Bulletin of RSMU

ISSN Print 2500–1094 ISSN Online 2542–1204

Bulletin of RSMU

BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)

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Shchagina OA, Semenova NA, Bessonova LA, Larshina EA, Beskorovainiy NS, Zakharova EYu, Ryzhkova OP, Poliakov AV

Microcephaly-capillary malformation syndrome (MICCAP: OMIM 614261) is a severe monogenic disorder inherited in an autosomal recessive manner caused by mutations in the STAMBP gene. There are less than 20 published cases of the syndrome to date. The paper reports three new cases of rare MICCAP syndrome. The cause of the disorder was confirmed in three affected individuals from two unrelated families by pedigree analysis, biochemical analysis, RFLP analysis and automated Sanger sequencing. The two brothers were homozygous for the potentially pathogenic STAMBP gene variant c.188A>G (p.Tyr63Cys). Clinical phenotype of the girl from the second family resulted from the combination of two genetic disorders: galactosemia caused by the compound heterozygosity for the pathogenic GALT gene variants (c.563A>G and c.855G>T), and MICCAP caused by the STAMBP gene variants (c.204-5C>G and с.668_669delCA), one of which originated de novo. The prevalence of microcephaly-capillary malformation syndrome in Russia is evaluated, it is one per 120,000 people (CI: 1/356 724–1/62 691). The carrier frequency is one per 173 people. The target STAMBP gene analysis makes the genetic confirmation of the MICCAP syndrome quicklier. When determining the tactics of diagnosis and therapy in each particular case, the possibility of combination of two rare genetic disorders in one patient should be considered.

Received: 2020-05-18

Published online: 2020-06-19

DOI: 10.24075/brsmu.2020.033

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VIEWS 3070

Shamina OV, Kryzhanovskaya OA, Lazareva AV, Alyabieva NM, Mayanskiy NA

The increasing use of colistin in the clinic has led to the emergence and spread of colistin resistance. According to the literature, antibiotic resistance can have a metabolic cost, resulting in poor adaptation and survival, i.e. reduced bacterial fitness. The aim of this study was to investigate molecular mechanisms underlying resistance to colistin and their effect on the bacterial fitness of carbapenem-resistant (carba-R) strains of K. pneumoniae isolated from the patients of Moscow hospitals in 2012–2017. Of 159 analyzed carba-R isolates, 71 (45%) were resistant to colistin (minimum inhibitory concentration over 2 mg/L). By conducting Sanger sequencing, we were able to identify the mechanisms underlying colistin resistance in 26 (37%) isolates. Growth curves were constructed by measuring optical density at 600 nm wavelength for 15 hours. The competitive growth of colistin-resistant (col-R) K. pneumoniae isolates was assessed relative to the colistin-susceptible (col-S) isolate. Col-R and col-S cultures harvested in the exponential phase were combined at the ratio of 1:1, incubated in the Luria-Bertani medium and plated onto Luria-Bertani agar plates with 10 mg/L colistin and without it. The competition index was calculated as the ratio of grown col-R and col-S colonies. Resistance to colistin did not affect the growth kinetics of K. pneumoniae, but did reduce the competitive ability of the bacteria as compared to the col-S isolates. However, some col-R isolates were more competitive than the col-S strains of the same sequence type. Further research is needed to elucidate the effects of colistin resistance on bacterial fitness.

Received: 2020-05-18

Published online: 2020-06-12

DOI: 10.24075/brsmu.2020.032

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VIEWS 3005

Belykh NA, Akhkyamova MA, Gusev VV, Lvova OA

Dopa-responsive dystonia (DRD) is a rare progressive genetically heterogenous disorder with pediatric onset. DRD is 3 times as prevalent in women than in men. This article reports a clinical case of DRD in a young female presenting with paraparesis, foot dystonia (more pronounced in the right foot) and pronounced walking impairment, who was admitted for emergency treatment to a Neurology Unit. Based on the additional tests, which included a levodopa trial and Sanger sequencing, the patient was diagnosed with DRD. Levodopa caused a considerable improvement of the symptoms. The article describes the clinical features of the disease, talks about its differential diagnosis, genetic predisposition and treatment strategy.

Received: 2020-05-14

Published online: 2020-06-05

DOI: 10.24075/brsmu.2020.031

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VIEWS 2854

Sorokin MYu, Kasyanov ED, Rukavishnikov GV, Makarevich OV, Neznanov NG, Lutova NB, Mazo GE

The COVID-19 pandemic imposed not only serious threats to the physical health of the population, but also provoked a wide range of psychological problems. The study was aimed to define the structure of anxiety in the population during the epidemic period, as well as to identify the most vulnerable social groups (including individuals with affective disorders) which were most in need of psychological and/or psychiatric help. The online survey of 1957 Russian-speaking respondents aged over 18 was carried out from March 30 to April 5, 2020. The anxiety distress level was verified using the Psychological Stress Measure (PSM-25), the stigmatization of individuals experiencing respiratory symptoms was assessed using the modified Perceived Devaluation-Discrimination Questionnaire (PDD; Cronbach's α = 0.707). In 99.8% of respondents, the combination of various concerns associated with COVID-19 was observed, the mean psychological stress score was increased to moderate level (score 104.9 ± 34.4), and the stigmatization score exceeded the whole sample median value (19.5±3.4; Me = 17). About 35% of respondents had concerns associated with anxiety distress (Cohen’s d = 0.16–0.39): these were the "risk of social isolation" and the "possible lack of medication for daily use". The following groups of respondents were the most susceptible to the stress: people with affective disorders, young people (aged ≤20), unemployed persons, single persons, people with no formal education, and women. Thus, the broad sectors of the population need correction of anxiety distress associated with the COVID-19 pandemic. Therefore, the measures’ implementation should be targeted, and in terms of coverage and content oriented to the identified vulnerable social groups.

Received: 2020-05-06

Published online: 2020-06-03

DOI: 10.24075/brsmu.2020.030

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VIEWS 5580

Kuptsov NS, Kornienko MA, Gorodnichev RB, Danilov DI, Malakhova MV, Parfenova TV, Makarenko GI, Shitikov EA, Ilina EN

The ever-rising prevalence of multidrug-resistant bacteria necessitates the search for a therapeutic alternative to antibiotics. Using therapeutic products based on virulent bacteriophages might provide such an alternative. The aim of our study was to evaluate the efficacy of commercial phage products and natural bacteriophage monoisolates recovered from environmental sources against clinical strains of Enterococcus faecium, Staphylococcus aureus, Klebsiella pneumoniae, and Pseudomonas aeruginosa. We compiled a collection of 147 strains that were subsequently genotypes using the MLST method. The efficacy of bacteriophages was evaluated in spot tests. The highest efficacy was demonstrated by "Staphylococcal bacteriophage" (86%, effective against S. aureus), "Purified polyvalent pyobacteriophage" (87.8%, effective against K. pneumoniae), and a group of phage products against P. aeruginosa, including "Pseudomonas aeruginosa bacteriophage" (87.5%), "Complex pyobacteriophage" (79.5–90%) and "Purified polyvalent pyobacteriophage" (90–92.5%). The efficacy of "Intesti bacteriophage", which targets E. faecium, was 4.2%. The efficacy of commercial phage products against S. aureus and K. pneumoniae was higher than the efficacy of individual phage monoisolates (60% for the S. aureus phage vB_SauP-436-3w and 5.9% for the K. pneumoniae phage vB_Kp_M_ Seu621). Thus, all tested commercial phage products were highly effective against P. aeruginosa, K. pneumoniae and S. aureus. There are no commercial phage products on the market against other ESKAPE pathogens, including Acinetobacter baumannii and Enterobacter cloacae. Besides, there are no effective phage products against E. faecium. This dictates the need for new effective bacteriophages against these species.

Received: 2020-05-06

Published online: 2020-05-26

DOI: 10.24075/brsmu.2020.029

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VIEWS 3776

Abdullaeva AI, Prityko AG, Voronin PA, Mikhailova EG

Chronic apical periodontitis (CAP) is characterized by tissue inflammation around the tooth tip. Unstable outcomes of current treatments against CAP dictate the need for novel therapeutic techniques and medications. The aim of this study was to analyzed the effects of hirudotherapy on the treatment course in patients with CAP. Forty-one study participants aged 25 to 40 years were divided into the main group (20 patients) and the control group (21 patients). Pain level and the gingival index (GI) were measured in all study participants. During the first visit, pain scores did not differ significantly between the control (5.81 ± 0.65) and the main (5.75 ± 0.92) groups. During the second visit, pain was almost unnoticeable in the main group patients (1.05 ± 0.34), whereas pain scores were higher in the control group (4.10 ± 0.7). Our findings suggest a positive effect of hirudotherapy used in combination with standard treatment regimens.

Received: 2020-05-01

Published online: 2020-05-18

DOI: 10.24075/brsmu.2020.028

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VIEWS 2845

Osikov MV, Davydova EV, Boyko MS, Bakeeva AE, Kaygorodtseva NV, Galeeva IR, Fedosov AA, Ilyinyh MA, Vorgova LV

Research into the accumulation patterns of protein oxidative modification (POM) products and lipids in Crohn’s disease (CD) and ulcerative colitis (UC) could have important implications for understanding the pathogenesis and improving the diagnosis and therapy for these diseases. The aim of this study was to investigate the aspects of free radical oxidation (FRO) in the large bowel and their possible correlations with clinical symptoms of UC and CD. In the Wistar rat model used in the experiment, CD was induced with 2,4,6-trinitrobenzenesulfonic acid, and UC was induced with oxazolone. Clinical status was assessed using the Disease activity index (DAI). Lipid peroxidation (LPO) products were measured in the heptane and isopropanol phases of the intestinal mucosa extract. POM products were measured following spontaneous and stimulated oxidation. The DAI ( Me (Q25–Q75)) was increased in both CD and UC on days 3 and 7 of the experiment: for CD, it was equally increased on days 3 and 7 (7 (3-7)) and was 11 (11–11) and 11 (9–11) for UC on days 3 and 7, respectively. The amount of primary, secondary and end LPO products in the heptane and isopropanol phases, as well as the total amount of POM products, was increased in the homogenized mucosa of the large bowel. In the CD group, the relative content of secondary basic POM products was increased on day 7 of the experiment. The following patterns of FRO were revealed: accumulation of LPO products in the UC group and accumulation of POM products in the CD group; UC is characterized by the accumulation of mostly LPO products in the heptane phase and secondary LPO products in the isopropanol phase; CD is characterized by the accumulation of secondary basic POM products. DAI scores were correlated with the amount of LPO products in the isopropanol phase and the amount of POM products in the spontaneous oxidation mode. The highest number of strong correlations was observed in the UC group. Our findings suggest a very serious contribution of FRO changes to the pathogenesis of UC and CD, meaning that LPO and POM products could be regarded as diagnostic markers and indicators of treatment efficacy.

Received: 2020-04-18

Published online: 2020-05-08

DOI: 10.24075/brsmu.2020.027

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VIEWS 3447

Kuznetsova NA, Pochtovyy AA, Nikiforova MA, Gushchin VA

High population density in the cities with bustling transportation systems and a thriving tourism industry can promote the global spread of a viral infection in a matter of days. The novel SARS-CoV-2 coronavirus has already infected over 2,000,000 people worldwide and caused upwards of 156,000 deaths. One of the factors driving the rapid unfolding of the pandemic is the absence of diagnostic tests for SARS-CoV-2 detection. Molecular techniques allow SARS-CoV-2 RNA to be quickly detected in clinical samples, aiding the differential diagnosis in severely ill patients and facilitating identification of asymptomatic carriers or presymptomatic individuals. Real-time PCR with fluorescent hybridization is the most available, highly sensitive and specific technique for SARS-CoV-2 RNA detection in biological samples. More RT-PCR assay kits are needed for mass screening, which will help to identify infected individuals and contain the current outbreak of COVID-19 in Russia.

Received: 2020-04-21

Published online: 2020-04-30

DOI: 10.24075/brsmu.2020.026

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VIEWS 3409