Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492.3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492.3:c.5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic.
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This paper presents the possibilities of using the Unity engine to create the research software for cognitive neuroscience using the brain-to-brain synchrony paradigm. Neurofeedback software for neuroscience research in the brain-to-brain synchrony paradigm is represented by software that allows to implement three research protocols based on the EEG signals recording: the “eyes-to-picture” in the double glasses HTC VIVE PRO protocol, the “eyes-to-eyes”/“ face-to-face” protocol and the “eyes-to-screens” protocol. The presented brain-to-brain synchrony software solution for the implementation of different protocols is a digital platform allowing to perform hyperscanning of electrical activity of the cerebral cortex simultaneously in several persons and thus study the functions of higher neural networks of socially determined areas of the cerebral cortex.
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| 09_83-90.pdf | 1.75 MB |
There is currently a significant lack of information on genetic diversity Mycoplasma hominis, associated with urogenital tract infections in the world. Extended survey multilocus sequence typing and phylogenetic analysis of nucleotide se- quences of the genome of Mycoplasma hominis clinical isolates isolated in the Nizhny Novgorod region was conducted using NGS technology. Molecular profiling based on MLST sequence typing of housekeeping genes (ST-type) (gyrB, tuf, ftsY, uvrA, gap) and MVLST virulence genes (VT-type) (p120', vaa, lmp1, lmp3, p60) was defined with using the server https://pubmlst.org. Extended eMLST typing of Russian Mycoplasma hominis isolates was conducted for the first time. 78 new allelic variants of genes uvrA, gyrB, ftsY, tuf, gap, p120′, vaa, lmp1, lmp3, p60 Mycoplasma hominis isolates were deposited in the PubMLST database. Based on phylogenetic analysis, a high degree of genetic diversity of mycoplasma isolates has been established, the first ones are identified and deposited into the database PubMLST new previously undescribed ten sequence (ST) and ten pathotypes (VT) of Mycoplasma hominis Russian isolates.
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| 08_72-82.pdf | 1.38 MB |
Aim: the effect of cryopreservation and molecular hydrogen (Н2) on the sperm quality characteristics, metabolic, oxidative and antioxidant indices of spermatozoa. Sperm diluted with BioXcell diluent, sperm after cryopreservation and sperm after cryopreservation with Н2 were studied as comparison groups. Qualitative indices of spermatozoa, intensity of free-radical processes, activity of antioxidant enzymes and ATP concentration were measured in all groups. Lipoperoxidation was found to be reduced, and antioxidant activity was increased in sperm after cryopreservation with Н2. It was shown that the content of diene, triene conjugates, malonicdialdehyde decreased in spermatozoa and the activity of superoxidedismutase and catalase increased in sperm after cryopreservation with Н2. Reduction of oxidative processes under the action of Н2 was accompanied by an increase in the concentration of ATP in spermatozoa. After thawing, a significant preservation of spermatozoa motility was recorded under H2 action compared to the group without H2. Thus, H2 is effective in its ability to quench reactive oxygen species and thereby protect spermatozoa from the effects of oxidative stress during cryoconservation. These properties of H2 protect spermatozoa at low temperatures and determine the preservation of high functional activity of spermatozoa after thawing.
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| 07_66-71.pdf | 632.34 KB |
Helicobacter pylori (H. pylori) is a bacterium distributed worldwide and common in developing countries. In addition to its gastric manifestation, it has a potential role in the development of non-digestive tract disorders like cardiovascular diseases including dyslipidemia, diabetes, obesity, hypertension, chronic kidney disease, and liver disease. It is unclear whether diabetics are more liable for H. pylori infection or whether H. pylori infection raises the risk of diabetes. This study aims to evaluate the glycemic measures in patients having gastritis with and without H. pylori. A community-based cohort study was carried out on patients diagnosed with gastritis by gastroscopy examination. Our sample was divided into H. P-positive group (150 female & 155 male) and H. P-negative group (175 female & 68 male). Diagnosis of Helicobacter pylori infection was done by 13C urea breath test. A control group (60 female and 60 male) that had neither gastritis nor H.P infection were included in this study. Laboratory investigations were performed after a 10 h fast, including fasting blood glucose (mg/dl), fasting serum insulin (IU/ml), HbA1c and 2h postprandial plasma glucose. HOMA-IR index was used to study the relation between Helicobacter pylori and insulin resistance. Helicobacter pylori infection was significantly associated (p < 0.05) with glycemic measures in patients with gastritis. In gastritis with and without Helicobacter pylori, glycemic measures were significantly (p < 0.05) increased in females. It can be concluded that by causing insulin resistance, H. pylori contributes to diabetes and may be magnified to promote long-term diabetes.
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| 06_58-65.pdf | 837.43 KB |
Hexavalent chromium Cr (VI) causes reactive stress and inflammation in the heart; hence this study examines how oxidative stress from Cr (VI) affects the circulatory system and the inflammatory and oxidative processes that generate it. Fifty mice were split into five groups. One group was a control, while four received oral Cr (VI) (5 mg, 10 mg, 20 mg, and 50 mg) daily for 30 days. At the conclusion of the study, blood concentrations of ATP, troponin I, and CK-MB were assessed for cardiac injury. To assess oxidative stress, glutathione (GSH), superoxide dismutase (SOD), malondialdehyde (MDA), and catalase (CAT) were examined. Inflammatory biomarkers, including tumor necrosis factor-alpha (TNF-α) and interleukin-1 beta (IL-1β), were identified in a composite of cardiac tissue. Significant cardiac injury and reactive stress were evidenced by the substantial increases in CK-MB, troponin I, and MDA levels in relation to dosage. Antioxidant markers like CAT, SOD, and GSH went down a lot, which means the body's antioxidant defenses were not as strong as they used to be. Increased TNF-α and IL-1β levels, particularly with larger Cr (VI) doses, indicated an inflammatory response. Research demonstrates that Cr (VI) causes oxidative stress and inflammation in the heart, which worsens with greater doses. This study shows how important it's to find more safety drugs that can protect the heart from the damage that Cr (VI) does.
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| 05_48-57.pdf | 642.86 KB |
The Epstein-Barr virus (EBV) is an oncogenic virus that persists in a latent state within B-lymphocyte cells. This virus has been associated with numerous forms of haematologic malignancies, including leukaemia. The focus has been on the association between single nucleotide polymorphisms (SNPs), such as those in Interleukin-10, and leukaemia patients. The enzyme-linked immunosorbent assay (ELISA) was employed to identify Epstein-Barr virus EBNA-1-IgG, whereas the Sanger sequencing approach was utilised to detect Interleukin-10 SNPs. This study aimed to ascertain the presence of Epstein-Barr virus EBNA-1-IgG in patients with acute lymphocytic leukaemia and to investigate Interleukin-10 single nucleotide polymorphisms (SNPs) -819T˃C (rs1800871) and -592A˃C (rs1800872) in patients with acute lymphoblastic leukaemia. The statistical examination of the immunological assay indicated no significant difference between the proportion of patients positive for EBV EBNA-1-IgG and the positive controls. The statistical analysis reveals a substantial disparity in the proportion of CC genotype carriers at IL10 -819T˃C (rs1800871) between patients and controls within the molecular study framework. A notable difference was seen in the prevalence of TC genotype carriers at IL10 -819T˃C (rs1800871) between patients and controls. A significant difference was observed between healthy controls and patients with AC, AA, and CC genotype carriers at IL10 -592A>C (rs1800872). This study illustrates the notable prevalence of Epstein-Barr virus (EBV) in individuals with acute lymphoblastic leukaemia. This study demonstrates the association between acute lymphoblastic leukaemia and the CC and TC genotypes at IL10-819T˃C (rs1800871), along with the AC, CC, and AA genotypes at IL10 -592A˃C (rs1800872).
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| 04_38-47.pdf | 640.48 KB |
Background: acute myeloid leukemia (AML) is characterized as an aggressive blood cancer with rapid growth of immature leukemic cells. It appears that each subtype of AML displays a distinct miRNA profile. miRNAs play a role in regulating gene expression that is implicated in AML pathogenesis. This study was designed to assess the level of miRNA-155 gene expression in relation to chemotherapy resistance in various AML patient groups, with the hope of developing a novel marker for targeted therapy and early diagnosis and prognosis of cancer stem cells in AML patient. Methods: 120 AML cases were studied. Based on chemotherapy stage, 40 patients were assigned to each group (newly diagnosed, under treatment, and relapsed). Baghdad Teaching Hospital (Iraq) provided the cases and samples from February 2022 to April 2023. This study also included 40 healthy controls. The qRT-PCR method, which uses the ΔCt-value and fold change (2-ΔΔCt), was used to count the genes after they were standardized to the level of a housekeeping gene (U6). Results: in this study, significantly elevated levels of miRNA-155 were observed in AML patients compared to controls, with a higher fold change detected in the newly diagnosed group. Conclusions: upregulation of miRNA-155 is suggested to be linked to AML development and is strongly associated with the progression of leukemic stem cells. These results might serve as accurate predictors of AML and potential therapeutic targets for the elimination of LSCs.
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| 03_30-37.pdf | 790.82 KB |
Urinary bladder cancer (UBC) is the most common malignancy of urinary tract, ranking tenth worldwide. In Iraq, UBC is the seventh among 10 most prevalent cancers. This study is designed to assess the expression of CD276 in different bladder tissue specimens from Iraqi UBC patients using immunohistochemistry (IHC). A total of 70 paraffin-embedded tissue blocks of bladder cancer were collected from the archive of the Histopathology Unit of several public hospitals and private labs in Baghdad, following formal authorizations, in addition to ten biopsies of bladder tissues without significant pathology assembled from the forensic medicine department and used for comparison purposes. The results showed that the expression of CD276 was positive in 41.43% of malignant cases and negative in 100% of normal bladder tissues with significant differences of P = 0.011 between the studied groups. It can be concluded that the present investigation reported elevated expression of CD276 in Iraqi UBC patients, correlated negatively with clinical features including patients′ age, sex, tumor′s size, stage, grade, and histological type. This suggests that this marker may be considered a target molecule in diagnosis or therapy of UBC.
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| 02_20-29.pdf | 995.52 KB |
Uncontrolled cell proliferation is a hallmark of breast cancer (BC), a malignant disease that frequently results in the development of tumors. With distinct genetic profiles and clinical consequences, it has multiple molecular subtypes, such as triple-negative, HER2-positive, luminal A, and luminal B. This study investigated the relationship between the expression of the microRNAs miR-195 and miR-206 in a sample of female BC patients from Iraq and their illness features and demographic distribution. Most BC cases occur in women between the ages of 40 and 59. The study included 60 patients and 60 healthy women. There were no appreciable variations between the right and left breast placements, and the average age of BC patients was 49.27 ± 10.66. Luminal A was the most prevalent molecular subtype of invasive ductal carcinoma (IDC), which was the most prevalent kind overall. The highest rates of BC were found in stages II and III, at 40% and 36%, respectively. While there were no discernible changes between the luminal a, luminal B, and HER2 subtypes, RT-qPCR using miR-16 as an internal reference revealed that miR-195 was markedly increased in BC patients relative to controls. With no discernible variations between molecular subtypes, miR-206 was downregulated in BC patients; however, it was significantly downregulated in stages II, III, and IV in comparison to stage I. These results imply that miR-195 and miR-206 might be involved in the onset and development of BC.
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| 01_5-19.pdf | 1.75 MB |
