ABSTRACT
The risk of essential arterial hypertension was assessed in carriers of the NOS2 gene variants (rs1800482 (-954G>C), rs3730017 (C>T)). In subjects carrying C allele (rs1800482), the risk for essential arterial hypertension developing was higher by 1.7 times (OR=1.712, 95%CI 1.07-2.74), while the presence of T-allele (rs3730017) had a protective effect (OR=0.304, 95%CI 0.192-0.482). In patients with essential arterial hypertension, the presence of the C allele (rs1800482) was associated with a higher content of NO metabolites in the blood plasma. A positive correlation was found between the plasma content of nitrites and nitrates and the level of transcripts of VCAM1, ICAM1 genes in peripheral blood leukocytes. We found the influence of the C allele carriership on the expression VCAM1 and ICAM1 genes in patients with essential hypertension. It was hypothesized that this polymorphic site in the NOS2 gene can be involved in the development of endothelial dysfunction and essential arterial hypertension through modulation of NO level under condition of inflammation.
Subject(s)
Essential Hypertension/genetics , Genetic Predisposition to Disease/genetics , Nitric Oxide Synthase Type II/genetics , Polymorphism, Single Nucleotide , Adult , Alleles , Female , Genotype , Haplotypes/genetics , Humans , Male , Middle AgedABSTRACT
Biodiversity of sulfate-reducing bacterial communities in the water column of the Gdansk Deep, Baltic Sea, where H2S had been detected in near-bottom layers, was analyzed by PCR with primers for the 16S rRNA genes of six major phylogenetic subgroups of sulfate-reducing bacteria (SRB). Using denaturing gradient gel electrophoresis followed by sequencing, the nucleotide sequences of reamplified dsrB gene fragments from investigated water samples were determined. For the first time the presence of nucleotide sequences of the dsrB gene was detected by PCR in the water samples from all hydrochemical layers, including subsurface oxic waters. The presence of the 16S rRNA genes of representatives of Desulfotomaculum, Desulfococcus-Desulfonema-Desulfosarcina, and Desulfovibrio-Desulfomicrobium SRB subgroups was also revealed throughout the water column of the Gdansk Deep. Analysis of translated amino acid sequences encoded by the dsrB gene demonstrated the highest homology with the relevant sequences of uncultured SRB from various marine habitats.
Subject(s)
Deltaproteobacteria/classification , Desulfotomaculum/classification , Desulfovibrio/classification , Genes, Bacterial , Sulfur-Reducing Bacteria/classification , Water Microbiology , Atlantic Ocean , Colony Count, Microbial , Deltaproteobacteria/genetics , Deltaproteobacteria/metabolism , Desulfotomaculum/genetics , Desulfotomaculum/metabolism , Desulfovibrio/genetics , Desulfovibrio/metabolism , Genes, rRNA , Hydrogen Sulfide/metabolism , Microbial Consortia/genetics , Oxidation-Reduction , Phylogeny , Polymerase Chain Reaction , RNA, Ribosomal, 16S/genetics , Sulfur-Reducing Bacteria/genetics , Sulfur-Reducing Bacteria/metabolismABSTRACT
Whole Exome Sequencing (WES) is a promising method in human genetics. Because the majority of pathogenic mutations that lead to the development of diseases are localized in exons and splice sites, WES could become a major tool for the diagnosis of diseases with a complex hereditary nature. This tool appears to be particularly useful for hereditary neurological diseases, such as autism spectrum disorders, Charcot-Marie-Tooth disease and others. In our review, we discuss the clinical application of WES, with special emphasis on the diagnosis of hereditary neurological diseases.
Subject(s)
Charcot-Marie-Tooth Disease/diagnosis , Child Development Disorders, Pervasive/diagnosis , Exome/genetics , Genetic Predisposition to Disease , Sequence Analysis, DNA/methods , Charcot-Marie-Tooth Disease/genetics , Child Development Disorders, Pervasive/genetics , Humans , MutationABSTRACT
The rates of sulfate reduction (SR) and the diversity of sulfate-reducing bacteria (SRB) were studied in the sediments of the Posol'skaya banka elevation in the southern part of Lake Baikal. SR rates varied from 1.2 to 1641 nmol/(dm3 day), with high rates (> 600 nmol/(dm3 day)) observed at both deep-water stations and in subsurface silts. Integral SR rates calculated for the uppermost 50 cm of the sediments were higher for gas-saturated and gas hydrate-bearing sediments than in those with low methane content. Enrichment SRB cultures were obtained in Widdel medium for freshwater SRB. Analysis of the 16S rRNA gene fragments from clone libraries obtained from the enrichments revealed the presence of SRB belonged to Desulfosporosinus genus, with D. lacus as the most closely related member (capable of sulfate, sulfite, and thiosulfate reduction), as well as members of the order Clostridiales.
Subject(s)
Geologic Sediments/microbiology , Lakes/microbiology , Microbial Consortia/physiology , Sulfur-Reducing Bacteria/isolation & purification , DNA, Bacterial/genetics , Molecular Sequence Data , Phylogeny , RNA, Ribosomal, 16S , Siberia , Sulfur-Reducing Bacteria/genetics , Water MicrobiologySubject(s)
Hydrogen Sulfide/metabolism , Manganese/metabolism , Oxygen/metabolism , RNA, Ribosomal, 16S/genetics , Sulfur-Reducing Bacteria/isolation & purification , Aerobiosis/physiology , Black Sea , Cold Temperature , Kinetics , Phylogeny , Sulfur-Reducing Bacteria/genetics , Sulfur-Reducing Bacteria/metabolismABSTRACT
29 patients aged 6-16 with glomerulonephritis lasting 4-5 years received multimodality treatment with plasmapheresis as a component. The majority of the patients suffered from primary glomerulonephritis in mesangio- or membrano-proliferative morphological variants. Previous long-term conventional therapy (prednisolone, cytostatics, anticoagulants and antiaggregation drugs) failed. The test course comprised 1-3 plasmapheresis sessions (centrifuge method on [symbol: see text] apparatus), cyclophosphamide or maintenance methyl-prednisolone pulse therapy, heparin and curantil. One-third of the patients achieved remission lasting from 5 months to 3 years, in the other one-third the improvement was as short as 2-4 weeks, and the last one-third appeared non-responders. Improvement of clinical indices occurred in parallel with trends to reduction in the levels of CIC, IgG, B-lymphocytes, T-helpers, inhibition of lymphocyte succinate dehydrogenase activity, better phagocytosis. No complications which may prohibit plasmapheresis use in glomerulonephritis were observed. Adjuvant plasmapheresis use in glomerulonephritis treatment needs further studies.
Subject(s)
Glomerulonephritis/therapy , Plasmapheresis , Adolescent , Antibody Formation , Child , Chronic Disease , Combined Modality Therapy , Drug Therapy, Combination , Evaluation Studies as Topic , Glomerulonephritis/immunology , Humans , Immunity, Cellular , Plasmapheresis/instrumentation , Remission Induction , Time FactorsABSTRACT
The purpose of the study was to analyze the character of the expression of the blood lymphocyte epitopes SD4, SD8 (EBLE SD4, SD8) in a series of the loading in-vitro tests in children suffering from the nephrotic syndrome, with different HLA haplotypes. Nine children with the hormone-sensitive nephrotic syndrome (HSNS) and hormone-resistant nephrotic syndrome (HRNS) and 11 parents were examined. Before and after the in-vitro loading with medicamentous agents EBLE SD4, SD8 were determined by flow cytofluorometry, while HLA antigens were tested by the standard micro-lymphocytotoxic method. The studies allowed revealing differences in the responses of EBLE SD8 to the in-vitro loading in children with the HRNS and HSNS. The character of EBLE SD4, SD8 in a child with the NS and its parents may attest to the involvement of those antigens in the pathogenetic component of the given disease.