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1.
Инвентарный номер: нет.
   

   
    In silico analysis revealed five novel high-risk single-nucleotide polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE gene causing autosomal dominant severe congenital neutropenia 1 and cyclic hematopoiesis [Text] / K. Shinwari, M. A. Bolkov, M. A. Akbar [et al.] // The Scientific World Journal. - 2022. - Ст. 3356835 (16 pp.)
Рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ

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2.
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   I-34

   
    Identification of the immune subtype among muscle-invasive bladder cancer patients by multiple datasets / K. Shinwari, Z. Chen, Z. Liu Guojun [et al.] // Acta Medica Indonesiana. - 2022. - Vol. 54, № 1. - P62-71
ББК 61
Рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Кл.слова (ненормированные):
MOLECULAR SUBTYPE -- IMMUNOTHERAPY -- MIBC
Аннотация: Background: Immunotherapies including PD-1/PD-L1 antibodies have been approved for the treatment of Muscle-invasive Bladder Cancer (MIBC) patients. However, immunotherapies could only be beneficial for about 20% MIBC patients. Thus, identification of the immune subtype is becoming increasingly important. This study aimed to explore the immune subtype by analyzing the gene expression profiles. Methods: A total of 6 datasets including (GSE13507, GSE31684, GSE32548, GSE32894, GSE69795, and TCGA-BLCA) were downloaded. The gene expression profiles from different datasets were combined since the batch effects were removed. We performed unsupervised clustering analysis to identify the immune subtype by the combined gene expression profiles. The tumor-infiltration levels of 22 immune cells, immune scores, and tumor purity were calculated, and the survival analysis was performed to investigate the prognosis difference between immune subtypes. The enriched pathways for each immune subtype were obtained. Results: We identified four novel immune subtypes (referred to S1, S2, S3, and S4) among MIBC patients. We found that S1 was enriched in immune scores had the best prognosis. In contrast, S3 was poor in immune scores and had the worst prognosis. Subtype S1, S2, S3, and S4 were enriched in immune-related pathways, extracellular matrix-related pathways, metabolism-related pathways, and cancer-related pathways, respectively. Conclusion: The current study suggests that the immune subtypes based on gene expression profiles could contribute to select the appropriate MIBC patient for immunotherapies.

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3.
Инвентарный номер: нет.
   

   
    Checking gene expression profile associated with IRF7 and UNC93B deficient patient peripheral blood mononuclear cells infected with pH1N1 influenza virus / K. Shinwari, G. Liu, M. A. Bolkov [et al.] // AIP Conference Proceedings. - 2022. - Vol. 2390, № 1. - Ст. 030089
Рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Кл.слова (ненормированные):
VIRUSES -- MICROARRAYS -- GENOMICS
Аннотация: An innate immune defect is a defect in the innate immune response that reduces the response to infection, this can occurs in genes important for activation regulation and proliferation of the innate immune cells or pathways important for the function of innate immunity. The purpose of this study was to identify novel biomarkers of interferon Receptor 7 through bioinformatics analysis and elucidate the possible molecular mechanism. The GSE 66486 datasets containing microarray data from IRF7 and UNC93B patients and healthy controls were downloaded from the GEO database and analyzed by the GEO2R web tool to obtain different expressed genes (DEGs). Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, protein-protein interaction (PPI), and Biological Networks Gene Oncology tool (BiNGO) were then performed to elucidate the molecular mechanism of IRF7. A total of 490 DEGs were identified, of which 14 were hub genes, and involved in ribosome biogenesis, rRNA processing, gene expression, mRNA processing, nuclear lumen, intracellular non-membrane-bounded organelle, nucleoplasm, small-subunit processome, antigen processing and presentation pathway, and ribosome biogenesis in eukaryotes. Antigen processing and presentation pathway, and ribosome biogenesis in eukaryotes possibly form the basis of IRF7 or UNC93B disorders, while our study provides a list of genes and pathways that are disrupted in IRF7/UNC93B, which has the potential to be used in the clinic for diagnosis and targeted therapy of such disorders in future.

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4.
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    Gene expression and pathway analysis in patients with inborn error of TLRs and IL-IRs signaling using microarray data / K. Shinwari, G. Liu, M. Bolkov [et al.] // AIP Conference Proceedings. - 2022. - Vol. 2390, № 1. - P030088
Рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ

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5.
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    Urinalysis, but not blood biochemistry, detects the early renal impairment in patients with COVID-19 / H. Zhou, Z. Zhang, M. Dobrinina [et al.] // Diagnostics. - 2022. - Vol. 12, № 3. - Ст. 602 (13 pp.)
Кл.слова (ненормированные):
COVID 19 -- КОРОНАВИРУС -- URINALYSIS
Аннотация: Coronavirus 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus (SARS-CoV-2), has created a tremendous economic and medical burden. The prevalence and prognostic value of SARS-CoV-2-induced kidney impairment remain controversial. The current study aimed to provide additional evidence on the incidence of acute kidney injury (AKI) in COVID-19 patients and propose the use of urinalysis as a tool for screening kidney impairment. Methods: 178 patients with confirmed COVID-19 were enrolled in this retrospective cohort study. The laboratory examinations included routine blood tests, blood biochemical analyses (liver function, renal function, lipids, and glucose), blood coagulation index, lymphocyte subset and cytokine analysis, urine routine test, C-reactive protein, erythrocyte sedimentation, and serum ferritin. Results: No patient exhibited a rise in serum creatinine or Cystatin C and occurrence of AKI, and only 2.8% of patients were recorded with an elevated level of blood urea nitrogen among all cases. On the contrary, 54.2% of patients who underwent routine urine testing presented with an abnormal urinalysis as featured by proteinuria, hematuria, and leucocyturia. Conclusions: Kidney impairment is prevalent among COVID-19 patients, with an abnormal urinalysis as a clinical manifestation, implying that a routine urine test is a stronger indication of prospective kidney complication than a blood biochemistry test.

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6.
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    Novel disease-associated missense single-nucleotide polymorphisms variants predication by algorithms tools and molecular dynamics simulation of human TCIRG1 gene causing congenital neutropenia and osteopetrosis / K. Shinwari, H. Rehman, H. Liu Guojun [et al.] // Frontiers in Molecular Biosciences. - 2022. - Vol. 9. - Ст. 879875
Рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Аннотация: T Cell Immune Regulator 1, ATPase H + Transporting V0 Subunit A3 (TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H + -ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) across membranes. Single amino acid changes in highly conserved areas of the TCIRG1 protein have been linked to autosomal recessive osteopetrosis and severe congenital neutropenia. We used multiple computational approaches to classify disease-prone single nucleotide polymorphisms (SNPs) in TCIRG1. We used molecular dynamics analysis to identify the deleterious nsSNPs, build mutant protein structures, and assess the impact of mutation. Our results show that fifteen nsSNPs (rs199902030, rs200149541, rs372499913, rs267605221, rs374941368, rs375717418, rs80008675, rs149792489, rs116675104, rs121908250, rs121908251, rs121908251, rs149792489 and rs116675104) variants are likely to be highly deleterious mutations as by incorporating them into wild protein they destabilize the wild protein structure and function. They are also located in the V-ATPase I domain, which may destabilize the structure and impair TCIRG1 protein activation, as well as reduce its ATPase effectiveness. These mutants have not yet been identified in patients suffering from CN and osteopetrosis while (G405R, R444L, and D517N) reported in our study are already associated with osteopetrosis. Mutation V52L reported in our study was identified in a patient suspected for CN. Finally, these mutants can help to further understand the broad pool of illness susceptibilities associated with TCIRG1 catalytic kinase domain activation and aid in the development of an effective treatment for associated diseases.

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7.
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    Defining muscle-invasive bladder cancer immunotypes by introducing tumor mutation burden, CD8+ T cells, and molecular subtypes / Zihao Chen, Guojun Liu, Guoqing Liu [et al.]. - https://doi.org/10.1186/s41065-020-00165-7 // Hereditas. - 2021. - Vol. 158, № 1. - 12 p
Кл.слова (ненормированные):
CD8+ T CELLS -- MOLECULAR SUBTYPE -- IMMUNOTHERAPY
Аннотация: Immunotherapy, especially anti-PD-1, is becoming a pillar of modern muscle-invasive bladder cancer (MIBC) treatment. However, the objective response rates (ORR) are relatively low due to the lack of precise biomarkers to select patients. Herein, the molecular subtype, tumor mutation burden (TMB), and CD8+ T cells were calculated by the gene expression and mutation profiles of MIBC patients. MIBC immunotypes were constructed using clustering analysis based on tumor mutation burden, CD8+ T cells, and molecular subtypes. Mutated genes, enriched functional KEGG pathways and GO terms, and co-expressed network-specific hub genes have been identified. We demonstrated that ORR of immunotype A patients identified by molecular subtype, CD8+ T cells, and TMB is about 36% predictable. PIK3CA, RB1, FGFR3, KMT2C, MACF1, RYR2, and EP300 are differentially mutated among three immunotypes. Pathways such as ECM-receptor interaction, PI3K-Akt signaling pathway, and TGF-beta signaling pathway are top-ranked in enrichment analysis. Low expression of ACTA2 was associated with the MIBC survival benefit. The current study constructs a model that could identify suitable MIBC patients for immunotherapy, and it is an important step forward to the personalized treatment of bladder cancers.

\\\\Expert2\\NBO\\Электрон. библиотека (Отеч.периодика)\\Черешнев В. А\\Hereditas. - 2021. - Vol. 158, № 1.pdf
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8.
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    Predicting the most deleterious missense nonsynonymous single-nucleotide polymorphisms of Hennekam syndrome-causing CCBE1 gene, in silico analysis / K. Shinwari, L. Guojun, S. S. Deryabina [et al.] // The Scientific World Journal. - 2021. - Ст. 6642626. - 19 p
Рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ

https://doi.org/10.1155/2021/6642626
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9.
Инвентарный номер: нет.
   

   
    Graph theory for modelling and analysis of the human lymphatic system / R. Savinkov, D. Grebennikov, D. Puchkova [et al.] // Mathematics. - 2020. - Vol. 8. - Ст. 2236. - 18 p.
Рубрики: ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Кл.слова (ненормированные):
ИММУНОЛОГИЯ -- СИСТЕМА ЛИМФАТИЧЕСКАЯ -- МОДЕЛИРОВАНИЕ МАТЕМАТИЧЕСКОЕ
Аннотация: The human lymphatic system (HLS) is a complex network of lymphatic organs linked

\\\\Expert2\\NBO\\Электрон. библиотека (Отеч.периодика)\\Черешнев В. А\\Mathematics 2020, 8, 2236.pdf
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10.
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   C 51

    Chereshnev, V. A.
    Variable polyrhythmicity of processes in nature and society / V. A. Chereshnev, S. I. Stepanova, A. G. Gamburtsev // Herald of the Russian Academy of Sciences. - 2017. - Vol. 87, № 2. - P172-180. - Bibliogr. : p. 180 (15 ref.)
ББК 50 + 61
Рубрики: ЕСТЕСТВЕННЫЕ НАУКИ--НАУКА ОБ ОКРУЖАЮЩЕЙ СРЕДЕ--ЭКОЛОГИЯ В ЦЕЛОМ--КОНФЕРЕНЦИИ
   ЗДРАВООХРАНЕНИЕ. МЕДИЦИНСКИЕ НАУКИ
Кл.слова (ненормированные):
VARIABLE POLYRHYTHMICITY -- RHYTHMS IN NATURE AND SOCIETY -- TIME-SPECTRAL ANALYSIS
Аннотация: The authors discuss possible causes of the variable polyrhythmicity of processes in nature and society, particularly in geophysics. It may be caused by desynchronization or resynchronization of processes that manifest themselves as a result of a shock impact on the geological environment, for example, in the form of an earthquake. Medical parameters are considered for which de- and resynchronization of rhythmic processes in the human organism are known, as well as geophysical processes, including underground noise of tidal origin and the seismicity of the Moon.

\\\\expert2\\NBO\\Herald of the Russian Academy of Sciences\\2017. V. 87, N 2. P. 172-180.pdf
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