A new coronavirus infection caused by the SARS-CoV-2 virus, which appeared in December 2019, has claimed the lives of 2.5 million people in almost a year. The high contagiousness of this virus has led to its wide and rapid spread around the world. As of February 2021, the total number of cases is 111 million people; more than 4 million cases of SARS-CoV-2 infection have been registered in the Russian Federation. To successfully combat the emerging pandemic, it is necessary to quickly diagnose the disease at an early stage, which will prevent the further spread of this virus and prescribe the necessary treatment on time. The aim of the work was to evaluate the use of the SARS-CoV-2 nucleocapsid antigen (N-Ag) and respective antibodies as diagnostic markers in pneumonia patients. The study was conducted at the height of COVID-19 pandemic in Moscow, Russia. It included 425 emergency patients with clinical signs of COVID-19 pneumonia, of which 280 (66%) were positive for either serum N-Ag and/or its respective antibodies. We demonstrate the total prevalence of N-Ag seroconversion in SARS-CoV-2associated pneumonia patients within 3–5 days after hospital admission. The results indicate high feasibility of SARS-CoV-2 serodiagnostics in emergency patients.
VIEWS 2745
The association between levels of trace elements, endocrine diseases and reproductive impairments is actively investigated currently. In this connection, it seems relevant to study elemental status (elemental composition of blood and amounts of elements therein) of infertile patients enlisted in programs employing assisted reproductive technologies (ART). This study aimed to analyze trace elements in blood of infertile patients, relationship between the level of such trace elements and parameters of the ART programs they are in. The study included 30 infertile patients aged 18–39 years. Relying on inductively coupled plasma mass spectrometry, we identified concentrations of 31 chemical element in blood of the participants. Two elements out of 31 (antimony and beryllium) were not found in any blood sample; 10 elements (titanium, chromium, cobalt, nickel, arsenic, mercury, barium, gold, vanadium) were detected in some blood samples, the remaining 19 elements were found in all samples. Age of the patients correlated negatively with the level of silicon (r = –0.384; p = 0.036) and positively with the level of molybdenum (r = 0.384; p = 0.036). The level of anti-mullerian hormone was in a significant negative correlation with the level of lithium (r = –0.367; p = 0.046). The level of free thyroxine was in a significant negative correlation with the level of boron (r = –0.402; p = 0.028) and a positively correlated with the levels of iron (r = 0.410; p = 0.024) and silver (r = 0.432; p = 0.017). Considering the embryological cycle, we noted a positive correlation between the level of silicon and the number of blastocysts obtained (r = 0.387; p = 0.034). There was no statistical relationship registered between elemental composition of blood the frequency of pregnancy in ART cycles.
VIEWS 2904
An imbalance between the production of reactive oxygen species and their neutralization lies at the core of oxidative stress implicated in ischemic stroke (IS) and the subsequent brain tissue damage. The aim of this study was to investigate the effects of common polymorphic variants of the glutamate cysteine ligase catalytic subunit gene on the extent of brain damage and clinical manifestations in patients with ischemic stroke. A total of 589 ischemic stroke survivors were genotyped for 6 single nucleotide polymorphisms (SNPs) of the GCLC gene, including rs12524494, rs17883901, rs606548, rs636933, rs648595 and rs761142, using a MassARRAY-4 analyzer. The study found that genotypes rs636933-G/A-A/A (р = 0.009) and rs761142-A/C-C/C (р = 0.015) were associated with an enlargement of the cerebral lesion size. Genotypes rs12524494-G/G (р = 0.05) and rs606548-T/T (р = 0.003) were associated with a risk of 2 or more IS episodes. Genotype rs17883901-G/A was associated with early onset of IS (р = 0.004). The study revealed multiple associations of GCLC SNPs with the clinical manifestations of ischemic stroke. Thus, GCLC polymorphisms are important DNA markers affecting the size of the cerebral lesion in patients with ischemic stroke and are associated with age at onset, the number of past strokes and the clinical manifestations of the disease.
VIEWS 2324
"Standard" diagnostic panels allow identification of only a few of BRCA1 and BRCA2 gene mutations most common in a population. Therefore, tests relying on such panels may return false negative results, since the coding regions of these genes may have other defects. For breast cancer (BC) patients, false negative test results may translate into selection of inadequate therapy by their doctors. This study aimed to identify the features of BRCA-associated breast cancer in the population of the Russian Federation. The study included breast cancer patients (n = 4440). At the first stage, all patients were screened for the eight most common BRCA1 and BRCA2 genes mutations with the help of real-time PCR. Next, patients that exhibited clinical signs of a hereditary disease (CSHD) in the absence of common mutations (n = 290) had the entire coding regions of BRCA1 and BRCA2 genes studied with next generation sequencing (NGS). "Standard" mutations in the BRCA1 and BRCA2 genes were identified in 169 (3.8%) cases. In the CSHD group, such mutations were revealed in 15.4% of cases. NGS uncovered 33 rare pathogenic BRCA1 and BRCA2 gene mutations in 40 out of 290 breast cancer patients (13.8%). It was concluded that among the residents of the Russian Federation, the range of pathogenic variants of BRCA-associated breast cancer is wide, and it stretches beyond the mutations considered by the "standard" diagnostic panels. Analysis of the entire coding regions of BRCA1 and BRCA2 genes allows increasing efficiency of detection of germline mutations in breast cancer patients at least twofold.
VIEWS 2319
The search for and the application of available noninvasive methods for early diagnosis of oral mucosa (OM) neoplasia is a clinically significant problem. The aim of this study was to evaluate the effectiveness of the original score-based algorithm for assessing clinical data generated by a conventional and an autofluorescencebased examination in diagnosing OM cancer and assessing indications for a biopsy. We analyzed 134 medical histories and pathology reports of patients with oral neoplasia. The patients were assigned to 2 groups: the control group included 63 patients who underwent a standard visual and tactile examination with history taking and then were referred for an incisional biopsy followed by a histopathological examination of the specimens. In the main group consisting of 71 patients, a standard visual and tactile examination was complemented by an autofluorescence-based examination and the original score-based algorithm with the original index of required histopathological verification (RHV) were used to assess indications for a biopsy. In both groups, the most commonly affected site was the tongue (72.4%). The histopathological examination revealed that 28 patients from the main group and 14 patients from the control group had OM cancer (р = 0.051). Histologically, early-stage cancer was diagnosed in 17 patients from the main group and in 4 patients from the control group (р = 0.004). The proposed algorithm allowed us to effectively (in 90% of cases) diagnose precancer and cancer and avoid unnecessary biopsies.
VIEWS 2263
Efferent physical therapy holds promise as an adjunct to the combination treatment of femoral fractures in young, working-age individuals. The aim of the study was to investigate the dynamics of bone turnover markers at different stages of femoral fracture consolidation in patients undergoing ozone therapy. The study enrolled 20 men (group 2, 47.8 ± 3.5 years) with a femoral shaft fracture (AO/ASIF 32А, 32В). The control group (group 1, 46.8 ± 3.7 years) comprised 10 healthy males. Subgroup 2a (n = 10) was assigned to receive standard therapy; subgroup 2b (n = 10) was assigned to receive standard therapy complemented by minor autohemotherapy (MAHT) at 20 mg/L ozone concentrations. On days 7, 30 and 90, fracture consolidation was assessed on the RUST scale and blood levels of С-terminal telopeptides of type I collagen (bCTx, pg/ml) and procollagen type I carboxy-terminal propeptide (PICP, ng/ml) were measured. On day 7, the total RUST score in subgroups 2a and 2b was 4 points; on day 30, it was 6.5 and 8.7 points, respectively, and on day 90, it reached 10 and 11.5 points, respectively. Bone mineral density was as high as 90% in the MAHT subgroup vs. 78% in subgroup 2а, indicating faster bone healing. On day 30, bCTx levels in subgroup 2b were higher than in subgroup 2a (2289.4 [2145.3; 2365.4] vs. 1894.6 [1745.3; 2098.2], respectively. On day 7, PICP was significantly elevated in subgroup 2b in comparison with subgroup 2a; its levels peaked on days 30 and 90 (day 30: 268.3 [231.2; 286.3] vs. 183.2 [174.6; 195.6]; day 90: 584.6 [512.3; 589.3] vs. 351.2 [312.3; 369.4]. Thus, MAHT produces a positive effect on the quality and intensity of bone healing in men with isolated closed femoral shaft fractures.
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