Diseases of children (pediatrics)

Syndactyly: causes, symptoms, diagnosis, treatment

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

Congenital malformations of the upper limbs

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

Examination of children with metabolic syndrome

Group of health in children and adolescents with metabolic syndrome, depending on the degree of severity of clinical markers of the disease - III or IV, V. When choosing a profession, all types of intellectual work, as well as work as a laboratory assistant, draftsman, fitter. You can not work with occupational hazards (noise and vibration), with the prescribed pace of work (conveyor), do not show work in forced positions, at night shifts. Contraindicated work associated with stress and business trips.

Metabolic syndrome in children

Metabolic syndrome is a symptomatic complex of metabolic, hormonal and psychosomatic disorders, 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 girl of 14 years.

Mucopolysaccharidosis, type VII: causes, symptoms, diagnosis, treatment

Mucopolysaccharidosis VII is an autosomal recessive progressive disease resulting from a decrease in the 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 genes encoding galactose-6-sulphatase (N-acetylgalactosamine-6-sulfatase) that participates 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 disease characterized by severe or mild clinical symptoms; is similar to the Hurler syndrome, but differs from it with a reserved intellect.

Mucopolysaccharidosis type 3

Mucopolysaccharidosis, type III - genetically heterogeneous group of diseases inherited by autosomal recessive type. There are four nosological forms that differ in the degree of manifestation of clinical manifestations and the primary biochemical defect.

Mucopolysaccharidosis, type II: causes, symptoms, diagnosis, treatment

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

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