Publications by authors named "I Zhanin"
Patients with pancreatic cancer (PC) showing mismatch repair (MMR) deficiency may benefit from immunotherapy. Microsatellite instability (MSI) is a hallmark of MMR deficiency (MMR-D). Here, we estimated the prevalence of MSI in PC, investigated germline and somatic mutations in the three MMR genes (, , and ), and assessed the relationship between MMR genes mutations and MSI status in PC.
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- The study investigates the safety and effectiveness of canakinumab for patients with undifferentiated autoinflammatory diseases (uAIDs), which had not been previously assessed.
- Data from 32 uAID patients were analyzed, revealing a range of symptoms and prior treatments before starting canakinumab, including fever, rash, and various organ involvements.
- Results showed that 84% of patients achieved complete remission, while a smaller percentage had partial or no response to the treatment.
Background: Fabry disease (FD) is a rare hereditary multisystem disease caused by variants of the gene. Determination of gene variants and identification of genotype-phenotype correlations allow us to explain the features of FD associated with predominant damage of one or another system, both in the classical and atypical forms of FD, as well as in cases with late manifestation and involvement of one of the systems.
Methods: The study included 293 Russian patients with pathogenic variants of the gene, which were identified as a result of various selective screening programs.
Successful therapy in a cohort with early onset Danon disease (DD) highlights the potential importance of earlier disease recognition. We present experience from the largest National Pediatric Center in Russia for cardiomyopathy patients. This report focuses on identification of early clinical features of DD in the pediatric population by detailed pedigree analysis and review of medical records.
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- Deficiency of adenosine deaminase 2 (DADA2) leads to various health issues, like systemic vasculitis and red cell aplasia, but the reasons for these different manifestations are not fully understood.
- Researchers aimed to clarify the disease symptoms in DADA2 and understand how different ADA2 gene variants affect the disease.
- The study found that patients with DADA2 have similar inflammation-related gene expressions, and the analyzed ADA2 variants disrupt protein function through several mechanisms, contributing to the clinical diversity seen in patients.