Background. Rheumatic diseases are a large group of heterogeneous inflammatory and degenerative-metabolic diseases, characterized by systemic damage, covering all structures of connective tissue (joints, cartilage, bones, periarticular tissues), and also involve blood vessels, internal organs, skin and mucous membranes, mainly with a systemic, not local, nature of damage. Most chronic rheumatic diseases occur in women, and the onset coincides with the peak of childbearing age (18-45 years). The number of women with rheumatic diseases planning to have children increases annually everywhere.

Results. The study of pregnancy outcomes, children's health in the neonatal period and during follow-up observation was conducted in women with rheumatic diseases. Women with rheumatic diseases are more likely to have premature births or require operative delivery. Newborns have an increased frequency of pathologies, including prematurity, low gestational weight, intrauterine pneumonia, necrotizing enterocolitis, respiratory distress syndrome and cardiac arrhythmias such as bradycardia and atrioventricular blocks. Children born to women with rheumatic diseases have lower weight-for-height indicators and Apgar scores, as well as a high frequency of complications in the early neonatal period. The health of children at 1 year of life was characterized by the presence of predominantly functional disorders. The decision on breastfeeding should be made individually for each woman with rheumatic diseases.

Conclusion. Women with rheumatic diseases planning pregnancy require comprehensive dynamic observation. It is critical to adapt the therapeutic strategy to control rheumatic diseases and minimize the impact of autoantibodies on the fetus.

Background. Nonalcoholic fatty liver disease is most often a latent disease with absent or mild clinical manifestations. It is usually detected as an incidental finding when transaminase levels are elevated or imaging signs of fatty liver degeneration are detected. The definition of non-alcoholic fatty liver disease is based on two main principles – morphological picture of biopsy microscopy, which fully corresponds to the changes of alcoholic hepatosis and the absence of the main etiologic factor – alcohol intake in hepatotoxic doses. The epidemiological burden of hepatic steatosis associated with metabolic dysfunction is constantly increasing worldwide and in all age groups. Non-alcoholic fatty liver disease is not a single disease but a spectrum of conditions that range from mild steatosis to non-alcoholic fatty liver disease with associated fibrosis and possible cirrhosis. High index of suspicion is required in patients with components of metabolic syndrome including diabetes, obesity, dyslipidemia and/or hypertension, since the progression of non-alcoholic fatty liver disease from simple steatosis to cirrhosis and hepatocellular carcinoma increases exponentially in these patients. There is a strong association between non-alcoholic fatty liver disease and cardiovascular diseases, such as hypertension, atherosclerosis, coronary artery disease (CAD) and congestive heart failure. Cardiovascular diseases are the leading cause of death in patients with non-alcoholic fatty liver disease.

Results. The article discusses pathogenesis. Understanding the progression of the disease and the specific hepatic and extrahepatic diseases associated with each stage is critical for optimal patient management. Methods for correcting disorders are discussed. One of the most studied drugs in recent decades has been ursodeoxycholic acid, which is of great interest in the treatment of non-alcoholic fatty liver disease in combination with cardiovascular diseases due to its pleiotropic effects.

Background. In the treatment of gastroesophageal reflux disease, patients are usually advised to make lifestyle changes and prescribe drugs from the proton pump inhibitor family, but drug-resistant gastroesophageal reflux disease is becoming an increasingly common problem. In addition to the growing resistance of gastroesophageal reflux disease to therapy with proton pump inhibitors, the safety of long-term therapy with drugs of this group has been increasingly discussed in recent years. In this regard, the question arises about finding safe alternative ways to get rid of clinical manifestations of the disease at uncomplicated stages of the course in patients with gastroesophageal reflux disease.

Objective. Evaluation of the effectiveness of the use of the herbal preparation (biologically active supplement) Liv Lively in patients with non-erosive reflux disease.

Materials and methods. 40 patients with non-erosive reflux disease were examined, who were tested before and 1 month after therapy with the herbal preparation using the RSI, GSRS (Russian version) and MOS SF-36 questionnaires.

Results. In the examined patients, 1 month after treatment with the herbal preparation, there was a statistically significant decrease in the intensity of such esophageal and extraesophageal symptoms of the disease as hoarseness or voice change (р = 0.000057), coughing, perspiration, mucus formation or postnasal congestion, a feeling of the foreign body in the, as well as heartburn, burning sensation behind the sternum, in the esophagus, chest pain, digestive disorder (р = 0.000001). After treatment, there was a statistically significant decrease in the total score of the GSRS questionnaire, as well as in such indicators as abdominal pain, gastroesophageal reflux disease syndrome itself, as well as dyspeptic syndrome and constipation syndrome (р = 0.000001). In 1 month after the therapy, there was a statistically significant improvement in such indicators of the SF-36 questionnaire as the state of health in general and at the moment (p = 0.00001), improved tolerance to heavy physical exertion (р = 0.00001), as well as the general physical and emotional state, the indicator of physical pain and the tendency to feel susceptible to diseases (р = 0.000012).

Background. In 1958, the American physician Leslie Zieve first presented at a conference, and then described the original hepatological syndrome, which he observed in a series of clinical cases – and subsequently this pathology was called "Zieve syndrome". The disease is noted in some patients with alcoholic liver disease and has a triad of signs: jaundice, dyslipidemia (hypercholesterolemia and/or hypertriglyceridemia) and hemolytic anemia. In addition, hyperthermia and abdominal pain syndrome, which sometimes imitates acute surgical pathology, are often noted at the beginning of the disease. As a rule, these manifestations develop in the case of alcoholic excesses in a patient with existing alcoholic liver changes (from steatosis to initial manifestations of cirrhosis of the liver), and tend to have a fairly benign course – despite the often vivid manifestation, the existing manifestations pass or decrease within a few weeks, provided abstinence from alcohol. At first, after the description of the syndrome, the medical community was skeptical about the triad of signs, not excluding their accidental combination. However, later, descriptions of similar observations appeared in reputable medical sources; works began to appear revealing the pathogenetic mechanisms (and interrelations) of the triad of observed symptoms in Zieve syndrome. Nowadays, the Zieve syndrome has taken its place in clinical hepatology. It is quite rare, so the need to inform about this pathology among clinicians remains relevant.

Conclusion. The article presents a clinical case of Zieive syndrome in patient B., 29 years old, which proceeded with a typical triad of signs, followed by their leveling for four weeks.

Background. Hepatocellular carcinoma is one of the most difficult medico-societal and economic problems in the world. In spite of profound studies in this sphere, hepatocellular carcinoma continuous to take a leading position among oncological diseases. This type of cancer is the fifth malignant tumors and the second leading course of cancer – related deaths. The analyses of science data confirms the importance of hepatocellular carcinoma pathogenesis, which isquite complex and depends on etiological factors. It leads to the improvement of diagnostic criteria and their standardizations to simplifying their adaption in clinical practice. In this regard, the carcinoma early diagnosis requires search for new more specific and sensitive biomarkers which in turn needs understanding of epigenetic changes that develop in the process of pathogenesis in order to be able to rely on them to search for the selection of optimal sensitive potential markers for prognosis and postoperative monitoring of a specific group of patients.

Objective. To analyze and systematize the references about special features of hepatocellular carcinoma pathogenesis in patients with

hepatitis types B and C for estimation of potential markers search, which will be enough sensitive, but economically profitable and available for prognosis and postoperative monitoring of these groups of patients.

Materials and methods. The methods of analysis, synthesis and generalization of scientific data are used in the current work. The searching of the references was conducted using the databases Scopus, Web of Science, PubMed, eLibrary.

Background. Hepatocellular carcinoma is one of the most serious healthcare issues, particularly in the context of hepatitis B virus infection. Hepatitis B virus is associated with a high risk of developing hepatocellular carcinoma, and there is evidence that certain mutations in the viral genome may increase this risk. However, studies conducted on the Russian population remain insufficient.

Objective. The aim of this study is to identify hepatitis B virus mutations that may be associated with an increased risk of developing hepatocellular carcinoma in patients of the Russian population.

Materials and methods. The study included 7 male patients diagnosed with hepatocellular carcinoma secondary to hepatitis B and a control group of 30 participants. Viral genomes were determined using the latest generation sequencing panel HBV-seq. Statistical analysis was performed using Pearson's χ² test.

Results. All viral genomes analyzed were genotype D, which is the most prevalent in Russia. Several mutations were identified in the hepatocellular carcinoma patient group that occurred significantly more frequently compared to the control group. These include: Core protein (C-protein): cT67N, cP130Q/L; Polymerase protein (P-protein): pT66S, pT239A, pS285A, pH289C/P, pL335H/I, pN388D, pL450M, pC667R/Y. Additionally, oncogenic mutations xK130M and xV131I were found in 3 out of 7 patients, cA80I/T in 2 out of 7, as well as single cases of mutations sP120T and sY134F.

Conclusion. The results of the present study demonstrate high genetic variability among patients with hepatocellular carcinoma. Determining the significance of specific hepatitis B virus mutations and their associations with hepatocellular carcinoma development represents an important direction for further research in the field of medicine.

Background. This review analyzes the features of goat milk as a raw material for the production of infant formulae for artificial feeding. Nowadays, infant formulas based on goat's milk are becoming more and more widespread. Despite the fact that the composition of infant formulas is regulated for all components, the initial raw material cannot but influence the features of the final product. Unlike cow's milk, produced by merocrine type of secretion, goat's milk, as well as women's milk, is characterized by apocrine type. With this type of secretion, the content of biologically active substances in milk is greater due to the partial destruction of the secreting cell, in this regard, the child receives more compounds that contribute to the restoration and protection of the intestinal mucosa. Another advantage over cow's milk is the looser coagulation of goat's milk casein, which makes it more accessible to proteases, as well as a higher content of ω-3 fatty acids, oligosaccharides and nucleotides, a positive effect on the intestinal microbiota. However, since only part of the beneficial properties of the original raw material are retained in the finished product, the benefits of formulas based on goat's milk must necessarily be demonstrated in clinical trials.

Conclusion. Formulas based on goat's milk from different manufacturers vary significantly in composition, which affects the tolerability

and hypoallergenic properties of the final product. At the same time, there are still recommendations that goat milk-based mixtures cannot be used in the nutrition of children with allergy to cow's milk proteins at the elimination stage of diet therapy. In Russia, goat milk-based formulas are currently available from a number of manufacturers, including the new domestic goat milk-based formulas with a complex of five basic oligosaccharides of breast milk (5-NMO complex).

Background. Dysosmia is a group of various disorders of the olfactory analyzer, manifested by an increase or decrease in the ability to perceive odors, up to a complete loss of olfactory sensitivity. Until recently, the problem of olfactory impairment was not as urgent as it became in 2019 and 2020, when the whole world faced a pandemic caused by the SARS-CoV-2 virus. Such interest of doctors and researchers in olfactory dysfunction can be explained by the very high incidence of dysosmia associated with COVID-19 – 60-80% of the total number of cases among the European population and 30% among the population of East Asia. Most often olfactory function recovers spontaneously on the background of treatment of the underlying disease, usually within one month, and does not require additional therapeutic measures. As early as on day 8-9, up to 70% of patients notice an improvement in their sense of smell, and 80-90% of patients regain their sense of smell after two weeks. However, about 10-15% of patients have to turn to specialists for lack of sense of smell for 20 days or more. The presence of anosmia for more than 15-20 days is probably due to possible damage to olfactory receptor cells themselves, which can take up to 2 months to recover.

Conclusion. Since the olfactory function plays a large role in the life of every person, its loss can lead to discomfort, stress and limitation of various kinds of pleasures associated with the perception of smells, etc. In addition, the inability to distinguish odors can lead to poisoning with expired products or other harmful substances. Also, dysosmia associated with COVID-19 is of particular interest, since it has a specific neurosensory mechanism of occurrence associated with damage to the cells of the olfactory neuroepithelium. Therefore, it is necessary to develop an effective treatment plan for this complication of COVID-19 infection and conduct preventive education of the entire population.

Background. Because of the serious psychological, social, economic, and medical consequences, considerable effort has been invested in identifying genes and molecular pathways involved in hearing loss to prevent, improve rehabilitation, and develop treatments for ear diseases associated with hearing loss. Genomic sequencing technologies have led to the discovery of genes associated with hearing loss. Studies of the inner ear transcriptome and epigenome have characterized key regulators and pathways involved in inner ear development and paved the way for their use in regenerative medicine. The use of viral vectors for gene delivery in animal models of hearing loss has prompted the industry to work towards bringing such approaches into the clinic. Gene delivery using adeno-associated viral vectors, have allowed targeted manipulation of transcription factors involved in hair cell differentiation, which will open up prospects for gene therapy for sensorineural hearing loss. The use of genetic diagnosis and sequencing may replace audiologic screening of newborns in the future because of its higher cost-effectiveness. In the presence of otitis media, full genome sequencing of clinical bacterial isolates can be used to select an appropriate and effective drug that reduces side effects. Questions remain regarding the ethical use of genetic data and, in particular, genetic manipulation. The search for an answer to the question of how to properly dispose of the results of genetic testing may lead to entirely new approaches in understanding the pathogenesis and treatment of otologic diseases. However, for most multifactorial diseases, significant correlations between individuals' altered genes and susceptibility to a particular disease could not be found, or were small.

Results. The article presents a literature review of data from medical databases: Pubmed, Elibrary, Google Academy. The possibilities of genetic research in sensorineural hearing loss, middle otitis media and Meniere's disease are described.

Background. Adrenoleukodystrophy (ALD) is an orphan hereditary disease associated with severe metabolic disorders. Taking into account the late appearance of symptoms of the disease with irreversible progression, it is relevant to introduce methods of early diagnosis in the newborn period for the timely appointment of effective therapy before the appearance of clinical signs of the disease.

Objective. The aim of the study was to describe a clinical case of familial X-linked adrenoleukodystrophy.

Materials and methods. The analysis of the child's development histories, medical records of an outpatient patient, and medical records of an inpatient patient of three siblings with X-linked adrenoleukodystrophy was carried out.

Results. This article discusses a clinical case of familial adrenoleukodystrophy in three siblings. The older sibling developed symptoms of the disease from an early age in the form of delayed physical and psychomotor development, unexplained bouts of hyperexcitability, and muscle twitching. From the age of three, the symptoms of adrenal insufficiency increased. After a hospital examination, primary adrenal insufficiency was diagnosed and hormone replacement therapy was prescribed. A genetic study that made it possible to diagnose X-linked adrenoleukodystrophy was conducted only at the age of 6 years due to the deterioration of the patient's condition and the increase in neurological symptoms. Two younger siblings had a more favorable course of the disease.

Conclusion. The described family case of X-linked adrenoleukodystrophy clearly showed the need to develop methods for early diagnosis

of the disease, which determine not only the effectiveness of timely treatment and improvement of the quality of life of patients, but also the possibility of having healthy children.