The steadily growing interest in studying of endocrine genetics is driven not only by the search for new pathologies but also by the most pressing need to develop methods for early diagnosis, treatment and management of patients. Though 20% of all the patients with von Hippel-Lindau syndrome do not have a family history of the disease; a genetic basis is a natural characteristic of the disease and determinates a phenotype. Despite the nonaggressive course, in general, a relative unpredictability of the syndrome signs onset and the lack of regular monitoring can increase the risk of surgery complications and cause a disability at a young age. The presented clinical case shows the need for a multidisciplinary approach to management of the patients with von Hippel-Lindau syndrome.

Reflexotherapy (acupuncture) is one of the most important and valuable part of mankind’s heritage. Reflexotherapy has a long history and was formed as a practical healing method. Reflexotherapy methods include: acupuncture (Chen); Chiu-method (cauterization or warming of acupuncture points by means of wormwood or coal cigars); multi-needle stimuli by a special hammer; vacuum effect on acupuncture points; acupressure; tsubo-therapy; and hirudotherapy. Modern modifications of reflexotherapy are applied: electroacupuncture, electropuncture, laser reflexotherapy, craniopuncture, magnetopuncture, cryotherapy, color and light therapy, and others. There are many theories about the mechanism of action of this method. The focus of the Kazan school is on the role of sensory interaction at different levels of the nervous system in the implementation of the relexotherapy effects. The reflex mechanism for the development of therapeutic effect is considered in this connection as part of a universal method of information processing — sensorimotor interaction. The therapeutic effects of reflexotherapy are realized through the formation of a local and background sensory flow, and their interaction at different levels of the nervous system. Afferent flow is processed at the peripheral, spinal-segmental, stem, subcortical levels, as well as at the level of the cortex. The realization of the positive effects of reflexotherapy occurs, including due to the phenomenon of neuroplasticity, which is implemented at the peripheral and central levels. Reflexotherapy methods can activate the phenomenon of brain neuroplasticity, leading to structural and functional changes that require further research in this direction.

Summary. In diabetic ketoacidosis, significant metabolic disorders develop in all organs and tissues, including the myocardium. The main energy substrate in the myocardium are fatty acids.

The objective was to study the fractional composition of serum lipids in patients with T1DM, complicated by diabetic ketoacidosis, depending on the severity ketoacidosis.

Materials and methods. Determination of fatty acid spectrum of serum lipids was carried out in the following groups of patients: 68 patients with compensated type 1 diabetes mellitus (group 1), 54 patients with type 1 diabetes complicated by mild ketoacidosis (group 2); and 42 patients with diabetes mellitus complicated by moderate and severe ketoacidosis (3 group). Extraction of lipids from serum was performed according to the method developed by J. Folh et al. (1957), after which methylation of fatty acids was carried out according to the method proposed by K.M. Sinyak et al., with subsequent analysis using the Crystal-2000M gas chromatograph (Russia).

Results. All patients with type 1 diabetes mellitus compared with a group of healthy individuals showed an increase in the total content of saturated fatty acids, a decrease in the total concentration of unsaturated fatty acids, as well as an increasing in the ratio of saturated / unsaturated fatty acids. At the same time, a significant difference between the studied groups was revealed. The most pronounced changes were found in the group of patients with type 1 diabetes mellitus complicated by moderate to severe ketoacidosis.

Conclusions. These changes develop as part of a general systemic metabolic disorder in a given cohort of patients.

The aim of the study. To assess the significance of surrogate markers of the «hygienic hypothesis», the «old friends theory» and the hypothesis of «depletion of biomes» in the development of ulcerative colitis among the population of Western Siberia.

Materials and methods: an active survey (interviewing) of 81 patients with ulcerative colitis and 39 healthy respondents was conducted. The main surrogate markers of the «hygienic theory», the hypotheses of «old friends» and «depletion of biomes» were studied: past infestations, pets in childhood, use of antibiotics, breastfeeding, family size (number of siblings), attendance at pre-school institutions, accommodation in a dormitory while studying, accommodation in a city or a village, type of drinking water supply and the type of water respondents use for drinking; in the framework of the «biome depletion» theory, in addition to the markers listed above, a sugar consumption rate was assessed. Consumption of simple carbohydrates was calculated based on the number of cups of tea and/or coffee drunk per week and the number of teaspoons or cubes of sugar that the respondent puts in one cup.

Results. Among the indirect markers of the «hygiene hypothesis» and the theory of «old friends» examined, only one effect the risk of ulcerative colitis among the population of the Omsk region — visiting preschool institutions (2I = 4,59, p <0,05). Of the indirect signs of the «biome depletion» hypothesis examined, significant differences were found in the amount of simple carbohydrates consumed: patients with ulcerative colitis consumed more sugar with tea and/or coffee in the period before the first signs of the disease than healthy respondents (U = 1214,0; Z = 2,0; p = 0,04).

Conclusion. In our study, the statistical significance of such factors as rare visits to kindergartens and the consumption of large amount of sugar by patients with ulcerative colitis in the period before the onset of the disease in comparison with healthy respondents was demonstrated.

Background: fever of unknown origin is one of the diagnoses more difficult in our area, because it involves monitoring of a complex algorithm of several procedures to establish its cause and con frequently takes too long before any explanation. Therefore, the objective is to get to your diagnosis etiologic and to do a particular series of steps.

Objective: to describe the most frequent causes of classical fever of unknown origin in the hospital setting and make a simplified diagnostic search algorithm for this pathology.

Methods: a case-series study of 85 patients admitted to the Hospital Obispo Polanco with a diagnosis of fever of unknown origin conducted from 2013 to 2018 in the therapeutic services except for pediatrics and surgery units. The study variables included age, sex, complementary studies (variables from humoral, microbiological and biopsies), results obtained, diagnosis of each patient, treatment.

Results: of all patients, 23 (27 %) had infections, of which 14 (16 %) of respiratory focus, 6 (7 %) of urinary focus, 2 (2 %) of abdominal focus and 1 (1 %) of the skin focus. Seven patients (8 %) had neoplasms, three of which (3 %) of respiratory origin, three of digestive tract (3 %) and one of prostatic origin (1 %). In four patients (5 %) were diagnosed of the rheumatic diseases. In 51 (60 %) patients not be could diagnose any cause of fever of unknown origin.

Conclusions: the first cause of fever of unknown origin is diseases of unknown etiology with 60 % (51 cases) without being able to identify the clear focus. Among the known etiologies, the most private pathology is infectious bacterial diseases of the respiratory and urinary tracts (27 % — 23 patients). The third place is occupied by oncological diseases with a predominance of malignant pulmonary neoplasms (8 % — 7 patients). Rheumatological diseases occupy the last place and, in this study, accounted for only 5 % (4 patients).

The education of patients at the health school with the objective to improve the effectiveness of treatment of cholelithiasis and to prevent the gallstone formation was organized.

Material and methods. 210 patients with cholelithiasis, stage I, were examined: 123 patients (the follow up group) received therapy due to medical and economic standards and were educated in the health school; 87 patients (the comparison group) received only standard therapy. The examined groups of patients were balanced by gender and age. In verification of the diagnosis, in addition to general clinical data, the results of ultrasound examination of the gallbladder were used. The study of psycho-emotional state, health literacy and medical activity dynamics was performed during treatment. The criteria for evaluating of the effectiveness of education at health school were the results of responses to tests and questionnaires.

Results. All patients had abdominal pain and dyspeptic syndromes. The study of psychoemotional status revealed significant increasing of state and trait anxiety and the level of depression. The inclusion of health education in the treatment regimen contributed to a distinct decrease of anxiety, that indicates the normalization of the psycho-emotional status, and leads to the more significant positive dynamics of clinical signs. Gaining additional knowledge about cholelithiasis and its prevention contributed to the  increase of patient’s motivation to follow the recommended procedures, diet and rational physical activity.

Conclusion. The use of the developed structured program of active education of patients with the cholelithiasis, stage I, as part of complex therapy contributes to the improvement of the therapeutic effect, i.e. the earlier decrease of pain and dyspeptic syndrome, and restoring of psycho-emotional balance. After educational classes, the increase of health literacy, medical activity, motivation to maintain health-preserving behavior was revealed, which lasted for 1 year. Thus, the therapeutic education of patients at the early stage of cholelithiasis in health school is clinically confirmed and promising for the prevention of this disease.

The objective of the study was to evaluate the lipid and hemostatic profile in patients with peripheral artery disease of lower extremities at different levels of lesion and methods of surgery.

Materials and methods. 330 male patients with peripheral artery disease of lower extremities arteries of II b — III degree were examined: group I consisted of 140 patients with lesions of the femoral-popliteal arterial segment, who underwent femoralpopliteal bypass surgery (58.64±7.73 years), group II — 97 patients with occlusive-stenotic lesions of the aorto-iliac segment, who underwent aortofemoral bypass surgery (56.82±6.69 years), group III — 93 patients with occlusive stenotic changes of the iliac arteries, who underwent transluminal balloon angioplasty and stenting of the iliac arteries. The examination of patients included general clinical, instrumental and laboratory methods with the assessment of lipid profile fractions and plasma-coagulation level of hemostasis.

Results. The provided examination showed that patients with peripheral artery disease have disorders of the blood lipid profile, which have significant differences depending on the severity and localization of occlusive-stenotic lesions of the aorta and main arteries. Lipid imbalance persists after correction of arterial blood flow. Significant changes in the hemostatic profile in all groups in the postoperative period were revealed, which were characterized by hypercoagulation in the form of a significant increase in the concentration of fibrinogen, reducing the activity of antithrombin III, shortening of thrombin time in groups I and II and reducing spontaneous fibrinolysis in groups I and II. Thrombin time and spontaneous fibrinolysis in group III increased relative to preoperative values. Open interventions in the volume of femoral-popliteal bypass surgery were accompanied by a more pronounced inhibition of fibrinolysis in comparison with minimally invasive interventions, and in endovascular procedure the anticoagulant potential was more depressed. Open reconstruction of the iliac segment was associated with a large reduction in thrombin time, but less inhibition of anticoagulant potential, compared with endovascular technique, due to large damage to the endothelium.

Conclusion. It is necessary to monitor the lipid and hemostatic profile both before and after surgery in patients, admitted to the hospital for reconstructive surgery on the aorta and main arteries of the lower extremities, in order to develop an effective personalized drug prevention of lower extremity peripheral artery disease progression and to prevent the development of thrombotic and stenotic complications of the arterial reconstruction zone.

Currently, the analysis of respiratory function of lungs at suspicion of obstructive pulmonary diseases is recommended to start with spirometry as the most sensitive method of obstruction detection. However, data on informative value and specificity of a method are contradictory. To obtain reliable results good cooperation of the patient and health professionals is necessary. Impulse oscillometry is a noninvasive method of general respiratory resistance assessment, which does not require forced exhalations. The sensitivity and specificity of this method remain undecided as well as the obtained parameter interpretation. The objective of this work was to study opportunities of impulse oscillometry in diagnostics of early respiratory dysfunctions of ist most informative indicators correlating with parameters of spirometry and body plethysmography.

Materials and methods. Patients with the established diagnosis of mild asthma (n=68) were examined. In 71% of patients, obstructive respiratory dysfunction was revealed. In the control group (n=41) there were no abnormalities.

Results. In most of patients with revealed via spirometry and body plethysmography obstructive disturbances the increase in indicators of absolute frequency dependence of the resistive component of the respiratory impedance at the oscillation frequency of 5 and 20 Hz (Rrs5-Rrs20) and the reactance area (AX). Increase in Rrs5-Rrs20 was revealed in 48 (71%) patients and the increase in AX was observed in 44 (65%) of the surveyed, patients with 42 (61%) patients without the increase of reactance (Xrs5) and resistance (Rrs5).

Conclusion. The absolute frequency dependence of Rrs5-Rrs20 and AX are the most informative parameters of impulse oscillometry. In some patients the IOM findings were more significant in comparison with spirometry ones.

The objective. The assessment of the severity, prevalence and five-year dynamics of anxiety and depression in those studied with rheumatic heart disease.

Materials and methods. The study included 168 patients with rheumatic heart disease: mean age 58,69±0,47 years; 141 women (83,93%) and 27 men (16,07%). To assess anxiety and depression, the following scales were used: HADS (hospital anxiety and depression scale), CES-D (depression scale of the epidemiological research center), and STAI (Spielberger anxiety scale). Quality of life was assessed using total scale SF-36 (Short Form Medical Outcomes Study), KCCQ (Kansas questionnaire for patients with cardiomyopathy), and MHFLQ (Minnesota questionnaire for the quality of life of patients with CHF).

Results. Initially, patients with rheumatic heart disease had mild depression and anxiety, except for the high level of state anxiety according to STAI — 48.00 ± 0.95. More pronounced depressive disorders were revealed in patients with CHF NYHA III and IV. According to CES-D — 17,58±1,27 for FC I and 23,4±0,75 for FC IV, for HADS — 7,00±0,64 for FC I and 13,6±0,78 for FC IV. Anxiety disorders, on the contrary, were less with III and IV FC CHF: 8,5±0,49 with FC I and 8,2±1,02 with FC IV in HADS. According to STAI state anxiety — 47,58±1,22 (FC I) and 42,8±1,76 (FC IV), for trait anxiety — 42,67±1,08 (FC I) and 40,4±1,85 (FC IV). For the five-year period there was no negative and positive dynamics according to the questionnaires of anxiety and depression. The only exception was the increase in anxiety according to HADS by 0.66 points. In terms of quality of life, there was a decrease in physical health according to SF-36 by 1.78, and in overall summary score according to KCCQ by 1.55 and MHFLQ by — 3.99.

Conclusions. In patients with rheumatic heart disease, the severity of anxiety and depression is insignificant and does not increase during five years of observation. Indicators of depression are more pronounced in the group with CHF NYHA III and IV, and anxiety indicators in patients with CHF NYHA I and II. An increase in depression rates in subjects with rheumatic heart disease is associated with a deterioration in the quality of life. With an improvement in the quality of life values, depressive symptoms decrease, and anxiety rates increase.

The article presents information on the methods of diagnosis and targeted therapy of chronic myeloid leukemia (CML). A clinical case of CML with the development of resistance to therapy with 1st generation tyrosine kinase inhibitors (ITK), the appointment of 2nd generation ITK (dasatinib) with regard to comorbidity, the development of adverse events in the form of fibrosing alveolitis and severe pleurisy, translation of nilotitis in the form of fibrosis of the alveolitis and severe pleurisy is considered, but the lack of effect of treatment. The study of the mutational status revealed a BCR-ABL Y253H mutation, which made it possible to individualize the patient’s therapy, obtain a large molecular response, and overcome undesirable phenomena. The development of resistance or the loss of response to the treatment of ITK in CML with comorbidity requires the timely identification of mutations in the kinase domain of BCR-ABL and contributes to the selection of early personalized therapy for a particular patient.

The objective of the study — to describe a clinical case of severe juvenile-onset ankylosing spondylitis in a patient with persistently recurrent uveitis.

Materials and methods. Patient I., 43 years old, was constantly monitored since the age of 26 at the Department of Reumatology of the Saratov Regional Clinical Hospital with ankylosing spondylitis, an early onset of exstra-skeletal manifestations in the form of frequently recurring uveitis, and a number of complications.

Results. Some complications, which caused complete loss of vision in both eyes, occurred during the observation period due to poor treatment adherence.

Conclusion. The clinical observation presents some features of the disease, course treatment and the development of complications in the patient with ankylosing spondylitis and recurrent uveitis.