A5025763433- Platelet Disorders and Treatments
- Blood groups and transfusion
- Venous Thromboembolism Diagnosis and Management
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Blood disorders and treatments
- Blood Coagulation and Thrombosis Mechanisms
- Blood properties and coagulation
- COVID-19 Clinical Research Studies
- Heparin-Induced Thrombocytopenia and Thrombosis
- Long-Term Effects of COVID-19
- Hemophilia Treatment and Research
- SARS-CoV-2 and COVID-19 Research
- Antiplatelet Therapy and Cardiovascular Diseases
- Renal Diseases and Glomerulopathies
- Immunodeficiency and Autoimmune Disorders
- Acute Myocardial Infarction Research
- Ultrasound in Clinical Applications
- Complement system in diseases
- Intensive Care Unit Cognitive Disorders
- Radiation Detection and Scintillator Technologies
- Neutrino Physics Research
- Atrial Fibrillation Management and Outcomes
- Adolescent and Pediatric Healthcare
- Cellular transport and secretion
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
Moscow Clinical Scientific Center
2025
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
2018-2024
Kuban State Agrarian University
2023
Ministry of Health of the Russian Federation
2018-2023
Institute for Nuclear Research
2023
Moscow Institute of Physics and Technology
2023
Moscow Power Engineering Institute
2023
Regeneron (United States)
2015-2022
Hunter College
2009
Abstract Background Germline TP53 gene variants are intricately linked to Li-Fraumeni syndrome, a rare and aggressive hereditary cancer syndrome. This study investigated the frequency spectrum of pathogenic associated with syndrome in large cohort mainly breast patients from Russia. Methods The analyzed 3,455 genomic DNA samples using next-generation sequencing panels whole-genome sequencing. Clinically significant were identified validated Sanger clinical family history characteristics...
In a survey of 20 knockout mouse lines designed to examine the biological functions large intergenic non-coding RNAs (lincRNAs), we have found variety phenotypes, ranging from perinatal lethality defects associated with premature aging and morphological functional abnormalities in lungs, skeleton, muscle. Each mutant allele carried lacZ reporter whose expression profile highlighted wide spectrum spatiotemporal tissue-specific transcription patterns embryos adults that informed our phenotypic...
The microtubule-associated protein tau is an abundant component of neurons the central nervous system. In Alzheimer's disease and other neurodegenerative tauopathies, found hyperphosphorylated aggregated in neurofibrillary tangles. To obtain a better understanding cellular perturbations that initiate pathogenesis, we performed CRISPR-Cas9 screen for genetic modifiers enhance aggregation. This initial yielded three genes, BANF1, ANKLE2, PPP2CA, whose inactivation promotes accumulation...
The ability of platelets to carry out their hemostatic function can be impaired in a wide range inherited and acquired conditions: trauma, surgery, inflammation, pre-term birth, sepsis, hematological malignancies, solid tumors, chemotherapy, autoimmune disorders, many others. Evaluation this impairment is vitally important for research clinical purposes. This problem particularly pronounced pediatric patients, where these conditions occur frequently, while blood volume the choice collection...
Immune thrombocytopenia (ITP) is an autoimmune condition primarily induced by the loss of immune tolerance to platelet glycoproteins. Here we develop a novel flow cytometry approach analyze integrin αIIbβ3 functioning in ITP comparison with Glanzmann thrombasthenia (GT) (negative control) and healthy pediatric donors (positive control). Continuous Fura-Red-loaded platelets from whole hirudinated blood was used for characterization responses conventional activators. Calcium levels fibrinogen...
Abstract Diamond–Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, associated with mutations in ribosomal protein (RP) genes. Growing data on non‐RP genes patients DBA‐like phenotype became available over recent years. We describe two the of DBA (onset macrocytic within first year life, paucity erythroid precursors marrow) and germline de novo variants TP53 gene. Both transfusion independent, probably due to L‐leucine therapy. The possible role should be considered no RP
Rab proteins are small GTPases required for vesicle trafficking through the secretory and endocytic pathways. GDP-dissociation inhibitor (rab-GDI) regulates protein function localization by maintaining in GDP-bound conformation. Two isoforms of rab-GDI present most mammalian cells: GDI-1 GDI-2. It has recently been demonstrated that a Heat shock 90 (Hsp90) chaperone complex interactions between Rab-GDI-1. The AR42J cell line is derived from rat pancreatic exocrine tumor cells develops an...
Childhood essential thrombocythemia (ET) is a rare chronic myeloproliferative disorder. The quality of life ET patients may decrease as result ischemic and hemorrhagic complications unclear origin. Our goal was to characterize the hemostatic system in children with ET. We genotyped investigated blood samples from 20 prospective case series study using platelet aggregation, functional flow cytometry (FC) assay standard clotting assays. Three had JAK2V617F mutation, 4 mutations CALR 13 were...
Abstract Immune thrombocytopenia (ITP) is believed to be associated with platelet function defects. However, their mechanisms are poorly understood, in particular regard differences between ITP phases, patient age, and therapy. We investigated bleeding children either persistent or chronic ITP, without romiplostim The study included 151 of whom 56 had disease duration less than 12 months (grouped together as acute/persistent) 95 were chronic. Samples 57 healthy used controls, while 5...
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Platelets perform numerous important functions not only in the process of normal functioning hemostatic system, but also other physiological processes, such as: vessel wall integrity regulation, wound healing, inflammatory response. Its malfunction can be found various diseases and conditions (including oncohematological disorders, solid tumors, diseases, sepsis, autoimmune disorders), is triggered by injury or medications lead to dangerous consequences, as bleeding thrombosis. However,...
Inherited functional platelet disorders (IFPD) are very heterogeneous group of hemorrhagic diseases that difficult to diagnose. Prevalence IFPD in general population is probably underestimated. In most cases cause mild moderate bleeding symptoms everyday life but may result life-threating bleeding after trauma and surgical interventions. Rational diagnostic approach critical prevent these complications. Data on diagnostic algorithms as well benefits disadvantages of specific laboratory...
Even though von Willebrand disease (vWD) is a common bleeding disorder, it comprises some rare types as well. Type 2B vWD usually diagnosed in 3-5% of all cases. The important diagnostic markers this subtype include thrombocytopenia, decreased factor (vWF) activity, increased low-dose ristocetin-induced platelet aggregation, and identification mutations exon 28 the vWF gene. purpose study was to highlight challenges associated with differential diagnosis well demonstrate heterogeneous...
Thrombocytopenia is a common abnormality in neonates. The etiology of neonatal thrombocytopenia ranges from acquired causes such as immune-mediated and sepsis to rare congenital syndromes. There may be objective difficulties identifying the newborns clinical practice. All hematological nonhematological features newborn his family members must taken into account for an accurate diagnosis. In our study, we analysed cohort 52 children with developed period retrospectively assessed range their...
Background. Children and adolescents undergoing treatment in the hospital for blood diseases are at risk of thrombotic complications. However, to date no major studies prevalence thrombosis this category patients have been conducted Russia. The objective: determine incidence symptomatic asymptomatic deep vein (DVT), as well their distribution by gender age children with various disorders. Materials methods. Medical records 1962 patients, aged from 0 17 years, were retrospectively analyzed....
The diagnosis of von Willebrand disease (vWD) in children remains a challenge many regions our country. This encouraged the Russian Hemophilia Society to create, 2019, special diagnostic programme offering remote vWD patients regions. Objectives: An interim evaluation effectiveness for children. study was approved by Independent Ethics Committee and Scientific Council Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology Immunology Ministry Healthcare Federation....
In this paper describes a clinical case of neuroblastoma (NB) retroperitoneal space with massive invasion the renal parenchyma in child 4 years. We discuss relevance timely differential diagnosis Wilms tumor and NB, germinating kidney, as well primary intrarenal NB. Literature data concerning tactics based on symptoms results laboratory instrumental methods research.