In this chapter, the authors described the actuality of the investigations of neurocognitive dysfunctions in patients with iron deficiency. In infants, the incidence of iron deficiency is 73%; the probability of its transition to iron deficiency anemia is very high. The development of myelin at an early age reduces the production of myelin, and the formation of g-aminobutyric acid worsens the metabolism of dopamine in the striatal brain, which leads to slowing of motor function and behavioral problems in the child. Children with iron deficiency conditions are prone to developmental delays, reduced school performance, and behavioral disorders. In older adults, cognitive dysfunctions depend on complications of the vascular nature, complicated by comorbid iron deficiency. Concomitant pathology also influences iron homeostasis. The regulating mechanisms of iron deficiency, as the same cognitive deficiency, despite the age involve more than 200 proteins from iron homeostasis, appropriate cofactors: derivatives of vitamin B, copper, manganese, zinc ions, enzymes, cell growth factors, etc. All these partners could influence separately or together to the development of iron deficiency and a complication of it neurocognitive dysfunctions. The combination of iron deficiency anemia and iron deficiency with comorbid pathology often exacerbates cognitive problems and requires a weighted approach to the choice of therapeutic correction tactics.

Introduction.This study focuses on topical issues of etiopathogenesis, clinic and treatment of radiation injuries of hard dental tissues in patients who completed antitumor therapy.Review of literature data.In the course of reviewing both domestic and foreign sources of literature covering certain aspects of the problem, the authors formulate the principles of the differential diagnosis of radiation caries, prevention and treatment specificity.Results.The studies were performed at the TRSC “Russkoe Pole” from January 2017 to August 2018 (the median is 20 months). A group of 2005 patients who received radiation therapy for the treatment of hemoblastosis, solid tumors, including for the purpose of consolidation before the hematopoietic stem cell transplantation, was selected. The most severe lesions of the dentition were detected in 74 (3.2 %) patients during the rehabilitation period, mainly with tumors of the central nervous system: radiation caries, trisism, adentia. Radiation caries is a common complication of radiation therapy in the treatment of malignant neoplasms in children and adolescents.Conclusion.The severity of radial caries is determined by the local dose and age of the patients at the time of exposure.Conflict of interest. The authors declare no conflict of interest.Funding. The study was performed without external funding.

Cancer predisposition syndromes (CPSs) account for 8.5–18% of all childhood cancer cases. Most of them are inherited in an autosomal dominant pattern; consequently, there is a 50% risk of transmission to offspring. Early detection of CPSs is crucial for choosing patient treatment strategies and for counseling in the family. This study enrolled 886 pediatric patients with hematologic and solid neoplasms from prospective and retrospective cohorts (2018–2025). Clinical exome or multigene panel sequencing was used to analyze blood DNA. Overall, 186 pathogenic/likely pathogenic (PLP) variants in cancer-associated genes were identified in 176/886 (20%) of patients, and the most frequently mutated were the NF1 (n = 35) and TP53 (n = 18) genes. Among the 186 PLP variants, 126/886 (14.2%) were causative for pediatric neoplasms, while 56/886 (6.3%) were heterozygous mutations associated with adult-onset CPSs affecting DNA repair. The highest total mutation rate was revealed in retinoblastoma (80%), peripheral nerve sheath tumors (60%), and pheochromocytoma/paraganglioma (47%), while the lowest rate was found in hematologic malignancies (4.6%) and neuroblastoma (12%). The wide range and high frequency of deleterious variants in pediatric patients, especially in those with solid tumors, highlights the importance of multigene panel sequencing for the accurate determination of CPSs.

Актуальность представленного обзора обусловлена высокой частотой нейрофиброматоза 1 типа (NF1) и нейрофиброматоз 2 типа (NF2) в популяции и частой ассоциацией с развитием злокачественных новообразований. Целью подготовки обзора является анализ данных литературы, которые описывают результаты применения таргетных препаратов лечения новообразований у пациентов с нейрофиброматозом Результатами литературного поиска стало обобщение современных подходов к проведению таргетной терапии нейрофброматоза как NF1, так и NF2 типов. Представлены данные о фармакогенетике и принципах этиопатогенетической терапии с использованием следующих препаратов таргетной терапии: бевацизумаб, эрлотиниб, иматиниб, сорафениб., сиролимус. Сводная таблица с результатами обзора содержит сведения из 39 литературных источников. По мнению большинства авторов, инновационная таргетная терапия нейрофиброматоза может оказаться эффективной у многих пациентов с распространёнными формами заболевания.

Wilms tumor (WT), the most common kidney neoplasm in children, is closely associated with hereditary factors. This study included 134 WT patients (62 males, median age of 7 years, age at diagnosis of 24.9 months) with unilateral (n = 90, 67%) or bilateral WT (n = 44, 33%). Genetic testing was performed using targeted sequencing of 415 genes and multiplex ligation–dependent probe amplification (MLPA). Twenty-five mutations in eight genes were found in 17% (n = 23) of patients: WT1 (n = 10), TRIM28 (n = 4), REST (n = 3), CHEK2 (n = 3), BRCA2 (n = 2), NF1 (n = 1), RAD50 (n = 1), and CDC73 (n = 1). Large deletions of the 11p13 region were revealed in 6% (n = 5) of patients. The 11p15 locus methylation was studied in blood, tumor, and healthy kidney tissue of nine patients suspected of Beckwith–Wiedemann syndrome (BWS) using methylation-sensitive MLPA (MS–MLPA). BWS was diagnosed in 3% (n = 4) of cases (one patient had mosaic disease). Thus, genetic and epigenetic aberrations were identified in 32 WT patients (24%). These patients had a higher frequency of bilateral WT and a higher rate of abnormalities compared to patients without aberrations (56% vs. 25%, p = 0.002; and 86% vs. 25%, p < 0.0001, respectively). The detection of WT hereditary predisposing factors is crucial for treatment strategies and long-term patient surveillance.