Publications by authors named "B Malicherova"

Article Synopsis
  • Malignant melanoma (MM) has numerous genetic changes and a quick spread, making it important to find new plasma biomarkers for easier diagnosis and monitoring.
  • The study investigated copy number variations (CNVs) in CDK genes and other specific genes through various genetic analyses, but found that CDK genes were not significant as biomarkers in plasma samples of MM patients compared to healthy individuals.
  • Despite the lack of significance for CDK genes, the analysis did identify common CNV regions in the genome, suggesting that the gene DIP2C could be promising for further research in liquid biopsy applications.
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Vitamin D deficiency is involved in the pathogenesis of multiple sclerosis (MS), a severe autoimmune demyelinating disease of the central nervous system. The gene polymorphism Cdx-2 (rs11568820, G/A) seriously influences the trancriptional activity of the vitamin D receptor (VDR) that binds the vitamin D responsive elements of target genes including HLA-DRB1*15. The aim of the present study in Slovaks was to analyse the association of Cdx-2 variants with the risk of MS and disability progression, and to assess the DRB1*15:01 allele as a possible confounding factor.

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Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) monitoring in air traffic is important in the prevention of the virus spreading from abroad. The gold standard for SARS-CoV-2 detection is RT-qPCR; however, for early and low viral load detection, a much more sensitive method, such as droplet digital PCR (ddPCR), is required. Our first step was to developed both, ddPCR and RT-qPCR methods, for sensitive SARS-CoV-2 detection.

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The authors present a rare case of a patient with telangiectasia macular eruptiva perstans, with confirmed D816V mutation which later progressed to systemic mastocytosis confirmed by trepanobiopsy. First-line treatment - phototherapy - had to be stopped, and systemic treatment with interferon alpha-2a was initiated. The treatment was successful with regression of skin lesions as well as mast cell infiltrates in the bone marrow.

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Background: Nowadays, modern treatment methods for cancer patients are based on targeting specific molecules involved in cellular signaling system associated with tumor initiation and progression. The success of such approach depends on a correctly chosen dia-gnostic test with high sensitivity that identifies the occurrence and level of bio-markers in patients to select those who will respond and benefit from the treatment. The development of new technologies and the upgrades of the known ones contribute to the innovations in molecular characterization of cancer, which allows the detection of patients mutational status with high sensitivity and specificity.

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