Publications by authors named "O Boyarchuk"

Introduction: Magnesium is involved in numerous reactions that regulate the functioning of different organs and systems. Hypomagnesemia impacts on the development of various metabolic disorders, including insulin resistance and diabetes mellitus (DM). Studying magnesium levels in children with type 1 DM is crucial, as deficiencies are linked to many diabetes complications.

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Introduction: Developmental delay (DD) in children is often caused by genetic abnormalities, which are challenging to diagnose due to the vast genetic variability.

Methods: This study presents a detailed analysis of whole-exome sequencing (WES) on 90 children with DD at a single clinical center.

Results: We identified pathogenic or likely pathogenic variants in 27.

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Systemic autoinflammatory diseases caused by dysregulation of the innate immunity are a known cause of recurrent fevers. We present the molecular diagnosis results of 12 children with recurrent fever, analyzing the correlation between molecular findings and clinical symptoms. No pathogenic variants confirming autoinflammatory disease were found.

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Article Synopsis
  • Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder primarily affecting Slavic populations, particularly in Ukraine, and is marked by symptoms such as microcephaly, immunodeficiency, and impaired DNA repair.
  • A study of 84 NBS patients from Ukraine revealed that about 65.5% were alive, with a median age of 11 years; the prevalence of NBS diagnoses has shown a recent increase, especially from central and southeastern regions of the country.
  • Clinical findings indicated that most patients experienced delayed physical development and infections, with malignancies (especially lymphomas) being a significant cause of death; immunological analysis showed reduced CD4+, CD19+, and immunoglobulin levels in the
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Objectives: The aim of the study was to establish an international multicenter registry to collect data on patients with Multisystem Inflammatory Syndrome in Children (MIS-C), in order to highlight a relationship between clinical presentation, age of onset and geographical distribution on the clinical outcome.

Study Design: Multicenter retrospective study involving different international societies for rare immunological disorders.1009 patients diagnosed with MIS-C between March and September 2022, from 48 centers and 22 countries were collected.

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