A5075690144- Lysosomal Storage Disorders Research
- Liver Diseases and Immunity
- Liver Disease Diagnosis and Treatment
- Carbohydrate Chemistry and Synthesis
- Trypanosoma species research and implications
- Studies on Chitinases and Chitosanases
- Trace Elements in Health
- Inflammatory Bowel Disease
- Glycosylation and Glycoproteins Research
- Diabetes and associated disorders
- Biochemical and Molecular Research
- Immune Cell Function and Interaction
- Eosinophilic Esophagitis
- Glycogen Storage Diseases and Myoclonus
- Metabolism and Genetic Disorders
- Transgenic Plants and Applications
- Aluminum toxicity and tolerance in plants and animals
- Heavy Metal Exposure and Toxicity
- Peroxisome Proliferator-Activated Receptors
- Vitamin C and Antioxidants Research
- Immune Response and Inflammation
- Autoimmune and Inflammatory Disorders Research
- Vascular Malformations and Hemangiomas
- Histiocytic Disorders and Treatments
- T-cell and Retrovirus Studies
Center for Children
2022-2025
Ministry of Health of the Russian Federation
2017-2024
Scientific Center of Children's Health
2016-2024
Pirogov Russian National Research Medical University
2016-2020
This ar ticle presen t s da ta on the epidemiology, pathogenesis, modern classi f ica tion and main clinical mani festat ions of Gauche r disease i n chi ldr e . The c ia o di ff nt l diag osis wi h he diseases a give I has b ee show at y effecti ve method trea ting Gaucher is pathogenetic enzyme replacemen ther apy, which relieves ma es tat io disease, imp ovi g qua pa ie d hou havi p ou ced side ec s. mai error diagnosis managemen ti en s, as well un justif ied prescriptions for treatment...
Introduction. The chronic course of autoimmune hepatitis requires long-term immunosuppressive therapy, which can lead to side effects such as impairement bone mineral density (BMD). Currently, there are no data assessing mineralization in children with hepatitis. Aim. To determine the by densitometry and remodelling biochemical markers Materials methods. study included 41 child 18 patients were diagnosed for first time received treatment before admission, 15 took glucocorticosteroids up 6...
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научный биометрический журнал, который знакомит читателя с клиническими рекомендациями и особенностями применения лекарственных вакцинных средств у детей, предоставляет исчерпывающую информацию о воздействии на плод, проводимых в
Glycogen storage disease (GSD) is a rare condition that changes the way body uses and stores glycogen. Objective: to evaluate content of small populations lymphocytes their ratios in children with hepatic forms glycogen depending on stage liver fibrosis. 148 GSD at age Me=7,7 [3,9;11,8] were examined. The comparison group consisted 54 healthy children. fibrosis was carried out FibroScan F502 device (EchoSence, France). Immunophenotyping performed CYTOMICS FC500 (Beckman Coulter, USA)....
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Background: Registers are an effective tool for tracing the dynamics of patients with rare pathologies. Objective: Our aim was to examine demographic, clinical and genetic features child Gaucher disease in Russia. Methods: We held a retrospective survey pediatric register data regard children suffering from disease. The period accounting 2006 2016. Results: 115 aged 3 months 17 years (the median age diagnosis is 5 years) were registered; 62 them (53.9%) girls. prevalence 0.32 cases 100,000...
Gaucher disease (GD) is an autosomal recessively inherited that belongs to the group of lysosomal storage diseases. In GD, there chronic activation macrophage system, disruption regulatory functions macrophages, a shift in cytokine regulation towards pro-inflammatory cytokines and development inflammation involving all immune cells, which can lead changes composition both major minor populations lymphocytes. Reduced beta-glucocerebrosidase activity impairs normal function autophagy, leading...
Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease characterized by esophageal dysfunction due to prolonged eosinophilic infiltration of tissues. In recent years, there has been tendency increase the prevalence EoE, which may lead an in detection strictures children. Aim: determine clinical features phenotype with outcome stenosis Materials and methods. Seventy children diagnosed EoE were examined, 9 (12.86%) them had stenosis. The average age manifestation was 6.17 years....
Autoimmune hepatitis (AIH) is a progressive hepatocellular inflammation of unknown etiology, accompanied by the process liver fibrosis. Damage in associated with formation highly reactive molecules that contain unpaired electrons (free radicals), which turn induce lipid peroxidation, leading to development mitochondrial dysfunction. Mitochondrial DAMPs released from damaged hepatocyte mitochondria (with mtDNA as main active component) directly activate hepatic stellate cells and cause...
In recent decades, there has been an increase in the incidence of autoimmune diseases (AID) among adults and children. The immunopathogenesis AID is based on imbalance between autoaggressive regulatory cells (Tregs), which regulated by metabolic signaling pathways cytokine microenvironment. Understanding mechanisms immunometabolism opens up new possibilities for treatment patients with AID. aim was to evaluate activity lymphocyte dehydrogenases associated OXPHOS glycolysis, depending level...
Ulcerative colitis is a chronic relapsing inflammatory disease of the colon with continuous spread lesions from rectum in proximal direction. The etiology unknown, but it assumed to be developed as result combination several factors. clinical picture often similar intestinal infection, which complicates timely diagnosis disease, especially children. Refractory standard therapy limits therapeutic options and increases frequency surgical interventions. However, emergence new drugs, such...
Liver diseases cause about 2 million deaths per year worldwide, with cirrhosis accounting for 2.1% of this number. The cytokine and chemokine balance determines outcomes immune response. Many cytokines are involved in progression control various liver via regulation cellular activity. Our aim was to assess the level circulating chemokines depending on stage fibrosis children chronic diseases. 51 were examined (32 autoimmune hepatitis, 12 Wilson’s disease, 5 Gaucher disease glycogen storage...
Objective. To evaluate the clinical course of Wilson’s disease (WD) and effectiveness a scoring algorithm for diagnosis in children with early onset disease. Patients methods. Data from 85 case histories WD observed at National Medical Research Center Children’s Health between 2012 2023 were retrospectively analyzed. Results. Clinical laboratory manifestations age 5 years under 36 children. The mean ransaminase level was 128 U/L alanine aminotransferase 82 aspartate aminotransferase....
Metabolic aberrations underlie many chronic diseases, including autoimmune diseases (AUD). Immune metabolism is an area of immunological research that actively developing and studying the processes metabolic reprogramming in immune cells. The regulation nuclear factor kappa B (NF-κB) activity, which involved coordination innate adaptive immunity, inflammatory reactions other processes, being studied. studies on NF-κB a promising direction searching for new therapeutic approaches AUD...
The current gold standard for the treatment of Gaucher disease type 1 in children is enzyme replacement therapy. efficacy and safety with velaglucerase alfa have been assessed only a few large studies involving pediatric patients as subjects research. In Russian literature, there are no data available on use drug-naïve 1. aim our study was to assess approved by Independent Ethics Committee Scientific Council National Medical Research Center Children's Health Ministry Healthcare Federation....
Eosinophilic esophagitis (EoE) is a multifactorial disease characterized by variable clinical manifestations and varying responses to therapy, especially in pediatric patients. The purpose of this research was analyze the results EoE various treatment methods children. Materials used: single-center retrospective cohort study conducted 2020-2023 that included patients from 6 y/o 17 years 11 months old whose condition assessed when verifying diagnosis after prescribing therapy at least once....
Background: Today the gold standard for treatment of Gaucher’s disease (GD) is an enzyme replacement therapy (ERT) which allows to stop main clinical manifestations and improve quality life in patients. In Russian pediatric practice, there are no publications assess effects long-term ERT children with GD type 1.Aim: To evaluate effectiveness imiglucerase 1 child population Federation.Materials methods: An evaluation was carried out by analyzing monitoring data 60 patients who were entered...
Background. Inflammatory bowel diseases (IBD) often occur with hepatobiliary system involvement, including autoimmune ones. The role of IBD in development and severity liver fibrosis children remains unknown. Objective . aim the study is to correlation presence fibrotic changes its malfunction at disorders children. Methods. included patients hospitalized isolated (control group) (HBD) (autoimmune hepatitis, primary sclerosing cholangitis, overlap syndrome, biliary cholangitis) or...
The pathology in WilsonConovalov disease (WCD) results from impaired excretion of copper, thus leading to its excessive accumulation tissues. Hypercupreniluria is characteristic the WCD. Toxic effects copper on liver tissue can manifest as fatty degeneration hepatocytes, hepatitis, fibrosis and cirrhosis. Purpose present work was follows: estimation immune status children with WD depending stage fibrosis. Fifty-three patients WCD aged 6 18 years, were examined. assessed by transient...
научный биометрический журнал, который знакомит читателя с клиническими рекомендациями и особенностями применения лекарственных вакцинных средств у детей, предоставляет исчерпывающую информацию о воздействии на плод, проводимых в
<h3>Background</h3> Registers are an effective tool for tracing the dynamics of patients with rare pathologies. <h3>Objective</h3> Our aim was to examine demographic, clinical and genetic features children Gaucher disease in Russia. <h3>Methods</h3> We held a retrospective survey paediatric register data regard suffering from disease. The period accounting 2006 2016. Results: 115 aged 3 months 17 years (the median age diagnosis is 5 years) were registered; 62 them (53.9%) girls. prevalence...