.V. Shvedovchenko (1993) developed a classification of congenital malformations of the upper limbs, and the author systematized and presented in the form of a table all forms of underdevelopment according to teratological series. The basic principles, strategy and tactics of treating congenital malformations of the upper limbs were developed.

Examination of children with metabolic syndrome

Health group of children and adolescents with metabolic syndrome depending on the severity of clinical markers of the disease - III or IV, V. When choosing a profession, all types of intellectual work are recommended, as well as work as a laboratory assistant, draftsman, mechanic. It is forbidden to work with occupational hazards (noise and vibration), with prescribed work rates (conveyor belt), work in forced positions, on night shifts is not recommended. Work associated with stress and business trips is contraindicated.

Metabolic syndrome in children

Metabolic syndrome is a symptom complex of metabolic, hormonal and psychosomatic disorders, which are based on abdominal-visceral (central) obesity with insulin resistance and compensatory hyperinsulinemia.

Mucopolysaccharidosis type IX: causes, symptoms, diagnosis, treatment

Mucopolysaccharidosis type IX is an extremely rare form of mucopolysaccharidosis. To date, there is a clinical description of one patient, a 14-year-old girl.

Mucopolysaccharidosis type VII: causes, symptoms, diagnosis, treatment

Mucopolysaccharidosis VII is an autosomal recessive progressive disease resulting from decreased activity of lysosomal beta-D-glucuronidase, which is involved in the metabolism of dermatan sulfate, heparan sulfate and chondroitin sulfate.

Mucopolysaccharidosis type IV

Mucopolysaccharidosis IV is an autosomal recessive progressive genetically heterogeneous disease that occurs as a result of mutations in the genes encoding galactose-6-sulfatase (N-acetylgalactosamine-6-sulfatase), which is involved in the metabolism of keratan sulfate and chondroitin sulfate, or in the beta-galactosidase gene (this form is an allelic variant of Gml gangliosidosis), leading to the manifestation of mucopolysaccharidosis IVA and mucopolysaccharidosis IVB, respectively.

Mucopolysaccharidosis type VI: causes, symptoms, diagnosis, treatment

Mucopolysaccharidosis type VI is an autosomal recessive disorder characterized by severe or mild clinical symptoms; it is similar to Hurler syndrome but differs from it in that intelligence is preserved.

Mucopolysaccharidosis type 3

Mucopolysaccharidosis type III is a genetically heterogeneous group of diseases inherited in an autosomal recessive manner. There are four nosological forms, differing in the severity of clinical manifestations and primary biochemical defect.

Mucopolysaccharidosis type II: causes, symptoms, diagnosis, treatment

Mucopolysaccharidosis type II is an X-linked recessive disorder resulting from decreased activity of lysosomal iduronate-2-sulfatase, which is involved in the metabolism of glycosaminoglycans. Mucopolysaccharidosis II is characterized by progressive psychoneurological disorders, hepatosplenomegaly, cardiopulmonary disorders, and bone deformities. To date, two cases of the disease in girls have been described, associated with inactivation of the second, normal, X chromosome.