Vol 13, No 2 (2022)

The article is devoted to the use of ultrasound diagnostics methods to assess the functional state of the cardiovascular system in critical conditions in children and the choice of optimal hemodynamic support. The need for careful detailed monitoring in patients in pediatric intensive care units has been demonstrated, the low sensitivity and specificity of the currently widely used clinical signs are reflected, which limits their use in the choice of treatment methods. As an alternative, it is proposed to use ultrasound diagnostics that assess cardiac output, allowing you to make an informed decision on medical measures taking into account the current clinical situation. The wide possibilities and numerous advantages of ultrasonic navigation in providing assistance to patients with a wide variety of life-threatening conditions are described. The main advantage is the possibility of obtaining information in real time, directly at the bedside. A clinical case of a target-oriented intensive therapy of left ventricular systolic dysfunction in a nine-year-old child against the background of a septic process using methods of ultrasonic assessment of hemodynamic status is presented. The use of ultrasound imaging methods made it possible to identify the cause of the deterioration of the condition and conduct a reasonable treatment correction, which ensured the fastest regression of hemodynamic disorders and contributed to a favorable outcome of the disease. The simplicity and accessibility of the Teicholz estimate of the ejection fraction was noted, which allows it to be used in routine practice to select the optimal hemodynamic support and assess the effectiveness of treatment over time.

BACKGROUND: Epiglottitis is an acute infectious disease accompanied by edema of the epiglottis, salivation, sore throat, and intoxication. In 95% of cases, the causative agent of epiglottitis in children is Haemophilus nfluenza type b (Hib). The relevance of the problem is that acute epiglottitis of Haemophilus etiology is not a localized, isolated disease of the ENT organs, but can result in development of an epiglottic abscess or phlegmon, as well as of other generalized forms of Hib infection, including sepsis.

AIM: The aim of the study was to assess the incidence of epiglottitis caused by Hib in children and provide its clinical and laboratory characteristics.

MATERIALS AND METHODS: We analyzed 23 cases of epiglottitis caused by Hib in children. The diagnosis was based on clinical and epidemiological data with mandatory verification by bacteriological, serological, and/or molecular biological methods.

RESULTS: Epiglottitis was detected in 23 of 93 children with Hib infection who were treated at the Children’s Municipal Clinical Hospital No. 5 named after N.F. Filatov over the period from 2002 to 2016. Hib etiology of epiglottitis was confirmed mainly by the bacteriological method. All patients were prescribed ceftriaxone, which is the drug of choice for suspected Hib infection. Monotherapy was prescribed in 57% cases; two or more antibiotics were used in other cases (a course of 7–14 days).

CONCLUSIONS: Epiglottitis is a severe, life-threatening disorder being a generalized Hib infection. Patients with epiglottitis should be prescribed antibiotics prior to confirmation of Hib etiology since Hib is the causative agent of epiglottitis in the vast majority of pediatric cases. Multiple methods should be used simultaneously to confirm the diagnosis. Bacteriological blood test made it possible to identify the pathogen in the overwhelming majority of patients. There were no risk factors for Hib infection and no important comorbidity.

BACKGROUND: The problem of atopic dermatitis today remains one of the unsolved problems of pediatrics and pediatric allergology. Among the etiopathogenetic mechanisms of atopic dermatitis, the role of endo-allergens formed as a result of impaired digestion and absorption processes in the gastrointestinal tract of a child is separately noted. In such conditions, the load on the detoxification function of the liver increases. In connection with this circumstance, the study of the functional activity of the liver in children with atopic dermatitis is of particular interest. One of its criteria is the nature of intrahepatic hemodynamics.

AIM: To find out the features of intrahepatic hemodynamics in the development of atopic dermatitis in children.

MATERIALS AND METHODS: 83 children aged 6 months to 5 years with a diagnosis of atopic dermatitis, who made up the main research group, and 33 practically healthy children of the same age, who formed a control group, were examined. The nature of heredity for allergic pathology and morbidity of the gastrointestinal tract was found out in all patients. To obtain information about the functional activity of the liver in all children, hepatic blood flow in the hepatic artery and hepatic vein was studied.

RESULTS: Violation of intrahepatic hemodynamics was revealed in children with atopic dermatitis. The blood flow in the hepatic artery in them was characterized by a decrease, and the blood flow in the hepatic vein was characterized by an increase in speed indicators. The detected violations of intrahepatic hemodynamics in children with atopic dermatitis are regarded by the authors of this study as a manifestation of a decrease in the functional activity of hepatocytes in conditions of increased allergenic load.

CONCLUSIONS: The study clearly demonstrated a violation of the functional state of hepatocytes in children suffering from atopic dermatitis, expressed in the suppression of hepatic hemodynamics. The question of the primary or secondary nature of this violation is the subject of discussion and further scientific research.

Immunotherapy is a promising and rapidly developing method of therapy patients with different oncological pathology. Considering the demonstrated efficacy in the treatment of patients with some solid tumors, as well as low survival rates and the absence of a significant effect in the standard treatment of most patients with glioblastomas, the question of the use of immunotherapy for malignant gliomas of the brain was raised. However, to decision this problem, it is necessary to consider the interaction of the immune system with tumors of this group. The modern view of the interaction of immunity and glioblastoma is presented. Special attention is paid to the mechanisms of tumor escape and suppression of the functional activity of immune system. The current immunotherapeutic approaches in the treatment of patients with glioblastoma are presented. Interaction of glioblastoma with immune system at all the stages of tumor growth is a complex process. While planning the immunotherapy of this pathology it’s necessary to take into consideration all mechanisms used by the tumor cells to avoid the immune response and suppress it. However, the clinical studies of this type of therapy proved to be less successful than expected. Further detailed studies of immune-resistance and escape of gliobloastoma must contribute to working out more effective immunotherapy tactics.

Sphingolipidoses are genetically heterogeneous group of rare monogenic metabolic diseasesб caused by inherreted deficiency of enzymes involved in the degradation of sphingolipids. Sphingolipids are catabolized in lysosomes, where glycohydrolases degrade them by separation of terminal sugars to core ceramide. All sphingolipidoses are characterized by abnormal deposition of a large amount of sphingolipids and other unsplit products of lipid metabolism, mainly in parenchymal organs, bone marrow and brain. Among sphingolipidoses, such groups of diseases as glycosphingolipidoses, gangliosidoses and leukodystrophies are distinguished. This review presents the epidemiology, clinical, biochemical and molecular characteristics of the three main types of glycosphingolipidoses — Fabry disease, Gaucher disease and Farber disease, caused by the mutations in the genes of α-galactosidase A (GLA), glucocerebrosidase (GBA) and acid ceramidase (ASAH1), respectively. Currently, there is an increased interest in glycosphingolipidoses due to the identification of the spectrum and frequencies of mutations in the GLA, GBA and ASAH1 genes in various populations, including Russia, and the practical availability of individual molecular diagnostic methods. A description of the existing experimental models, their role in the study of the biochemical basis of the pathogenesis of these severe hereditary diseases and the development of various therapeutic approaches are given. We discuss, firstly, the possibility of early diagnosis of Fabry disease, Gaucher and Farber based on neonatal screening and examination of high risk groups of patients in order to improve the effectiveness of their prevention and treatment, as well as (secondly) the advantages and disadvantages of the main approaches to the treatment of these serious diseases, such as bone marrow and hematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction therapy, gene therapy and genome editing.

Neuronal ceroid lipofuscinosis is a group of hereditary neurodegenerative diseases inherited by an autosomal recessive trait. This disease is the most common neurodegenerative pathology in children with a prevalence of 1:1,000,000 to 1:14,000 in the world. Currently, 14 genetically different forms of this pathology have been identified, which are characterized by the accumulation of abnormal lipofuscin-like material in the lysosomes of nerve cells, progressive and selective destruction of neurons. In neuronal ceroid lipofuscinosis, there is a defect in the gene that translates various lysosomal enzymes. Due to the insufficiency of the enzyme tripeptidyl peptidase 1, an accumulation of pathological autofluorescent lipopigment is observed in the central nervous system (CNS) of the patient, leading to violations of the normal function of neurons. Clinically, the disease manifests at the age of 3–4 years, in the form of progressive myoclonic epilepsy, mental and motor disorders, delays and stops in development. The article describes data on the prevalence, clinical features and therapy of this pathology, and also presents a clinical case with the onset of the disease in a child aged 2 years 11 months. The clinical case demonstrates the difficulties of diagnosing this pathology due to the rarity of this pathology, a wide range of differential diagnostics, the duration and high cost of molecular genetic studies. An early diagnosing would make it possible to explain the nature of epilepsy, to choose a rational therapy for this disease in a timely manner.