Pediatrician (St. Petersburg)

The epidemiology, clinical, biochemical and molecular genetic characteristics of oligosaccharidoses are presented — a group of rare autosomal recessive lysosomal diseases, includes sialidosis, mannosidosis, fucosidosis, aspartylglucosaminuria and α-N-acetylgalactosaminidase deficiency. All these diseases are caused by impaired catabolism of glycoproteins and excessive accumulation of various types of oligosaccharides in lysosomes. Clinically, they are characterized by progressive neuropsychiatric disorders combined with a mild gurler-like phenotype. Two genetically heterogeneous variants of alpha- and beta-mannosidosis are caused by mutations in the MAN2B1 and MANBA genes, respectively, and hereditary deficiency of two related α- and β-mannosidases. The cause of the development of fucosidosis is inactivating mutations in the FUCA1 gene, leading to deficiency of lysosomal α-L-fucosidase and accumulation of fucoglycoproteins and fucoglycolipids. The pathogenesis of aspartylglucosaminuria is associated with impaired catabolism of aspartylglucosamine and its accumulation in the lysosomes of liver, spleen, thyroid, kidney and brain cells. The cause of α-N-acetylgalactosaminidase deficiency is mutations in the NAGA gene and the accumulation of uncleaved glycoconjugants in lysosomes. A description of existing experimental models is presented and their role in studying the pathogenesis of these severe lysosomal diseases and the development of various therapeutic approaches is discussed. The most successful treatment for alpha-mannosidosis has been enzyme replacement therapy using a recombinant enzyme — velmanase alfa, which has already passed phase III clinical trials and is used in clinical practice. Pathogenetic treatments for the other oligosaccharidoses discussed here have not been described, although preclinical trials have shown promise for hematopoietic stem cell transplantation and gene therapy for the treatment of β-mannosidosis and aspartyl glucosaminuria, respectively.

BACKGROUND: Depressive disorders are becoming increasingly prevalent and represent a significant social issue with heavy economic implications.

AIM: To study the effects of maternal temporary isolation during early ontogenesis on the development of anxiety and depressive symptoms in adult rats.

MATERIALS AND METHODS: The study employed a maternal temporary isolation model as a form of early postnatal stress (from postnatal days 2 to 12). Two experimental groups were formed: a control group (n=20) and an “early maternal temporary isolation” group (n=20). On the 90th day of life, a behavioral test battery was used to assess the impact of early postnatal stress on the development of anxiety-depressive symptoms. The behavioral tests included the elevated plus maze, the Porsolt forced swim test, and the sucrose preference test.

RESULTS: Behavioral testing in the elevated plus maze revealed that rats exposed to early maternal temporary isolation showed reduced time spent in the open arms and increased time in the closed arms compared to the control group, indicating heightened anxiety levels. In the Porsolt test, the early isolation group demonstrated increased immobility time compared to the control group. In the sucrose preference test, the early isolation group exhibited reduced sucrose solution preference, indicative of anhedonia.

CONCLUSION: Stress exposure during early ontogenesis, a critical period for the development and maturation of brain structures responsible for psychoemotional behavior, can lead to their dysregulation and serves as a predictor for the development of anxiety-depressive symptoms in adult rats.

BACKGROUND: Androgen deficiency can boost stone formation in kidneys, therefore androgen replacement therapy is successfully used in the treatment of patients with urolithiasis on the background of androgen deficiency. There are numerous publications describing the work of urologists during COVID-19 pandemics however they are all devoted to organization of medical aid. Increased risk of urolithiasis during COVID infection is mentioned as well as the general decrease of physical activity during COVID and general decrease of life quality. On the other hand, the direct effect of androgen deficit not to mention the influence of augment androgen therapy on the background of COVID has never been studied.

AIM: The aim of this work was to find out the possibility of using this type of therapy in the treatment in the conditions of COVID-19 pandemic as far as electrolyte metabolism and urinary excretion processes — the central links in the pathogenesis of urolithiasis.

MATERIALS AND METHODS: 199 male patients age 25 through 68 years were studied while under treatment at Urologic Dept. of St. Elisabeth Clinical Hospital in Saint Petersburg. Laboratory and clinical parameters were registered at he beginning of stationary treatment, after in ended and also in 4 and 12 months. Some of реу studies were accomplished in triplets skipping the moment of discharge from the hospital. Out of 99 patients received only traditional therapy (contact ureterolitotripsy after distant litotripsy) while 100 patients got androgenous replacement therapy.

RESULTS: Based on the results of treatment of 199 men suffering from urolithiasis, it was found that COVID-19 infection did not create fundamental contraindications for the use of androgen replacement therapy in the treatment of urolithiasis.

CONCLUSION: In patients with urolithiasis suffering from COVID-19 infection and receiving androgen replacement therapy, there was no additional increase in pathologic processes associated with the underlying disease, i.e., androgen replacement therapy was not contraindicated, therefore in case of pandemic recurrence, androgen replacement therapy can be used in the treatment of urolithiasis.

BACKGROUND: One of the priority areas of modern medicine, which unites the interests of various specialists (therapists, cardiologists, gastroenterologists, endocrinologists), is the study of the pathogenesis and clinical manifestations of non-alcoholic fatty liver disease, which is widespread and of unconditional social significance. A search for non-alcoholic fatty liver disease adequate experimental model is of utmost importance for the studies of its etiology and pathogenesis. To understand all pathogenetic peculiarities of this pathology elaboration of hypercaloric hepatopathogenic diet rich in carbohydrates model is of utmost interest.

AIM: The aim of the study was to assess biochemical profile changes including antioxidant system significant markers in rat fructose-induced non-alcoholic fatty liver disease model.

MATERIALS AND METHODS: Two non-alcoholic fatty liver disease model versions were used: a light one — non-alcoholic steatosis and a severe variant — non-alcoholic steatohepatitis.

RESULTS: Both were characteristic of bilirubinemia, cholesterolemia, lipid peroxidation activation and antioxidation mechanisms suppression, cytolitic and cholestatic syndromes.

CONCLUSIONS: The extent of metabolic disorders proved to depend on non-alcoholic fatty liver disease model severity.

The problem of infertility now is relevant and has high social significance both for the Russian Federation and for many other countries, due to its widespread occurrence. Overcoming infertility with in vitro fertilization (IVF) is still a difficult task: only about a third of women achieve pregnancy with this type of treatment. Reliable tools are needed to predict the success of the onset and development of pregnancy after IVF. The indicators used to predict the IVF effectiveness do not assess the inflammatory status of patients, which can significantly contribute to the receptivity of the endometrium, and, consequently, to the achievement of implantation. In recent years, enough information about the possible use of hematological indexes as parameters of a systemic inflammatory response, especially with a subclinical nature, when other inflammatory markers remain within normal values, has been accumulated. Inflammatory hematological indexes are calculated as the ratio of different populations of blood cells: NLR (Neutrophil-lymphocyte ratio), PLR (Platelet-lymphocyte ratio), LMR (Lymphocyte-monocyte ratio), SII (Systemic inflammatory index), SIRI (Systemic inflammatory response index) and others. They can potentially serve as simple and cost-effective predictive markers for the IVF success. Further study of the prognostic role of inflammatory hematological indexes in infertility associated with subclinical inflammation and their validation in prospective studies will improve treatment algorithms and increase the IVF effectiveness in such patients.

The article outlines the features of teaching molecular biology to foreign students of the preparatory department. At the preparatory department at St. Petersburg State Pediatric Medical University, students from more than 30 countries are trained, who upon admission differ significantly in their level of training. To assess the initial level of knowledge of students in molecular genetics, the department conducts computer testing, the analysis of the results of which serves as the basis for a further differentiated approach to teaching students. To improve the efficiency of mastering theoretical material and problem solving skills, various methodological approaches are proposed. Students are helped to overcome the difficulties of using the Russian language when studying biology by biological thematic mini-dictionaries prepared by teachers of the department for each section studied. The textbook “Cell division. Genetics. Molecular Biology” is addressed to the students of the preparatory department, it includes test items and problems, provides examples of problem solving with diagrams and drawings. Having students complete assignments using an interactive whiteboard and the ActivInspire application significantly expands the teacher’s capabilities. To familiarize students with high-tech methods that are promising in medicine, various visual materials are being developed, including animations, which in an accessible form introduce future doctors to advanced technologies. Visualization of molecular genetic processes through original author’s presentations, animations, diagrams and drawings facilitates the perception of information by foreign students and contributes to the adaptation of students of foreign software to studying.

Hepatitis A is a serious medico-social problem in the health care system worldwide. In the Russian Federation, hepatitis A virus continues to be the major etiological agent of acute viral hepatitis. The features of Hepatitis A at the present are its frequent association with chronic alcohol intoxication, chronic hepatitis B and C, HIV infection, a tendency to a prolonged course with exacerbations and relapses, the presence of cholestatic syndrome and an autoimmune disorder, more frequent development of severe forms of the disease due to the incidence declined in children and increased in adults. Due to the lack of specific antiviral therapy, vaccination is currently recognized as the most effective measure to combat hepatitis A. Thus, hepatitis A vaccination is included in the National Immunization Program in at least 20 countries, including the United States, China and Brazil. Expansion of the National Immunization Program and inclusion of hepatitis A vaccination will significantly reduce the incidence of this disease in the Russian Federation. The article describes the features of the hepatitis A virus reproduction cycle, including a description of quasi-enveloped form of virions. Current data on the epidemiology and pathogenesis of hepatitis A are presented. Clinical manifestations of manifest forms of hepatitis A are considered. The main and most promising methods of laboratory diagnostics of hepatitis A, as well as methods of specific disease prevention are described.