Publications by authors named "V I Zakharova"
Cancer, one of the world's deadliest diseases, is expected to claim an estimated 16 million lives by 2040. Three-dimensional (3D) models of cancer have become invaluable tools for the study of tumor biology and the development of new therapies. The tumor microenvironment (TME) is a determinant of tumor progression and has implications for clinical therapies.
View Article and Find Full Text PDFCongenital hyperinsulinism (CHI) is a rare hereditary disease characterized by the development of hypoglycemia in both infants and adult patients. CHI may be induced by activating mutations in the () gene, which encodes the human glucokinase enzyme. This form of the disease is characterized by considerable phenotypic heterogeneity and may vary in severity of its course.
View Article and Find Full Text PDFWe have identified a new inherited bone marrow (BM) failure syndrome with severe congenital neutropenia (CN) caused by autosomal recessive mutations in the coatomer protein complex I (COPI) subunit zeta 1 (COPZ1) gene. A stop-codon COPZ1 mutation and a missense mutation were found in three patients from two unrelated families. While two affected siblings with a stop-codon COPZ1 mutation suffered from congenital neutropenia (CN) that involves other hematological lineages, and non-hematological tissues, the patient with a missense COPZ1 mutation had isolated neutropenia.
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- Primary hyperparathyroidism (PHPT) is a rare endocrine disorder in children, characterized by excessive parathyroid hormone secretion, leading to elevated blood calcium levels, and may remain undiagnosed due to non-specific symptoms like nausea and abdominal pain.
- A study of 49 children diagnosed with PHPT revealed common initial symptoms including fatigue and pain, with diagnosis occurring around age 15, and high levels of parathyroid hormone and calcium being prevalent among patients.
- Genetic analysis found mutations in about 32.7% of cases, with MEN1 mutations being most common, and many patients also presented with various forms of thyroid adenomas upon surgical examination.
Atrial fibrillation (AF) is the most common heart rhythm disorder in clinical practice. It worsens the quality of life of patients, leads to an increase in the mortality rate because of its association with a high risk of thromboembolic complications. The current pandemic of a new coronavirus infection, which began in March 2020, was marked by an increase in cardiovascular diseases, including an increase in the number of patients with AF.
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