Sökresultat - T. V. Podkletnova

This review describes basic aspects of neurological pathology in children with juvenile rheumatoid arthritis. Results of reviewed trials show that neurological and cognitive disorders, presenting in patients with juvenile rheumatoid arthritis, worsen patient’s quality of life and need to be correcte...

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Headache is the more often seen complaint in patient with rheumatoid arthritis (RA) at the visit to the neurologist. The objective of this study is analysis of headaches in children with different types of RA. 166 patients with different types of rheumatoid arthritis were examined, 65 (39,1%) childr...

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The article is dedicated to the issue of gastroesophageal reflux treatment in infants with neurological disorders, which remains insufficiently studied and unsettled. Bronchopulmonary complications in patients with gastroesophageal reflux are life-threatening, cause frequent aspiration pneumoniae an...

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Leukoencephalopathy with predominant lesion of the brain stem, spinal cord and high blood lactate in the MR spectroscopy is a hereditary disease characterized by slowly progressing cerebellar, pyramidal disorders, disorders involving the lesion of posterior columns of the spinal cord and highly spec...

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Niemann–Pick disease, type C (NP-C), is a rare hereditary neurovisceral disease caused by mutations in either the NPC1 gene (in 95% of cases) or the NPC2 gene (ca. 5% of cases) which lead to the intracellular lipid transport malfunction and accumulation of cholesterol and glycosphingolipids in brain...

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Mucopolysaccharidoses are a group of hereditary metabolic diseases, relating to lysosomal storage disorders and caused by a deficiencyof the enzymes, involved in degradation of glycosaminoglycans (mucopolysaccharides). Severe forms of mucopolysaccharidoses of types I, II and VII and mucopolysacchari...

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Carpal tunnel syndrome (CTS) is a frequent syndrome in adults, but is very rare in children. CTS was described in children with mucopolysaccharidoses (MPS) as condition due to the deformation of carpal bones, deposition of glycosaminoglycans in tendosynovial tissue and connective tissue of flexor re...

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The article present current published data on the incidence rate, pathogenesis, clinical manifestations, diagnosis and treatment oflife-threatening conditions of the cardiovascular system at type I mucopolysaccharidosis (MPS). Mucopolysaccharidosis is a raregenetically determined disease with chroni...

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Fabry disease is a serious degenerative hereditary disorder, which is referred to as a lysosomal storage disease and is a form of sphingolipidosis. Fabry disease often starts in childhood and adolescence, although the complete clinical manifestation occurs in adulthood. Early diagnostic is often dif...

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The current knowledge of the causes and progression of epilepsy in patients with different types of mucopolysaccharidosis are presented. The article discusses the dynamics of electroencephalographic changes with age and in connection with the disease progression.

The paper is devoted to one of the rare genetically determined diseases — mucopolysaccharidosis. Despite the great achievement of science — the development of the pathogenetic enzyme replacement therapy, many challenges remain. Among them — the lack of timely diagnosis, causing delayed treatment and...

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Background. There are limited data on the efficacy of long-term enzyme replacement therapy (ERT) in children with mucopolysaccharidosis (MPS).Objective. Our aim was to study the efficacy and safety of long-term ERT in children with MPS type I, II, and VI.Methods. We analyzed the results of ERT with...

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17 children received cardiorespiratory monitoring in order to evaluate spread and dynamics of changes in the primary obstructive sleep apnea syndrome (OSAS) parameters at type II mucopolysaccharidosis. Mild OSAS [apnea/hypopnea index (AHI) – 1.5-5] was diagnosed in 4 patients (23.5%), moderate OSAS...

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Mucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the lysosomes and further multiple organ dysfunction. T...

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Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms. Researchers distinguish between three phenotypes of the disease: Hurler syndrome...

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Background. Data on the efficacy of enzyme replacement therapy (ERT) in relation to the pathology of ENT organs and respiratory performance in sleep in children with mucopolysaccharidosis (MPS) is poorly presented in the literature. Our aim was to assess the effect of ERT on the upper respiratory tr...

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Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease due to a mutation in the gene encoding dystrophin synthesis. In patients, muscle damage and atrophy progresses, the ability to move independently decreases as well as respiratory and cardiac functions. At various stages of the diseas...

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he authors present the latest data on the hypophosphatasia (HPP) management in children. Hypophosphatasia is a rare genetic disease caused by deficiency of tissue-specific alkaline phosphatase due to mutation in the ALPL gene. The article covers all the features of epidemiology, etiology and pathoge...

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Duchenne muscular dystrophy is one of the most common forms of childhood muscular dystrophies. Its incidence is 1 in 3.5–6 thousand newborn boys according to various sources. The disease is caused by the mutation in the DMD gene coding the dystrophin protein, it leads to the dystrophin absence or ma...

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