Vol 42, No 1 (2025)
- Year: 2025
- Published: 12.02.2025
- Articles: 20
- URL: https://permmedjournal.ru/PMJ/issue/view/12850
Full Issue
Review of literature
Arterial hypertension in the post-Covid period: literature review
Abstract
During the pandemic of the new coronavirus infection, the most common comorbid pathology in patients with laboratory confirmed cases of COVID-19 was arterial hypertension (AH) due to the participation of the renin-angiotensin-aldosterone system components in the penetration of the SARS-CoV-2 virus into the human body and the similarity of the pathogenesis of these diseases. One of the manifestations of post-Covid syndrome in АН is destabilization of blood pressure, insufficiency of antihypertensive therapy effectively conducted before, uncontrolled hypertension, requiring intensified therapy, the development of resistant hypertension in some cases, high incidence of target organs damage. The frequency of new cases of hypertension 3 and 4–6 months after COVID-19 was low.



Chronic heart failure with preserved ejection fraction: current understanding of the problem
Abstract
This review is aimed at the investigation of diagnostic approaches and therapeutic options for patients with chronic cardiac insufficiency with preserved ejection fraction.
Chronic cardiac insufficiency with preserved ejection fraction can result from various cardiovascular diseases and is observed in more than 50 % of patients with chronic circulatory failure. Although clinical guidelines exist, the criteria for diagnosing this form of heart failure do not always allow to detect the disease accurately, which can affect subsequent treatment negatively. Modern randomized clinical trials demonstrate that medications from the group of sodium-glucose cotransporter type-2 inhibitors significantly improve clinical outcomes in patients with circulatory failure, justifying their inclusion in treatment regimen. However, the optimal time for starting this therapy is still questionable compared to the administration of other medications recommended for chronic cardiac insufficiency.
Considering high incidence, difficulties in diagnosis and treatment for circulatory failure with preserved ejection fraction in practice, the development of practical algorithms for detecting and managing this condition is one of the most important tasks.



Original studies
Dynamics of dental preservation indicators in patients with diabetes mellitus
Abstract
Objective. To determine sex and age differences in dental preservation in diabetic patients.
Materials and Methods. 218 charts of patients with DM were selected from 4887 medical records of dental patients who visited the Republican Dental Polyclinic of Izhevsk in 2021–2023; the comparison group was formed according to the “case – control” principle. Subgroups were formed according to the WHO classification: middle, elderly and old age. The number of missing and preserved teeth, the location on the jaws, and the class of the denture defect were evaluated.
Results. The main contingent of the municipal dental polyclinic consisted of people of retirement age – 80.7 %, working patients – 16.0 % and non-working – 3.3 %. Patients with DM amounted to 5.5 %, 93.3 % of whom were elderly and senile persons, predominantly women (75.0 %, p≤0.001). The number of extracted teeth in diabetic patients was 13.7 ± 0.8 in middle age, 14.4 ± 0.6 in elderly and 15.5 ± 0.95 in old age, which was 1.5 times larger than in the comparison group, with higher rates in the middle age group in women and on the contrary lower rates in the old and elderly age groups (p≤0.01). Tooth preservation in patients with DM was 1.5 times lower and decreased with age: on an average – 23.8 ± 7.3 points, in elderly age – 26.6 ± 2.5 and in senile – 22.2 ± 2.5 (p≤0.01). The scores of women with diabetes were higher, especially in the elderly patients (p≤0.001). Complete absence of teeth was observed in 89.9 % of patients with DM, more frequently on the upper jaw (p≤0.001).
Conclusions. In patients with diabetes mellitus tooth loss occurs more quickly and is not associated with age-related changes, which is confirmed by the pronounced correlation between the absence and preservation of teeth, while in healthy patients a significant relationship between the age and the absence of teeth was established.



Perinatal health features of children born with the help of reproductive technologies
Abstract
Objective. To assess the health indicators of infants born as a result of natural conception and those born using assisted reproductive technology – in vitro fertilization (IVF).
Materials and methods. Birth and development histories of 25 premature babies have been studied. All of them had been conceived with IVF and were in therapy in the Department of Pathology of newborns and premature infants of Children's Clinical Hospital №13, Perm. In a “case–control” study 2 groups of children were studied, group 1 consisted of babies born through IVF; group 2 – children born as a result of pregnancy that occurred naturally, then the health of these groups was investigated (according to certain data), next the results of the investigation were compared between the two groups. In both groups, obstetric and gynecological history data, Apgar scale indicators were studied, newborns’ body weight, cerebral ischemia were assessed, and biochemical parameters such as total bilirubin, alkaline phosphatase, gamma-glutamyltranspeptidase were analyzed. The absolute values are calculated in the form of the arithmetic mean (M) and the standard deviation (SD). Statistical processing was carried out with StatSoft Statistica 12.6 software, using the nonparametric Mann – Whitney U-test as the data distribution differs from the normal one. Statistically significant differences were considered at p < 0.05.
Results. It was determined that the proportion of infants with very low body weight (BMI) was higher in the IVF group – 24.0 % (6 children) compared to the control group, where the number of those was 5.0 % (1 child), but these differences did not reach the level of statistical significance (p>0.05). Apgar score on the 5th minute of life, as well as at birth, in the group of newborns conceived with IVF, was validly higher – 8.24 ± 0.09 points opposite to 8.10 ± 0.12 points in children born as a result of natural pregnancy (p<0.05). The analysis of frequency of pathological conditions in newborns showed that there were no significant differences between the groups (p>0.05).
Conclusions. Children conceived through assisted reproductive technology IVF are more likely to be born with very low body weight than babies conceived naturally. Anthropometric characteristics and Apgar score do not differ from those of children born as a result of natural conception. In the newborn period, they have more pronounced cholestasis syndromes, however both groups are comparable in terms of the incidence of the main newborn pathologies. Thus, it cannot be stated that children conceived through IVF are much inferior in health criteria to those infants who were conceived and born naturally.



On the issue of preeclampsia screening efficiency
Abstract
Objective. To analyze the risk factors for the development of preeclampsia and assess their role in predicting this complication on the basis of a retrospective analysis of medical records data.
Materials and methods. A retrospective analysis of the medical records of 55 patients who ended their pregnancy was carried out. The patients were divided into 2 groups: the first group consisted of 33 puerperal women diagnosed with preeclampsia, the second group included 22 patients without hypertensive complications. A comprehensive assessment of clinical and anamnestic risk factors, as well as the data analysis of the comprehensive screening of the first trimester were carried out.
Results. The analysis of the data obtained showed that an increase in the level of average blood pressure in the first trimester is an important risk factor for the development of hypertensive disorders in the second half of pregnancy (p<0.05). The analysis of clinical and anamnestic risk factors revealed that preeclampsia was significantly more common in the first pregnancies , and in patients with a history of antenatal fetal death (p<0.05). According to the results of routine risk calculation in the first trimester using software, a high risk for developing preeclampsia was determined only in 16% of cases of pregnant women from the first group,
Conclusions. Despite the widespread use of comprehensive screening programs for preeclampsia, the problem of predicting it currently remains unsolved. Particular attention should be paid to a multivariate approach based on the assessment of the combination of factors, since no single marker is able to provide high sensitivity screening when isolated.



Features of microcirculatory disorders in patients with complicated diabetes mellitus
Abstract
Objective. To assess microcirculatory disorders in patients with diabetic nephropathy and diabetic foot syndrome using the method of local skin thermometry.
Materials and methods. 55 women with type 2 diabetes mellitus (group 1) (type 2 diabetes mellitus) with diabetic foot syndrome (DFS) and 261 patients with diabetic nephropathy (DN) (group 2) were examined. Control group (group 3) consisted of 125 patients without diabetes. The method of local skin thermometry was used to assess the microvasculature condition.
Results. The response to local skin heating in patients with DFS differed from those of the control group. Vasodilation indices in the endothelial, neurogenic frequency range are inversely proportional to carbohydrate and lipid metabolism indicators. In patients with diabetes mellitus, carbohydrate metabolic disorders are associated with body mass index, duration of the disease, indicators of atherogenic fractions of the lipid spectrum and tactile sensitivity of the lower extremities.
Conclusions. The response to local skin heating in patients with DFS differed from those of the control group and was characterized by an increase in vasodilation indices, in women with DN the ratio in endothelial and neurogenic frequency range was reduced. An inverse relationship between vasodilation indices and carbohydrate and lipid metabolism indicators was revealed.



Risk prediction for development of benign ovarian tumors in postmenopause
Abstract
Objective. To calculate the risk prediction of benign ovarian tumor (BOT) development in postmenopausal patients.
Materials and methods. 60 postmenopausal women participated in the prospective study. The patients were divided into 2 groups: the main group which included women with BOT and comparison group – patients with no neoplasms of the uterine appendages. The clinical and medical history data were assessed, laboratory tests (vitamin D level, insulin-like growth factor 1, leptin, zinc, estradiol, testosterone, sex steroid-binding globulin, cancer marker 125) were performed, results of instrumental methods of examination (pelvic ultrasound) were analyzed as well as surgical treatment protocols and histological studies. Regression analysis of the data obtained was carried out, statistically significant features were determined and the mathematical model for the risk prediction of the development of BOT in postmenopause was created.
Results. The investigation showed that an isolated assessment of the studied laboratory markers has no statistical significance for determining the risk of developing postmenopausal ovarian tumors; a multifactorial approach is relevant, that is assessing a combination of factors.
Conclusions. The developed mathematical model for predicting the development of postmenopausal ovarian tumors demonstrated an increase in the effectiveness of risk prognosis for developing postmenopausal ovarian tumors in postmenopausal patients, the sensitivity of the developed method was 95 %, specificity 85.7 %.



Practical aspects of endometriosis treatment in patients of reproductive age
Abstract
Objective. To compare the effectiveness of various methods of combined treatment of patients with ovarian endometriosis.
Materials and methods. The results of a retrospective study of clinical manifestations and effectiveness of various drugs for the treatment of patients with ovarian endometriosis in the postoperative period are presented in the article. All patients were divided into 4 groups: group I included patients who were treated for endometriosis with dienogest (n = 29), group II consisted of patients who received combined oral contraceptives with gestogen component represented by dienogest (n = 38), patients from group III were administered gonadotropin-releasing hormone agonists (GnRH a) "Buserelin-depot" 1 injection per month for a 6-month course (n = 15); 94 patients from group IV had a history of endometriosis, but did not receive hormone therapy for various reasons.
Results. The study revealed more women with fertility disorders in group IV – up to 43.6 ± 10.0 % (p < 0.001), primary and secondary infertility lasting up to 4.7 ± 1.2 years was noted. Patients who received hormone therapy had a more realized reproductive history than those who refused treatment for various reasons. Dysmenorrhea incidence was higher in patients who did not receive hormone therapy - up to 24.5 ± 8.7 %, chronic pelvic pains were more frequent in women from group IV (patients who did not receive hormone therapy) as well - up to 83.0 ± 7.6 %. In patients treated for endometriosis with dienogest and GnRH agonists (Buserelin-depot) the longest relapse-free period was noted.
Conclusions. The study showed that the results of the medication therapy, carried out for external endometriosis, ovarian endometriosis in particular, in the postoperative period, were different. The use of GnRH agonists and dianogest in postoperative treatment effectively reduced the frequency of endometriosis recurrence in women.



COVID-19 immune trace: predictors of rheumatoid arthritis development
Abstract
Objective. To assess the effect of coronavirus infection on the development of true arthritis in patients with post-COVID joint syndrome
Materials and methods. Factors contributing to the development of true rheumatic disease in patients with confirmed coronavirus infection were evaluated in a prospective cohort study. General clinical and immunological tests, including markers of rheumatoid arthritis were determined.
Results. On the basis of the results of this study, it was found out that COVID-19 may act as a trigger for autoimmune diseases.
Conclusions. The results of the study indicate the trigger role of COVID-19 in the development of autoimmune diseases. Preventive measures aimed at early detection of rheumatoid arthritis among patients with SARS-COV2 are control of leukocyte count and rheumatoid arthritis markers. A follow-up with a rheumatologist with a periodic monitoring of clinical and immunological parameters is recommended if joint syndrome is revealed.



Methods of diagnosis and technologies
A method of predicting fibrosis risk in women with non-alcoholic fatty liver disease and postmenopausal obesity
Abstract
Objective. To develop a method of predicting fibrosis risk in women with non-alcoholic fatty liver disease (NAFLD) and postmenopausal obesity.
Materials and methods. 70 patients with NAFLD and postmenopausal obesity with an average age of 51.0 (49.0–52.0) participated in the study. Hepatic steatosis signs were confirmed by ultrasound examination after other causes of its development had been excluded. The count of thrombocytes, glucose concentration, aspartate aminotransferase (AST) and alanine aminotransferase (ALT) activity were determined and body mass index (BMI), steatosis index HSI and fibrosis indices APRI and FIB4 were calculated in all the patients.
Results. The patients with NAFLD and postmenopausal obesity were divided into 2 groups: with a high fibrosis risk and with a low one. Women with a high fibrosis risk were significantly older (р=0,044), had a lower number of thrombocytes (р<0,001), and a higher glucose concentration (р=0,046) and transaminase activity. We selected 4 signs that significantly affect the probability of fibrosis and calculated the predicted risk of its development using the formula:
Y = 0.4258 – 0.0038 · platelets + 0.0567 · glucose + 0.0350 · AST – 0.0110 · ALT, where Y (rounded to a whole) is a predicted risk of fibrosis formation in patients with NAFLD and postmenopausal obesity. With Y ≥ 1 the risk of fibrosis formation is predicted in this cohort, and there is no risk when Y value is < 1. The sensitivity and specificity indicators of this method were 100 % and 97.5 %.
Conclusions. The suggested method for predicting the risk of fibrosis in NAFLD includes available laboratory tests, has good diagnostic characteristics, no "grey area" and is developed for the risk group (postmenopausal women). Its use will expand the possibilities of minimally invasive diagnosis, ensure earlier detection of the risk of liver fibrosis in this risk group, which will help to determine the further tactics of these patients’ management.



Digital method of chewing efficiency analysis in the orthopedic dentistry clinic
Abstract
Objective. To develop and implement to a daily clinical appointment at the orthopedic dentistry clinic «MastiKad3D» proprietary software using our own digital sieve chewing test to determine chewing efficiency.
Materials and methods. To develop and implement our own «MastiKad3D» software using our own digital sieve chewing test for determining chewing efficiency, a comparative analysis according to the literature data was carried out, and criteria for evaluation of the most available and common dynamic sieve chewing tests were formed. On the basis of the analysis, we developed a protocol for conducting our own digital dynamic chewing test and «MastiKad3D» software to calculate chewing efficiency.
Results. As a result of the study, we identified a reference value of the "norm" of chewing ability in persons with preserved dentition in physiological occlusion, which allows us to assess chewing efficiency using the developed «MastiKad3D» software applying digital sieve chewing test.
Conclusions. The software «MastiKad3D» with application of the developed method to determine chewing efficiency allows to carry out a reliable study of dentoalveolar apparatus functioning, due to the analysis of a three-dimensional image of the test portion and the data on chewing ability "normal" value obtained.



Preventive and social medicine
Assessment of the respiratory system condition in tractor drivers of agricultural production
Abstract
Objective. To assess the state of the respiratory system of agricultural tractor drivers for the further substantiation of target programs for bronchopulmonary diseases prevention.
Materials and methods. During the medical examination of 168 agricultural tractor drivers, a spirometric functional assessment of the respiratory system state was carried out, medical and social aspects of life, anthropometric data with calculation of body mass index, allergic anamnesis, and the presence of confirmed respiratory diseases were studied. The median age of agricultural machine operators was 51 [41; 58] years, the median professional experience was 20 [10; 32] years. A hygienic assessment of work-related factors was carried out using Statistica 10 software package for statistical analysis.
Results. It has been determined that harmful production factors that negatively affect the respiratory system are silicate-containing dust, harmful chemicals of hazard classes I–IV, and unfavorable microclimatic conditions. 15.2 % of workers are registered at the dispensary with a confirmed respiratory disease of non-occupational genesis. 11.2 % of workers not diagnosed with any respiratory disease complained on some symptoms of this system. Chronic bronchitis significantly more often occurs in people with abdominal obesity than in people without it (16.1 and 4.0 %, respectively, p = 0.039) and in patients with allergies than in those with negative allergic history (25.0 and 9.6 % respectively, p = 0.033). Impaired respiratory function according to spirometry results was revealed in 36.3 % of workers. Statistically significant differences in spirometric readings and the proportion of persons with deviations in the results of spirometry depending on age, abdominal obesity, and allergies were not revealed (p>0.05). Statistically significant lower values of FEV1 and FEV1/VC and the proportion of persons with deviations in spirometric readings in the group of smoking agricultural tractor drivers were determined.
Conclusions. A large incidence of non-occupational bronchopulmonary diseases associated with abdominal obesity and positive allergy history, and a considerable proportion of workers with external respiratory function disorder according to spirometry readings, associated with smoking status, were revealed. The lowest spirometric indicators and the largest proportion of people with abnormal spirometry results were registered in the youngest age group and among workers with little work experience. Taking into account the regional limitation of the study and the small number of workers examined, further study in this field is required.



The incidence of whooping cough in children in the astrakhan region: a retrospective study
Abstract
Objective. To determine the dynamics of whooping cough incidence in children in the Astrakhan region (AR) for the period 2000–2023.
Materials and methods. The sources of information were statistical data from the Center for Hygiene and Epidemiology on the incidence of whooping cough in the territory of AR for 2000–2023, a retrospective analysis of 40 medical histories of infants with a confirmed diagnosis of whooping cough hospitalized to the Regional Infectious Diseases Hospital named after A.M. Nichoga for the period 2020–2023 was carried out.
Results. It was determined that the total number of infants diagnosed with whooping cough in the AR in the period 2000–2023 was 770 cases, 134 (17.4 %) of them with an average number of 22.3 ± 4.1 (2.9 %) cases per year were revealed in 2000–2005; 198 (25.7 %) – in 2006–2010, i.e. – 39.6 ± 4.8 (5.1 %) per year; 54 (7 %) – 13,5 ± 3,7 (1,7 %) in 2011–2014; 208 (27 %) – 41,6 ± 8,5 (5,4 %) in 2015–2019; 20 (2,6 %) – 6,7 ± 4,2 (0,87 %) per year in 2020–2022; and 156 (20.3 %) cases in 2023. It can be assumed that the increase in the incidence of whooping cough was accompanied by its decrease in subsequent years due to an increase of the immune layer in infants and collective immunity of other age groups. The low incidence of whooping cough in 2020–2022 could contribute to a decrease in collective immunity among the population of the region and, as a result, an increase in the incidence of the disease in children. The incidence rate of whooping cough in 2023 was 49.2 per 100,000 people, which is 1.4 times higher than the national rate. According to the results of the analysis of the clinical symptoms of whooping cough in infants, severe forms of the disease were found in 22 (55 %) of the 40 patients included in the study.
Conclusions. Severe forms of whooping cough in infants were observed in 55 % of cases, complicated – in 40 %. The decrease in pertussis vaccination coverage for children and adults in contact with infants is one of the reasons for the decrease in collective immunity and the increase in the incidence in infants of the region.



Doctor-patient interaction at the outpatient stage: effective communication as a factor of treatment quality
Abstract
Objective. To study the problems of effective communication between the doctor and the patient at the outpatient stage of medical care and suggest some ways to solve them.
Materials and methods. An online survey of 309 people (119 doctors and 190 patients) was conducted. The questionnaires concerning the appearance of the doctor, his verbal and non-verbal skills contained 34 questions each. Such research methods as analysis, synthesis, questionnaires, as well as the statistical method are used in this study.
Results. Patients most often complain about doctors’ indifferent attitude to their problems, when communicating with medical staff. Many respondents are dissatisfied that the doctors do not emphasize the importance of a healthy lifestyle, which, in their opinion, is due to the fact that most doctors do not realize the significance of a lifestyle modification in disease prevention. Patients' responses also often noted a lack of nonverbal reinforcement of words during the consultation. It may seem an insignificant element of professional communication, but it turned to be of a great importance for many patients.
Conclusions. When providing medical care at the outpatient and polyclinic stage, the level of a primary healthcare physician’s communication competencies is of great importance. Physicians’ good communication skills not only allow to create comfortable and trusting relationships with patients, but also increase the quality of medical care significantly, which will improve the treatment results.



Dynamics of thyroid cancer incidence in some regions of the Russian Federation (Leningrad, Saratov and Samara regions) over the last 10 years
Abstract
Objective. To carry out a comparative analysis of the dynamics of thyroid cancer incidence in some regions of the Russian Federation (Leningrad, Saratov and Samara regions) over the last 10 years.
Materials and methods. Statistical data from the official statistical reports of the Ministry of Health of the Russian Federation for the Leningrad, Saratov and Samara regions, were analyzed and compared with the data of the literature available on the studied problem from the open statistical and information databases ELibrary.Ru, Web of Science, PUBMED.
Results. The conducted study revealed a number of important trends and regularities in the dynamics of thyroid cancer incidence in the Russian Federation. On the basis of the data obtained we can draw a conclusion that thyroid cancer is a relatively rare disease, but the dynamics of its prevalence is inexorably growing.
Conclusions. The obtained results can be used to develop more effective measures for prevention and early diagnosis of thyroid cancer. For timely detection of possible changes and development of effective preventive and treatment measures, it is necessary to continue monitoring the incidence of thyroid cancer all over the country.



Clinical case
Successful closure of esophagogastric anastomotic leak using endoscopic vacuum therapy
Abstract
A clinical case of a 67-year-old female patient with esophagogastric anastomotic leakage after proximal gastrectomy for cancer of the cardiac portion is presented. The complication manifested itself as acute right-sided pleural empyema on the 12th day after the surgery. After the pleural cavity drainage and primary sanitation of the empyema, endoscopic installation of a vacuum system equipped with an open-pore sponge was chosen as a technique for closing the anastomotic defect. This system was operating for 10 days, gradually reducing the amount of the exudate discharged. There was no need to replace the drainage, since endoscopic examination revealed good regeneration in the area of the anastomotic defect. Intensive therapy, along with drainage and sanitation of sources of inflammation, ensured stabilization of the patient’s general condition and healing of the anastomosis. This clinical observation demonstrates the effectiveness of endoscopic vacuum therapy in treatment of esophageal anastomotic leaks and the prospect of its use in difficult cases associated with defects and fistulas of the gastrointestinal tract.



Clinical and epidemiological features of congenital syphilis with antenatal fetal asphyxia
Abstract
Syphilis is a systemic venereal disease that causes skin, mucous membranes, internal organs and musculoskeletal system lesions, and damages the fetus in the womb. The fetus is infected in the 16th–20th weeks of pregnancy, mostly transplacentally. The outcomes of congenital syphilis are miscarriages, stillbirths, premature births, the birth of a child with active and latent course of syphilis, and the birth of a healthy child.
A clinical case of untreated congenital syphilis with antenatal fetal asphyxia is presented. First of all, the attention is drawn to the aggravated obstetric anamnesis: the first and second pregnancies ended in intrauterine fetal asphyxia and therefore a non-developing pregnancy. In the 8th–9th weeks of the current pregnancy antibodies to Treponema pallidium were detected – IgG, M, titer 1:1280, and a consultation with a dermatovenereologist was recommended. However, during the entire pregnancy period, no dermatovenereological examination, tests or treatment measures were carried out. Concomitant trichomoniasis and acute respiratory viral infections in a mild form were revealed and sanitized twice. At 27 weeks of pregnancy, antenatal fetal asphyxia was determined by ultrasound examination. The autopsy of the fetus revealed intrauterine pneumonia, and the postmortem examination of the placenta – pronounced dystrophic changes specific to congenital syphilis.
This case demonstrates that ignoring the dermatovenereological therapeutic and diagnostic measures which were required, contributed to the disease progression and resulted in the development of antenatal fetal asphyxia. Timely detection and correction of all existing changes are necessary for a favorable course of pregnancy.



A family case of Shwachman-Diamond syndrome in children with a rare genetic variant of the SBDS gene с.653G>A (p.Arg218Gln)
Abstract
Shwachman – Diamond syndrome is a hereditary ribosomopathy which is manifested by exocrine pancreatic insufficiency, hematological disorders, stunted growth and bone deformities. The pathology is caused by mutations in the SBDS gene. Early detection of the disease and timely treatment, including the use of enzyme preparations, specialized nutrition and granulocytic colony-stimulating factors, contribute to improving the patients' quality of life and prognosis.
A clinical case of a family manifestation of this syndrome is presented in the article. The diagnosis was made and confirmed by a genetic study only at the age of 1. From birth, the girl had clinical manifestations of atopic dermatitis, with a torpid course to therapy, characteristic stools, changes in the general blood test (GBT) in the form of leukopenia and neutropenia of varying severity, changes in the biochemical blood test (BCBT) in the form of increased liver enzymes. Also, the patient has an 8-year-old elder sister with similar changes in the GBT. To exclude the presence of pathogenic genetic variants of the SBDS gene in the cis-position, the girl's parents were examined.
A pathogenic variant of the SBDS gene C.258+2T>C in a heterozygous state was revealed in the girl's mother, while the father had the variant C.653G>A (p.Arg218Gln) in a heterozygous state. Taking into account the hereditary nature of the disease, the girl's elder sister underwent a genetic examination as well at the age of seven. The study also revealed two pathogenic variants of the SBDS gene C.653G>A (p.Arg218Gln) and C.258+2T>C in a compound heterozygous state. Thus, SDS in the child was confirmed by genetic methods of examination.
The case described in the article is aimed at attraction the pediatricians' attention to the correct assessment of GBT indicators (knowledge of age-related norms of the blood cells count and age-specific features of the leukoformula), the ability to count the absolute number of granulocytes. To clarify the nature of neutropenia (congenital, acquired), it is necessary to evaluate the GBT results in dynamics.



Anniversaries



Professor Alexander Sergeevich Lebedev: contribution to the development of perm therapeutic school (on the 140th anniversary of his birth)
Abstract
The article is dedicated to the 140th anniversary of Alexander Sergeevich Lebedev – a Doctor of Medical sciences, Professor, the Head of the Department of Hospital Therapy. In 1908 he graduated with honors from the Military Medical Academy in Saint-Petersburg and began his scientific and teaching career. His talent and diligence were highly appreciated in the scientific community. After receiving an invitation to take up the position of the Head of the Department of Hospital Therapy of the Medical Faculty of Perm University, he with his family moved to Perm. Thousands of specialists were educated in the Medical University during Lebedev’s time, more than twenty researchers graduated under his guidance. Alexander Sergeevich was an active public figure, he was repeatedly elected as a City Council deputy and served as the chief therapist of the city.


