Elevated levels of triglyceride-rich lipoproteins contribute to the residual cardiovascular risk in patients, including those with optimally controlled low-density lipoproteins. However, the variety of etiological factors, pathogenetic patterns of hypertriglyceridemia and their combinations, often bring complexity to prediction of the risks of atherosclerotic cardiovascular disease, acute pancreatitis, and therefore the optimal management. The review presents data from epidemiological and genetic studies, discusses complex issues of diagnosis and management strategies, including apheresis, as well as the prospects of innovative therapy.

There is a worldwide search for therapeutic treatment of calcification aortic valve disease (aortic stenosis), which is currently being treated only with surgical intervention. Fundamental molecular biological research helps in the search for anticalcification therapy and we are conducting research to find a therapeutic treatment for aortic valve calcification. This paper presents a study of flavonoids, potential substances for anticalcification therapy.

Prader-Willi syndrome is the most common genetic disease causing life-threatening obesity in childhood, the pathogenesis of which is based on hypothalamic dysfunction. These children are at risk for developing a full range of sleep disorders, including sleep-related breathing disorders. The article presents a series of observations of children of different ages with Prader-Willi syndrome and various types of sleep breathing disorders, describes the possibilities of correction and their limitations.

Combined oxidative phosphorylation deficiency type 3 is a rare mitochondrial disease caused by pathogenic variants in the mitochondrial elongation factor (TSFM) gene. The function of this protein is highly active in cardiomyocytes and neurons, so the manifestations of the disease are neurological and cardiac symptoms. Heart damage occurs predominantly as concentric hypertrophy of the left ventricle. From the nervous system, the most observed are muscle hypotonia and choreo-like dyskinesis. In this article, we present a clinical case of combined type 3 oxidative phosphorylation deficiency, which was characterized by the early onset of neurological symptoms and subsequent myocardial hypertrophy at the age of 10 years. This is the second case of the C919T:p.Gln307Ter mutation in the TSFM gene in the literature we studied. Today, the disease is characterized by high mortality at onset from birth and stabilization of the clinical course with asymptomatic or late onset of the disease. The small number of cases of combined oxidative phosphorylation type 3 deficiency leaves many clinical questions, and the description of each genetically confirmed case is extremely important.

Congenital heart defects (CHD) are the most common form of congenital malformations in children. Due to early diagnosis, rapid development of cardiac surgery technologies as well as successes in the care of severe patients after surgical correction of CHD, the survival and life expectancy of patients with CHD have significantly increased over the past decades. All this has led to the emergence of new population of patients with severe CHD and unique cardiac hemodynamics due to palliative intervention or multi-stage correction with large amount of exposure. Such patients have specific functional capabilities, special cardiopulmonary performance as well as the risk of serious adverse events (heart failure, life-threatening cardiac arrhythmias, sudden cardiac death and others).

The review presents generalized current understanding about the possibilities of a cardiorespiratory test in children with various CHD.

Hypersomnias (hypersomnolence) are a group of neurological diseases with the main manifestations in the form of pathological daytime sleepiness and/or excessive need for sleep. Most sleep disorders are also accompanied by increased sleepiness during the day, which requires differential diagnosis of various causes of hypersomnia and identification of central hypersomnolence, which are rare diseases. There are difficulties both with the determination of the pathology of drowsiness and the subjective assessment of the duration of sleep. High sleepiness disrupts daytime functioning and reduces performance, the ability to drive a car, and can cause accidents and injuries. Hypersomnia is often comorbid with psychiatric disorders such as bipolar disorder, depression, and seasonal affective disorder. Depressive thoughts, aggressiveness, as well as comorbidity of hypersomnia with hysterical personality disorder are noted. Clinical and psychological aspects of hypersomnia at this stage have not been studied enough. The presented psychological consequences, as a rule, were described from the point of view of doctors’ observation of the behavior of patients, while a targeted study of the psychological characteristics of the personality of patients in most cases was not carried out. In the framework of future research, it seems relevant to study the clinical and psychological characteristics of patients with various forms of hypersomnia and to determine the targets of psychocorrectional work.

Background. A large number of publications indicate the significant prognostic importance of total resection of brain tumors. Nevertheless, total removal of tumors from functionally significant areas still poses a certain difficulty. In this case, we are talking about the need to preserve not only the cortical centers, but also the interested tracts of white matter. At the same time, deterioration of the neurological status after surgery negatively affects the quality of life and is also associated with lower survival rates. Objective. To study the results of surgical treatment (functional status) of pediatric patients with low-grade gliomas, taking into account the relative location of the tumor and the affected tract. Materials and methods. The results of treatment of 13 pediatric patients (from 5 to 17 years old), 54 % boys and 46 % girls, were assessed. The main observation parameters are presented in tables 1 and 2. Data analysis was carried out using basic software. Key indicators are expressed as percentages. Results. Depending on the distance to the tract of interest, observations were divided into two groups: distance up to 5 mm. and more than 5 mm. In patients of the first group, deterioration of the neurological status after surgery was observed in 70 % of patients. In patients of the second group, there was no deterioration in the neurological status. In patients with infiltrated tracts, deterioration in neurological status was observed in 50 % of cases. In patients with contained tracts, no deterioration in neurological status was observed.

Neoplasms of the C2 spinal nerves are rare clinical observations in childhood. The removal of these tumors has a number of features related to their localization. The paper describes the experience of treating a 17-year-old child with a tumor (schwannoma) of the C2 spinal nerve. In the patient, the manifestation of the disease was associated with manifestations of compression myelopathy against the background of a large tumor detected by MRI at the level of C1-C2 vertebrae with an extra-intracanal spread of the “hourglass” type. Despite the size of the tumor and the location of the intramural component ventrally from the spinal cord, the chosen tactics made it possible to minimize surgical trauma and avoid neurological deficit with total removal of the neoplasm.

Metabolomics is a comprehensive quantitative and qualitative analysis of metabolites in biological specimens (cells, biological fluids and tissues). It includes chemometric and statistical analysis of metabolomic data to assess group-wise differences. The reliability of the analytical data and the biological meaningful results of the metabolomics study are determined by the selection of appropriate procedures of sample preparation.

The review outlines general recommendations for planning and organizing untargeted metabolomics studies of adherent cell cultures. The main strategies and procedures for optimization of sample preparation and selection of culture conditions, sampling, metabolism quenching and metabolite extraction are considered.

Bechet’s disease is a rare, multifactorial, systemic inflammatory disease of unknown etiology. Oral and genital ulcers, uveitis, and cutaneous lesions (pseudofolliculitis and erythema nodosum) are its most common manifestations. Less frequent manifestations include lesions of the cardiovascular, joint, gastrointestinal, and nervous systems. There are no specific diagnostic tests for Bechet’s, and the diagnosis is eatablished based on revealed clinical criteria. Due to the variability in clinical presentation, the predominance of non-rheumatic symptoms, and the lack of awareness among physicians, there is often a delay in diagnosis. This can lead to misdiagnosis and unnecessary treatment for patients.

This article presents a clinical case of Bechet’s disease, which was initially diagnosed as primary immunodeficiency.