[Pathogenic TSHR variants in children with thyroid dysgenesis].

BACKGROUND: Loss-of-function mutations in the TSH receptor gene (TSHR) (NP_000360.2) are the potential causes of thyroid dysgenesis in patients with congenital hypothyroidism. Heterozygous variants of the TSHR gene lead to partial resistance to TSH, homozygous and compound heterozygous variants have been shown to cause CH due to thyroid hypoplasia or TSH resistance. Recently more and more articles in this field have appeared in the international literature sources, while local publications are limited. The studies are necessary to understand the etiology, pathogenesis of the disease, to improve the management of these patients. AIM: To assess the frequency of incidence of pathogenic variants of the TSHR gene in children with CH due to thyroid dysgenesis. To study inheritance and phenotypic patterns of CH in families. MATERIALS AND METHODS: In this single-center interventional one-stage non-comparative study a group of CH patients was examined. The patients underwent neck ultrasound and radionuclide imaging. The examination was performed 14 days after hormone replacement therapy suspension or prior to its initiation. The structure of thyroid dysgenesis was estimated, genetic testing for mutations in the TSHR gene was performed using the NGS method. RESULTS: The study included 95 children with primary CH (75 girls; 20 boys). The patients' median age at the time of examination was 6.2 years [4.5; 8.9], the median level of neonatal TSH was 157.5 mU/l [60.9; 257.2]. Ectopic thyroid was found in 52% of children, aplasia in 36%, hypoplasia and hemiagenesis in 10% and 2%, respectively. In 5.4% of cases (in 5 out of 95 patients), different variants of the TSH gene were detected. Two children had heterozygous p.R450H and p.D487N variants in TSHR gene, two patients was homozygous for the p.S49Afs * 9 variant, one child had compound heterozygous variants (p.A485D and p.R450H). According to ultrasound imaging, all patients had thyroid hypoplasia of varying severity. Three children underwent thyroid scintigraphy, which revealed decreased 99mТc pertechnetate uptake (0.3-0.9%). CONCLUSION: In our study, the incidence of different variants in the TSHR gene in children with CH was 5.3%. Our analysis uncovered two previously undescribed variants. Genetic testing may be able to help with making the diagnosis, patient's management, and genetic counseling.

Effect of red seaweed sulfated galactans on initial steps of complement activation in vitro.

The research described here presents data on the effect of galactans of red algae, carrageenans (λ/µ/ν-, κ-, κ/ß-, and ι/κ-types), and agar on complement system activation in normal human serum. The experiments were based on well surfaces coated with triggering agents for binding initiating complement components -C3 and C4. The sulfated galactans inhibited C3 binding to lipopolysaccharide with direct dependence on the sulfation degree of polysaccharides. Sulfation degree was also important in carrageenans' capacity to reduce C4 binding to mannan. However, C4 binding to antibodies was considerably activated by carrageenans, especially with 3,6-anhydrogalactose. The gelling carrageenans were able to block antigen binding centers of total serum IgM and with more intensity than non-gelling. No structural characteristics mattered in ameliorating C5 cleavage by plasmin in extrinsic protease complement activation, but λ/µ/ν- and κ/ß-carrageenans almost completely inhibited C5 cleavage. Thus, galactans participated in cell surface biology by imitating surface glycans in inhibition of C3 binding and mannose binding lectin, but as to the tthe heclassical pathway these substances stimulated complement, probably due to their structure based on carrabiose.

[The experience of surgical treatment of a patient with a cholesteatoma of the temporal bone pyramid]. / Opyt khirurgicheskogo lecheniya patsienta s kholesteatomoi piramidy visochnoi kosti.

The article describes the clinical case of the cholesteatoma of the temporal bone pyramid, leading to a massive destruction of the surrounding structures. Attention is drawn to the importance of timely diagnosis of this pathology with the use of objective visualization methods to select the optimal surgical approach, which allows to completely remove this formation.

Effect of carrageenans on some lipid metabolism components in vitro.

The research described here focused on the effect of sulfated red algal polysaccharides (κ-, κ/ß-, ι/κ-carrageenan) individually and in combination with lipopolysaccharide (LPS) on the synthesis of prostaglandin E2 (PGE2) and cytokines (interleukin [IL]-1ß and IL-6) in whole blood model in vitro. The results demonstrated that, at high concentrations, carrageenans have substantial ability to modulate PGE2 synthesis and stimulate IL-1ß and IL-6 synthesis. A low degree of sulfate and high molecular weight were a prerequisite for the ability of carrageenans to modulate PGE2 synthesis. Further, we investigated the ability of the carrageenans alone and in combination with casein to affect bile salt permeability through an artificial membrane imitating the gastrointestinal barrier. The least sulfated κ/ß-carrageenan could retain bile salt permeation the most but less efficiently than cholestyramine. The polysaccharides did not affect pancreatic lipase activity. Our data confirm a possible mechanism of the cholesterol-reducing properties of carrageenan.

[Replacement methods of the septal framework of the septoplasty]. / Metody reimplantatsii autotkanei pri septoplastike.

In modern rhinosurgery it is generally accepted that the framework of the nasal septum dyring septoplasty should be preserved or, if it is possible, restored. The article presents a literature review of various techniques of reinforcement and replacement of septal framework. Each of them has its own advantages and disadvantages, while universal, common technology is lacking. Analysis of the literature shows that the improvement of the replacement technique is still relevant.

[The influence of classical back and neck massage on the functional state of the cardiovascular system and the frequency-time characteristics of its variability in the adolescents].

The present study was designed to study the influence of classical back and neck massage on the functional state of the cardiovascular system and its regulation under conditions of short-term physical loading in the healthy adolescents. It was shown that a course of classical massage promoted the reduction of arterial pressure in all children and the heart rate frequency in the boys. This effect was apparent as a reaction of blood circulation to the dosed physical exercises manifested as a rise in the heart rate frequency and stroke volume. The effects of classical massage were shown to be mediated through the alteration of the levels and mechanisms of regulation of the blood circulatory system and the enhancement of humoral and metabolic segmental sympathetic influences associated with the adaptation to the impact of massage therapy.

[Hygienic evaluation of direct heating of the air delivered to the shaft].

The paper gives the results of exploring a test pre-heating system for the air (APHS) delivered to the shaft. The system has been first used in the Urals. The supply air is heated by burning natural gas in the air current. The APHS system with a RG air heater (000 "Gas-Engineering") is equipped in addition to the existing heaters to enhance heat supply reliability in northern conditions. The data of the studies show that in all periods of the heating season (interseason, moderate frosts, the coldest month), the concentrations of hazardous substances, such as nitric oxides, nitric dioxide, sulfur dioxide, carbon dioxide, benz(a)pyrene, solid aerosol in the shaft-delivered air, do not exceed those given in the existing regulation provided that the design operating conditions are met. With the maximum gas consumption, the coldest month only was marked by the nitric dioxide content being greater than the standard values, causing the maximum projected natural gas consumption to be lower in the APHS system. The air level of nitric dioxide proved to be a major hygiene indicator while using this air heater.

[Effect of reflex-segmental massage on central hemodynamics in healthy people]. / Vliianie reflektorno-segmentarnogo massazha na sostoianie tsentral'noi gemodinamiki u zdorovykh.

Bioimpedance tetrapolar rheopolygraphy was made in 18-22-year-old athletes in lying position and active orthostasis using computer technology Kentavr PRS (Microlux). The study group of 40 men received a 10-day course of massage including classic massage of the spine and neck, reflex-segmental massage of the left scapula, region between the left scapula and the vertebral column, left great chest muscle and sites of left attachment of the ribs to the chest. The examinations were made before the massage and after it. The results demonstrate an optimizing effect of reflex-segmental massage technologies on central hemodynamics.

Cancer risk estimation in Belarussian children due to thyroid irradiation as a consequence of the Chernobyl nuclear accident.

The thyroid doses received by the juvenile population of Belarus following the Chernobyl accident ranged up to about 10 Gy. The thyroid cancer risk estimate recommended in NCRP Report No. 80 was used to predict the number of thyroid cancer cases among children during 1990-1992 in selected Belarussian regions and cities. The results obtained using this risk estimate show an excess of thyroid cancer cases being registered vs. the predicted cases. Thyroid cancer incidence rate among boys under investigation is higher than among girls in the postaccident period. The excess of the observed over the expected incidence in the general juvenile population is caused by the high thyroid cancer incidence rate among boys. These results, which can be considered part of the first stage of a thorough thyroid cancer risk estimation after the Chernobyl accident, demonstrate the critical need to complete these studies in depth.

[Gastroduodenal pathology in pyelonephritis in children]. / Gastroduodenal'naia patologiia pri pielonefritakh u detei.

The authors describe lesions of the upper alimentary tract in 91 children aged 4 to 15 years suffering from pyelonephritis. Intragastric pH-metry, endoscopy and histological examination of biopsy specimens from the gastric and duodenal mucosa were carried out, as a result of which gastroduodenal pathology was diagnosed in 3/4 of the patients. In 69.4% of the children, biopsy specimens of the mucous membrane of the antrum of the stomach showed Campylobacter pylori. Such combined pathology requires, in addition to the treatment of pyelonephritis correction of the diet, administration of agents that may contribute to the decrease of upper alimentary tract inflammation. If Campylobacter pylori are detected, the treatment eliminating those bacteria is to be administered.