Репозиторий Университета

© 2018 Ima-Press Publishing House. All rights reserved. Cognitive impairment (CI) is a basis for the clinical presentation of chronic cerebral ischemia (CCI). However, the role of the mechanisms of inflammation and angiogenesis in the origin of CI is unclear, as is its relationship to the number and localization of foci during a neuroimaging examination. Objective: to investigate the relationship between the presence of CI, focal brain tissue changes, and the plasma and serum levels of vascular endothelial growth factor (VEGF) and monocyte chemoattractant protein-1 (MCP-1) in patients with CCI. Patients and methods. Examinations were made in 59 patients with CCI and in 20 apparently healthy individuals. The investigators evaluated the cognitive status using the Mini-Mental State Examination (MMSE) and the clock drawing test), performed brain magnetic resonance imaging (MRI), duplex scanning of cerebral vessels, and determined laboratory indicators: the serum levels of MCP-1 and C-reactive protein, and the serum and plasma concentrations of VEGF. Results. The patients with CI were found to have higher values of inflammatory markers, lower serum and plasma concentrations of angiogenic factors, and a greater number of focal changes on MRI than those without CI (5.06±0.23 and 2.36±0.3 scores, respectively; p(0.05). Imbalance of angiogenic and antiangiogenic factors can cause disease progression and moderate vascular CI in patients with CCI.

© 2018 Publishing House of the Union of Pediatricians. All rights reserved. Background. There are limited data on the efficacy of long-term enzyme replacement therapy (ERT) in children with mucopolysaccharidosis (MPS). Objective. Our aim was to study the efficacy and safety of long-term ERT in children with MPS type I, II and VI. Methods. We analyzed the results of ERT with laronidase, idursulfase and galsulfase in children with MPS type I, II and VI admitted to the federal research center from January 2007 to November 2016. The response rate was assessed by the level of normalized urinary excretion of glycosaminoglycans (GAGs) (the ratio of GAGs concentration to urine creatinine) recalculated in percent (%) exceedance of the upper limit of normal for the corresponding age. Data on the administered therapy and its results, including adverse events, is extracted from the medical records of in-patients. Results. The results of treatment (intravenous infusions, intervals between administrations from 4 to 10 days) were studied in 33 children (5 of them were girls) with MPS type I (n =4; laronidase at a dose of 0.58 mg/kg), II (n =26; idursulfase at a dose of 0.5 mg/kg), and VI (n =3; galsulfase at a dose of 1 mg/kg). A decrease in the normalized urinary excretion of GAGs from 376% (172; 791) to 54% (0; 146) exceedance of the upper limit of normal for the age (p <0.001) was noted in the course of ERT lasting (median) 27 (14; 41) months. A decrease in the normalized GAGs excretion below the upper limit of normal for the age was established in 12/33 (36%) patients. ERT-associated adverse events were identified in 12 patients; one case required a two-fold therapy interruption. The development of nephrotic syndrome in the course of ERT in patients with severe MPS II was first described. Conclusion. Long-term ERT in children with MPS type I, II and VI is characterized by acceptable efficacy and safety.

© 2018 Media Sfera. All Rights Reserved. Purpose: to assess the neurophysiological effect and clinical effectiveness of transcranial direct current stimulation in combination with drug therapy in amblyopic children. Material and methods. The study involved 32 healthy children in the age of 5-12 years and 97 patients of the same age with refractive strabismic amblyopia. All study subjects underwent standard examination including ophthalmological (visometry, refractometry in normal conditions and in cycloplegia, biomicroscopy, ophthalmoscopy, type of vision), neurophysiological methods (determination of retinal electric sensitivity threshold, electric lability of optic nerve, amplitude and latency period of visual evoked potentials, electroencephalogram wave amplitudes, localization of peak electrical activity area of the cerebral cortex), assessment of neuropsychic development and estimation of mental development coefficient with age tests. Results. Dynamics of neurophysiological parameters shows that healthy children develop fully functional retina, visual cortex and cortical-subcortical connections by 12 years. Children with refractive strabismic amblyopia in all age groups show statistically significant (p<0.05) deterioration of neurophysiological parameters of the visual analyzer, retardation of corticalsubcortical connections formation and lower electrical activity of the cerebral cortex. Amblyopic children show lower coefficients of mental development accompanied by intellectual deficiency and deterioration of learning ability. Proposed treatment method improved neurophysiological parameters of the visual analyzer in 83.5% of cases and increased visual acuity in 81.4% of cases. Improvement of psychological development resulted in better logical thinking, memory reinforcement and better adaptation to school educational environment in 86.6% of children.

© 2018 Media Sphera Publishing Group. All rights reserved. The objective of the present study was to elucidate the characteristic features of the injuries inflicted to the victims of a road traffic accident inside the passenger compartment of a moving car equipped with the modern personal safety systems. The materials available for the present work included the lesions documented in 210 drivers and 150 occupants of the car passenger compartments. Both comparative, morphometric and statistical methods were used to analyze the data obtained. The morphometric analysis included identification of the form of the injury, such as extravasation, wounds, fractures, and lesions of the internal organs (e.g. hemorrhages, ruptures, etc.), their number and localization. Special attention was given to the specific features of the injuries to the occupants of the cars equipped with the modern personal safety systems. The study has demonstrated that the form, frequency, and localization of the injuries inflicted to the victims of a road traffic accident inside the passenger car compartment (including the drivers and other occupants) can be used for determining the positions of the victims at the moment of the accident.

© SN Puzin et al. In this article, we are looking at the stages of reorganisation of medical expert commissions into workplace health expert committees (WHEC). Classification of disability, according to which a disabled person could be assigned to one of three groups, is proposed. This classification regulated the criteria for the establishment of each group in accordance with the indications for employment. The Regulation on the WHEC, approved in 1942, practically became fundamental for all subsequent regulatory documents on the activities of the WHEC. According to this Regulation, the WHEC was able to grant certificates stating that the disability is related to being at the front. A new category of people with disabilities was created – the veterans of the Eastern Front of World War II. The Regulation on the WHEC, introduced in 1948, expanded the functions and powers of these services. The categories of people who had to be assessed by the WHEC were determined. Since 1955, the inpatient examination and the work of specialised (tubercular and psychiatric) WHEC have been organised. During 1956–1984 WHEC received the authority to set the time of the onset of disability to address the issue of pension benefits for people previously recognised as being disabled. The dates for the re-examination of people with disabilities were established. In 1956, a new Regulation on the WHEC was introduced. According to this document, as recommended by the WHEC, it was possible, in the absence of medical contraindications, for people with disabilities of all three groups to continue working, but under different conditions. During 1940–1960s, a new directive appeared – medical rehabilitation, the basic principle of which was specialised assistance to people with amputations, severe injuries of the skull, brain, spinal cord, and vertebral column. A foundation for the specialisation and improvement of expert doctors was created. The development of the state service of medical and social expertise was carried out in accordance with the new approaches of the World Health Organisation to the definition of disability, based upon the clinical and expert diagnosis of functional disorders and activity limitations.

© 2018 Izdatel'stvo Meditsina. All Rights Reserved. Introduction. Alzheimer's disease (AD) is the most common neurodegenerathe disease in the population. Often, patients with AD have a combined brain lesion of vascular etiology (cerebral microangiopathy). Arterial blood spin labeling (ASL - Arterial spin labeling) is one of the most modem and promising methods for quantifying cerebral perfusion in patients with AD. Objective. To assess regional cerebral blood flow (CBF) using the ASL method in patients with AD with chronic cerebral ischemia - cerebral microangiopathy (CMA) and without it. Material and methods. A group of 20patients (mean age 66 ± 10 years), consisting of 11 patients with AD without CAIA and 9patients with AD with CMA, was examined. The study was conducted on a Siemens Magnetom Skyra magnetic resonance imaging scanner with a magnetic field induction of3T. The examination protocol included an impulse sequence of arterial blood spin labeling. Using the software for postprocessing data processing Olea Medical Sphere 3.0, the indicators of regional cerebral blood flow in various parts of the gray matter of the brain were measured in a manual mode. A neuro-psychological study was performed, confirming a presence of mild to moderate dementia in all patients. Results. A decrease of CBF was revealed in AD patients with CAIA in comparison with AD patients without CMA. The lowest CBF were found in the upper temporal; middle temporal; occipital-temporal; upper frontal and angular gyrus. No correlation was found between CBF measures and neuropsychological results. C onclusion. ASL is a sensitive method in assessing cerebral perfusion in AD patients.

© 2018 Ima-Press Publishing House. All Rights Reserved. Daytime sleepiness is one of the clinically significant non-motor manifestations of Parkinson's disease (PD). One of its insufficiently studied aspects is a relationship between daytime sleepiness and nighttime sleep disorders. Objective: to clarify the clinical characteristics of PD in patients with different types of daytime sleepiness and to estimate of the ratio of daytime sleepiness to clinical and polysomnographic characteristics of nighttime sleep in patients with advanced stages of PD. Patients and methods: The investigation included 110 patients (56 men and 54 women) (mean age, 63.78±0.6 years) with PD (Hoehn and Yahr stage 2.6±0.2; disease duration, 6.3±3.2 years) without dementia. All the patients received therapy with levodopa at a mean daily dose of 667.8 mg; 98 of them had the drug in combination with dopamine receptor agonists at a stable dose. The unified PD rating scale, the PD sleep scale (PDSS), and the Epworth sleepiness scale (ESS) were applied. Nocturnal polysomnography (PSG) and the multiple sleep latency test (MSLT) were performed. Results and discussion: There was daytime sleepiness in 44% of the patients: permanent sleepiness in 15%, sudden daytime sleep attacks (along with low daytime sleepiness (ESS) in 14%, and permanent drowsiness concurrent with sleep attacks in 15%. The PSG findings showed a decrease in sleep efficiency, an increase in the duration of the first stage of sleep, a reduction in the duration of the second and third sleep stages, an extension of rapid eye movement (REM) sleep latency, and frequent awakenings (sleep fragmentation). PSG also demonstrated REM sleep behavior disorders (RBD) in half of the examinees. Patients with sleep attacks differed from those with permanent drowsiness without sleep attacks with more severe sleep disorders (PDSS) and shorter sleep latency (MSLT). Patients with the RBD phenomenon had shorter sleep latency (MTLS) than those without this parasomnia. Patients with moderate or severe sleepiness (ESS scores of >10) differed from those with milder drowsiness (ESS scores of =10) and a lower representation of the third sleep stage. Conclusion: There is evidence for the association of daytime sleepiness in PD with reduced efficiency, changes in the nighttime sleep pattern, and RBD.

© Izdatel'stvo Meditsina. All rights reserved. In the article, an overview of the information on the method and application technology of SWOT (Strengths, Weaknesses Opportunities, Threats) analysis is presented. The specific characters of the method, the object domain of its application, the task, the methodology are disclosed. An interesting idea is the scheme of the options used to achieve more complete benefit from the method. The strengths and the shortcomings of the SWOT analysis noted by experts in the field of its application are given. Further on, the authors propose an innovative technology for using the SWOT model to develop personalized forecasting, preservation, development, and management of health, based on the provisions of the functional direction of genetics - phenomics. The advantages of technology, the urgency of its application are revealed. The new technology is based on provisions of the development of the theory of the essential adaptation. To ensure the state of health the functioning level of the body's systems must be consistent with the optimality, namely with their response norms, which determine the individual phenotype. In the process of the organism adaptation to the conditions of the external environment, the central nervous system (it's a known fact) and the significant body system (the system with the maximum response norm), determining, respectively, the specific and nonspecific responses of the organism will be released by their activity. In the interaction of body systems, it is important to take the ordering into consideration. Dominant systems can actively involve other systems of the body to the process of adaptation according to the principle of the interaction with them, by strengthening or decreasing their activity. Taking into account the direction of interaction (inhibition, toning), this fact becomes important for understanding the pathogenesis of diseases, their targeted prevention, and treatment. A comprehensive record of the mechanisms of the formation of a specific and nonspecific reaction is used in the interest of identifying and effectively preventing functional disorders in the body. The SWOT analysis technology of personalized forecasting, preservation, development and health management eliminates the main drawbacks of SWOT analysis. On the other hand, the SWOT analysis technology helps to expand the range of application of phenomics, depending on the opportunities and threats of the environment.

© 2018 Undersea  &  Hyperbaric Medical Society, Inc. Taking into consideration that a high concentration of oxygen can express toxic effects due to production of reactive oxygen species (ROS), the aim of our investigation was to establish the influence of hyperbaric oxygenation on oxidative stress parameters and antioxidant enzymes in patients with diabetes mellitus (DM) type 2. Investigation included 50 patients with DM type 2 divided into two groups. The first group consisted of 25 patients, mean age 70 years, mean duration of illness 12 years and without manifest peripheral vascular complications (Wagner 0). The second group consisted of 25 patients, mean age 74 years, mean duration of illness 17 years and with manifest peripheral vascular complications (Wagner 1-5). All patients underwent the same therapeutic protocol, which included 10 hyperbaric oxygenation therapies, once a day for a duration of 60 minutes, with an average partial oxygen pressure of 1.7 atmospheres absolute (ATA). In blood samples the following parameters of redox balance were determined: Levels of nitrites (NO2-), index of lipid peroxidation (TBARS), superoxide anion radical (O2-), hydrogen peroxide (H2O2) and antioxidant enzymes superoxide dismutase (SOD) and catalase (CAT). Our results clearly show that hyperbaric oxygen (HBO2) therapy does not have a pro-oxidative effect. Additionally, it seems that this procedure strongly mobilized the antioxidant enzyme system, thus improving defense from oxidative damage. All significant data are marked as P<0.05. Our results have shown that in terms of ROS production, HBO2 can be safe to use in patients suffering from DM type 2 with or without vascular complications.

© 2018 Media Sphera Publishing Group. All rights reserved. Chronic obstructive pulmonary disease (COPD) and its exacerbations remain an important problem of clinical medicine. Aim. To assess the quality of medical care provided in large Russian hospitals to patients with COPD exacerbation. Materials and methods. The study included patients with acute exacerbations of COPD hospitalized into three large clinical hospitals in Moscow. The diagnosis of "COPD exacerbation" was established in accordance with current clinical recommendations. We collected the data about patients’ demography, clinical signs and symptoms, blood gas analysis, chest radiography, drug therapy, oxygen therapy and respiratory support. The follow-up period was 90 days. The obtained data were compared with the data of patients from the multicenter study "European COPD Audit". Results and discussion. The leading clinical symptoms in COPD exacerbation were dyspnea (95.4%) and sputum production (60.7%). The majority of patients with COPD received short-acting β2-agonists (77.4%), systemic steroids (85.1%), antibiotics (79.0%) and theophyllines (48.1%). Noninvasive ventilation was performed in 8.6% of patients, oxygen therapy – in 23,8% of patients, pulmonary rehabilitation – in only 6,2% of patients. Chest radiography was performed in 97.9% of patients, pulmonary function tests – in 79.8%, blood gases analysis – in 19.3% of patients. The mean duration of hospitalization was 18.2±3.9 days, repeated hospitalization within 90 days occurs in 36.2% of patients. In-hospital mortality was 3.3%. Conclusion. Based on the results of the study practical recommendations for improving the quality of medical care in acute exacerbations of COPD are proposed.

© 2018, ABV-Press Publishing House. Attention deficit hyperactivity disorder (ADHD) is the most common cause of behavioral disorders and learning difficulties in preschool and school-age children. Patients with ADHD are often diagnosed with concomitant diseases, which creates additional diagnostic and therapeutic challenges and leads to a more significant reduction in the quality of life. ADHD is often associated with epilepsy: ADHD manifestations are more common in individuals with epilepsy, and vice versa, patients with ADHD are more likely to have epilepsy. The estimated prevalence of ADHD in children is 7-9 %, whereas in children with epilepsy, it reaches 20-50 %. Epilepsy is also one of the most common diseases in children (affecting approximately 1 % of the pediatric population), which is often aggravated by concomitant diseases, including cognitive, behavioral and emotional disorders. Various factors, such as characteristics of epileptic process and lesions in particular portions of the brain, can underlie the development of ADHD in epilepsy. Epileptiform activity and adverse effects of antiepileptic drugs can also play an important etiological role. Some antiepileptic drugs (such as barbiturates) may cause symptoms similar to those in ADHD (in this case, inattentiveness and hyperactivity shall be considered as adverse events that can be reduced or eliminated after cessation of the drug) or exacerbate ADHD symptoms in patients with these disorders. Therefore, the drugs with no negative impact on concomitant diseases or with a positive therapeutic effect for both diseases are preferable in these cases. High prevalence of the ADHD/epilepsy combination leads to a greater reduction in the quality of life, suggesting high relevance of this problem and requiring a revision of therapeutic approaches.

© Bionika Media Ltd. The article presents an explanation of the relevance of using regimens incorporating highly effective antimycotics in modern society, which is dictated by the lifestyle of large cities and the modern generation. After the symptoms of the disease disappear, many patients discontinue a prescribed drug treatment regimen on their own, interrupting the full cycle, which can lead to recurrences and unresponsiveness to treatment in the future.

© 2018 Vserossiiskoe Obshchestvo Kardiologov. All rights reserved. Arterial hypertension is associated with elevated risk of cognition decline and vascular dementia development, as the Alzheimer disease development. Therefore, antihypertension therapy might be of preventive value. The review is focused on literary data that witness on, despite controversial, evidence of cerebroprotective action of the range of antihypertension medications. Especially, dihydropyridine calcium antagonists, diuretics and some blockers of reninangiotensin-aldosterone system. These act not only via blood pressure decrease, but due to additional specific neuroprotective mechanisms. This makes it to consider calcium antagonists and diuretics as a major component of systemic hypertension management, incl. Elderly and senile patients, aiming to prevent cognition decline and dementia of various types development. Nitrendipine, among the calcium channels antagonists, and indapamide among diuretics have acquired the broadest evidence that points on their cerebroprotective properties.

© 2018 Russian Electronic Journal of Radiology.All right reserved. Purpose: To analyze the data available in the modern scientific medical literature on contemporary aspects of the diagnosis, staging and differential treatment tactics in patients with epithelial ovarian cancer. Materials and methods: Research method used in this article is the systematic analysis of the medical literature, including Pubmed and ClinicalTrials.gov. Results: This article attempts to summarize the worldwide experience of modern medicine in management of epithelial ovarian cancer. The current version of the ovarian cancer classification is described. The possibilities of imaging techniques and their place in the staging are determined. The accurate criteria for tumor resectability assessment and the main treatment tactics are given in details. The possibilities of imaging methods in treatment control and monitoring treatment response are provided. The leading imaging modalities for recurrent disease evaluation are delineated. Conclusion: Ovarian cancer is a serious diagnostic challenge in terms of differential diagnosis, staging and selection of optimal treatment strategy. Proper use of visualization modalities allows better management of primary and recurrent ovarian cancer. Moreover, it is necessary to conduct further investigations aimed at developing well-defined diagnostic protocols in monitoring during treatment in order to obtain response evaluation with minimal time delay.

© 2018 by the authors; licensee Modestum Ltd., UK. Objective: The problem of devising an education quality assessment system at a medical higher educational institution has been analyzed in the article. The authors compare the views on the interpretation of the concept of “quality of education”, as well as examine the principles and criteria for the quality of education. A new approach to the internal system for assessing the quality of education at a medical higher education is offered in the article on the basis of the integration of all the components of the pedagogical system. The following components of the internal system of education quality assessment are considered: the conceptual component (forecasting, planning the strategic areas of the educational process development to achieve the quality of education, the mission and objectives), the procedural content component (monitoring at the initial and final stages of the education quality assessment), the self-analysis component (the analysis of students, teachers, department chairs’ activity); the analytical component (visualization of information obtained on the basis of transparency, informational openness of learning and upbringing results, the analysis and elimination of identified shortcomings, the introduction of advanced pedagogical experience into the educational process). Method: The study was conducted at the FSAEI HE I.M. Sechenov First Moscow State Medical University of the Ministry of Healthcare of the Russian Federation (Sechenov University) in the period from February 2011 to March 2017. The sample group size was determined with the use of a special formula. Based on the sample size, 450 respondents were included in the study, and the number of people who would drop out was determined in the sample (n = 429), so the sample was representative in terms of quality and quantity. The students from 1 to 6 years were involved in the study in five training programs of the university who were randomly selected. An original questionnaire was devised. The questionnaire contained some standard questions and special questions on the research topic. Results: The main contingent of students is satisfied with the quality of education at Sechenov University and the level assessment of the quality of education is higher in comparison to other universities, but among the final-year students the assessment of the quality of education compared with other universities does not differ significantly. To attract applicants to FSAEI HE I.M. Sechenov First Moscow State Medical University the significant factors were: preserving a good reputation of the university (64.7%), prestige (53%) and the quality of education (50.7%). The most popular competencies among students of all the faculties and courses were the following: willingness to work with modern medical equipment (45% ± 2,3%), knowledge of innovative medical technologies (31,9% ± 2,2%). Almost every second student (55% ± 2.3%) believes that the quality of education at Sechenov University corresponds to the requirements of the current labor market. Conclusion: The conclusion has been drawn on the basis of the conducted research, that the internal system of assessing the quality of education is directed to increasing prestige of Russian higher medical education, its integration into the international educational space.

© 2018 Ima-Press Publishing House. All right reserved. The response rate to therapy for rheumatoid arthritis (RA) rarely exceeds 60%. Mental disorders (MDs) of the anxiety-depressive spectrum (ADS) and cognitive impairment (CI) substantially affect the evaluation of the efficiency of RA therapy. Adequate psychopharmacotherapy is one of the possible approaches to optimizing the treatment of RA. The factors influencing the efficiency of RA therapy with standard disease-modifying antirheumatic drugs (DMARDs) and biological agents (BAs) in combination with adequate psychopharmacotherapy have not been previously identified. Objective: to determine the predictors of response to therapy in patients with RA receiving DMARDs and BAs with or without adequate psychopharmacotherapy for ADS disorders. Subjects and methods. The investigation included 128 patients (13% men and 87% women) with a reliable diagnosis of RA. At baseline, 75.1% of patients received DMARDs; 7.8% - BAs. ADS disorders were detected in 123 (96.1%) patients. Psychopharmacotherapy was offered to all the patients with MDs; 52 patients agreed to treatment and 71 refused. The following therapeutic groups were identified according to the performed therapy: 1) DMARDs (n = 39); 2) DMARDs + psychopharmacotherapy (n = 43); 3) DMARDs + BAs (n = 32); 4) DMARDs + BAs + psychopharmacotherapy (n = 9). The changes of MDs symptoms and the outcomes of RA were assessed in 83 (67.5%) patients at five-year follow-up. The efficiency of RA therapy was evaluated with DAS28 (EULAR criteria). Predictors of response to therapy were determined using linear regression modeling. Results and discussion. At 5 years, 22 (26.5%) and 37 (44.6%) patients were recorded to show good and moderate responses to therapy, respectively; 24 (28.9%) patients were non-respondents. The linear regression model included 14 factors (p<0.001). The high values of DAS28 (β=0.258) at the inclusion; belonging to therapeutic groups 2 (β=0.267), 3 (β=0.235), and 4 (β=0.210), the absence of diabetes mellitus (β=-0.230), and experience in using glucocorticoids (β=-0.230) were associated with a high likelihood of response to therapy; high body mass index (β=-0.200) and long RA duration (β=-0,181), a high level of rheumatoid factor (β=-0.176), a history of myocardial infarction (β=-0.153), schizotypic disorder (β=-0.132), and extra-articular manifestations of RA (β=-0.106), and older age (β=-0.102) were related to a low probability of response. The area under the ROC curve for the model was 0.99 (p<0.001). Conclusion. BA therapy and psychopharmacotherapy, along with younger age, shorter duration and high activity of RA, a low level of rheumatoid factor, lower body mass index, the absence of diabetes mellitus, myocardial infarction, and extra-articular manifestations of RA in the history, schizotypic disorder, and experience in using glucocorticoids are associated with a greater likelihood of a good and moderate treatment response.

© 2018 Media Sphera Publishing Group. All rights reserved. This article presents an overview of data of Russian and foreign literature on possible associations between cognitive impairment and atrial fibrillation (AF). It includes modern classification of cognitive impairment, mechanisms of the effect of AF on cognitive functions and development of dementia, recommendations for the prevention of cognitive impairment in patients with AF. Special attention is paid to the assessment of cognitive status, and safe anticoagulant therapy, which is a priority in the prevention of cognitive impairment in patients with AF. Analysis of literature showed greater efficacy and safety of drugs from the group of Non-Vitamin K Antagonist Oral Anticoagulants (NOAC), rivaroxaban in particular, in comparison with warfarin. Drugs from the NOAC group can be recommended for prevention stroke, cognitive impairment and dementia in elderly patients with AF.

© 2018 Russian Academy of Medical Sciences. All Rights Reserved. Urolithiasis is a common urological problem. In most cases, this multifactorial pathology develops due to the combination of inherited low-penetrance gene variants and environment factors such as urinary tract infections and unbalanced diet. However, some cases are monogenic. These hereditary forms of urolithiasis manifest in childhood, and are characterized by multiple, bilateral and recurrent kidney stones and progress to chronic renal failure relatively early. Due to widening acceptance of exome and gene panel sequencing, substantially larger percentages of urolithiasis cases are now attributed to hereditary causes, up to 20% among patients of 18 years old or younger. Here we review genetic and biochemical mechanisms of urolithiasis, with an emphasis on its hereditary forms, including fermentopathies (primary hyperoxaluria, adenine phosphorobosyltransferase deficiency, phosphoribosyl-pyrophosphate-synthetase deficiency, xanthinuria, Lesch-Nihan syndrome) and these caused by membrane transport alterations (Dent's disease, familial hypomagnesia with hypercalciuria and nephrocalcinosis, hypophosphatemic urolithiasis, distal tubular acidosis, cystinuria, Bartter's syndrome). We suggest a comprehensive gene panel for NGS diagnostics of the hereditary urolithiasis. It is expected that accurate and timely diagnosis of hereditary forms of urolithiasis would enable the counselling of the carriers in affected families, and ensure personalized management of the patients with these conditions.

© 2018 Dynasty Publishing House. All rights reserved. Hepatocellular carcinoma (HCC) is rarely diagnosed during pregnancy, its fibrolamellar variant (FHCC) is a specific form that is more often diagnosed in young women and is rarely associated with cirrhosis or chronic infection with hepatitis B or C viruses. Making a diagnosis at early stages is complicated by the fact that the α-fetoprotein (AFP) level is usually not enhanced, and symptoms develop only at advanced stages of disease. A clinical case of FHCC in a 27-year-old woman is presented, diagnosed at the 30th week of pregnancy after persistent dragging and spastic pains in the epigastric region. US detected a tumour with sizes 110 × 81 × 89 mm and foci in the lungs. Variants of treating such patients depending on tumour characteristics, pregnancy period and family preferences are discussed.

© 2018 Russian Presidential Academy of National Economy and Public Administration. All rights reserved. This article uses oral history interviews to examine the memory of believers from Evangelical Christian-Baptist (ECB) churches regarding the requirements for women's external appearance as a reflection of their personal piety. While discussing believers' memory of the late Soviet period, the article demonstrates that these congregations focused almost exclusively on women. The conviction that believers were not to reflect the "outside world" in appearance was actually a double standard for women, since women's fashion choices have been much more dynamic than men's in the Soviet and post-Soviet periods. The article discusses the historical and social significance of the emphasis on women's appearance, arguing that both a high view of scripture and a nostalgia for the "Soviet past" perpetuated the patriarchal norms held by both men and women in ECB congregations. The authors then utilize a series of historical photographs from the 1940s to the 1970s to demonstrate the scope of the transformation of ECB believers' memory, which did not always accurately reflect late-Soviet reality. The authors conclude that the extensive changes in the social order in general and in women's fashion in particular in the post-Soviet period strengthened believers' impulse to isolate themselves from the immoral "outside world." By following the accepted norms for their external appearance, ECB women's appearance becomes a marker of their faith and a visible sign of their piety that is so highly prized by their community.