Drug acetylation plays an important role in the medical practice. Modern methods of acetylation phenotype prediction are based on genotyping of polymorphisms in the second exon of the gene
NAT2
. ...Some disadvantages of these methods limit their application in the clinical practice. We developed a method of human genotyping based on identification of
NAT2
gene polymorphism
rs1495741
by real-time PCR. This method of genotype determination has a number of advantages: high sensitivity, simplicity, possibility of automated interpretation of the results, and feasibility in clinical laboratories.
The measurement of the level of mitochondrial DNA (mtDNA) in the blood is a difficult problem due to high variability of mitochondrial genes, deletions in the mitochondrial genome in some ...pathological conditions, different sources of mtDNA into the bloodstream (mtDNA from tissues, from blood cells,
etc
.). We designed primers and TaqMan probes for highly conserved regions of the
ND1
and
ND2
genes outside the mitochondrial deletions “hot zones”. For standardizing the technique, the true concentration of low-molecular-weight mtDNA was determined by real-time PCR for two targets: a fragment of the
ND2
gene (122 bp) and the
ND1
and
ND2
genes (1198 bp). The sensitivity and specificity of the developed approach were verified on a DNA pool isolated from the blood plasma of healthy donors of various nationalities. The concentration of low-molecular-weight mtDNA in the blood plasma of two patients with COVID-19 was monitored over two weeks of inpatient treatment. A significant increase in the content of low-molecular-weight mtDNA was observed during the first 5 days after hospitalization, followed by a drop to the level of healthy donors. The developed technique makes it possible to assess the blood level of low-molecular-weight mtDNA regardless of the quality of sampling and makes it possible to standardize this biological marker in a wide range of infectious and non-infectious pathologies.
This paper reviews a wide range of questions in astrophysics and cosmology that can be answered by astronomical observations in the far-IR to millimeter wavelength range and which include the ...formation and evolution of stars and planets, galaxies, and the interstellar medium, the study of black holes, and the development of the cosmological model. These questions are considered in relation to the Millimetron Space Observatory (Spectrum-M project), which is equipped with a aperture cooled telescope and can operate both as a single-dish telescope and as part of a space-ground very long baseline interferometer.
We evaluated the possibility of using an experimental model of hepatocellular carcinoma to study oncomarkers of primary liver cancer and compared the diagnostic efficacy of alpha-fetoprotein and ...osteopontin in the experiment and in clinical practice. Experimental studies were performed on a model of hepatocellular carcinoma induced by administration of diethyl nitrosamine to Fisher-344 rats. In addition, the levels of α-fetoprotein and osteopontin were determined in 35 patients with hepatocellular carcinoma detected at stages I-II according to TNM classification. The proposed model of liver cancer in rats reflects the sequence of stages characteristic of hepatocellular carcinoma in humans: liver fibrosis—cirrhosis—cancer. This model is applicable for the study of tumor markers at the early stage of tumor development. Osteopontin was found to have a more powerful diagnostic potential then alpha-fetoprotein.
Following the precepts of the teacher Malov, V. M.; Eroshevskaya, E. B.; Malov, I. V.
Rossiĭskiĭ oftalʹmologicheskiĭ zhurnal,
06/2022, Letnik:
15, Številka:
2 (Прил)
Journal Article
Recenzirano
Odprti dostop
A short biography of an outstanding Russian ophthalmologist, Professor Tikhon Ivanovich Eroshevsky is presented to commemorate his 120th anniversary. Professor Eroshevsky made a significant ...contribution to ophthalmological science and practice. He was the founder of a well-known scientific school.
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•Evolution of groundwater on the way from the Middle Pleistocene to the present day.•Four end-members of mixing in groundwater: glacier water, fresh, seawater and brine.•Salty water ...in upper part of aquifers near the coast has a maximum enrichment by 18O.•Stable isotopes was used to clarify 14C and 234U-238U groundwater dating.•Glacial water was penetrated in significant quantities to a depth of 600 m.
Repeated continental glaciations and marine transgressions had a strong influence on the geochemical evolution of groundwater systems of the eastern slope of the Baltic Shield (Arkhangelsk region, Russia). The spectrum from modern fresh waters to very old brines is distributed from the surface to a depth of 1 km in Quaternary and Vendian (Ediacaran) sediments. The purpose of this study was to i) assess the isotopic composition of various types of groundwater, ii) assess the degree of participation of glacial melt and meteoric waters in the processes of dilution of seawater and brines according to isotope-geochemical data, and iii) employ the use of stable isotopes to clarify previously performed groundwater dating. It has been established that the salty water in the upper part of the Vendian aquifer near the modern sea coast has maximum enrichment by heavy isotopes δ18O = −7.7‰ and δ2H = −98.9‰, on average. It is a mixture of 19–51% glacial meltwater and 49–81% seawater. The age of the marine component is 115–130 ka, and the age of the glacial water is similar to that of the Middle Pleistocene. The relict brackish water in the middle part of the Vendian aquifer has the most depleted isotope composition: δ18O = −14.1‰ and δ2H = −106.7‰, on average. It is a mixture of ~3% brine, 8–19% glacial and 78–89% interglacial water, and was formed in the range of 35.3–22.3 ka (Late Pleistocene). The maximum brine content (10–17%) is characteristic of salt water in the lower part of the Vendian aquifer. The isotope composition of the fresh water is close to the weighted annual composition of modern precipitations δ18O = −13.2‰ and δ2H = −98.9‰. Fresh water is a mixture of about 2% seawater, up to 16% glacial water, and 84–100% Holocene water. The age of this water is in the range from the present day to 11.8 ± 1.6 ka. The maximum depth of penetration of melt glacial waters of the Middle Pleistocene is assumed to be 600 m.
Aim. To establish the main external and genetically determined risk factors for the development of hepatocellular cancer in the ethnic group of male Yakuts living in the Republic of Sakha (Yakutia) ...RS (Y) in the epidemiologically unfavorable conditions of the incidence of viral hepatitis. Materials and methods. A total of 97 male Yakuts were examined, including 44 people diagnosed with hepatocellular cancer and 53 people diagnosed with chronic viral hepatitis. HCC risk factors were identified by analyzing medical records and questioning patients. In the experimental and control groups, genetic studies of single nucleotide polymorphisms of genes mapped on the X-chromosome and involved in the activation of antiviral immunity along the TLR7 signaling pathway were performed. Results and discussion. In 100% of patients with hepatocellular cancer, infection with hepatitis B, C, D viruses or co - infection with these agents was detected. Every fourth patient with HCC in the RS (Y) was infected with hepatitis D. The course of hepatocellular cancer associated with HDV was characterized by rapid progression of liver cirrhosis, development of portal hypertension, bleeding from varicose veins of the stomach and esophagus (36.4%) and edematous ascitic syndrome (63.6%). In addition to viral agents, additional risk factors for liver cancer were identified, such as alcohol abuse, overweight, diabetes mellitus, and smoking. Among the studied variation sites of genes localized on the X-chromosome and encoding the reaction of innate antiviral immunity, no genetic marker was found with a sufficient degree of confidence determining the likelihood of hepatocellular cancer developing. Conclusions. The high incidence of hepatocellular carcinoma of the male population in the RS (Y) is due to the widespread prevalence of parenteral viral hepatitis, especially viral hepatitis D. Due to the introduction of mass vaccination of the population against hepatitis B in the Russian Federation in the foreseeable future in the RS (Y) we should see a decrease in the proportion of hepatocellular cancer associated with hepatitis B and D viruses, and therefore the focus should be on the treatment and prevention of hepatitis C virus and non - infectious risk factors.
The frequency of single nucleotide polymorphisms of IFNL3 gene (rsl12979860 and rs8099917) and dinucleotide polymorphism of IFNL4 gene (ss469415590) were estimated in healthy inhabitants of Mongolia ...and Irkutsk regions taking into account their races. Population and genetic studies were performed in 1520 conventionally healthy volunteers (blood donors), representatives of Caucasian and Mongoloid races. Significant race-related differences in the incidence of IFNL3 and IFNL4 gene polymorphisms associated with spontaneous clearance of hepatitis C virus were found in healthy volunteers.
Nowadays multiple heterogeneous chemicals affect the human body. They include drugs, household chemicals, dyes, food supplements and others. The human organism can modify, inactivate, and eliminate ...the chemicals by biotransformation enzymes. But it is well known that biotransformation can lead to toxification phenomenon. Individuals differ from each other by the rate of chemical modification that promotes accumulation of toxins and carcinogens in some patients. An N-acetyltransferase 2 enzyme participates in the aromatic amines second phase metabolism. This work reviews the acetyltransferase gene polymorphism possible role in diseases development including drug-induced organs damage.
Gene of acetyltransferase has polymorphisms associated with two haplotypes of fast and slow substrate acetylation. Gene alleles combine in three genotypes: fast, intermediate, and slow acetylators. Acetylation rate plays a significant role in side effects development during tuberculosis treatment and cancer pathogenesis. Recently, new data described the role of enzyme in development of non-infectious diseases in the human. Scientists consider that slow acetylation genotype in combination with high xenobiotic load result in accumulation of toxic substances able to damage cells.
Therefore, acetyltransferase genotyping helps to reveal risk groups of cancer and non-infectious disease development and to prescribe more effective and safe doses of drugs.
Aim of the research
.
To study the epidemic manifestations of HCV infection in the Republic of Sakha (Yakutia) in order to develop recommendations for improving the effectiveness and quality of ...treatment and prevention measures.
Materials and methods
.
The paper uses materials from the official statistics of the Territorial Department of Rospotrebnadzor of the Republic of Sakha (Yakutia) for 1994–2018, and data from the electronic register «Chronic viral hepatitis
in the RS (Ya)» (2019). Molecular and biological studies of the genotype of the hepatitis C virus were performed jointly
on the basis of the Federal state budgetary Institution «Central research Institute of epidemiology» of Rospotrebnadzor
(2007–2011, n = 75). To assess the epidemiological situation, the rate of increase in morbidity is calculated on the basis
of data equalized by the method of least squares. Statistical processing was performed using the SPSS 17 program.
The critical significance level is assumed to be 0.05.
Results.
Thus, the study of long-term dynamics of the incidence of viral hepatitis shows that in the Republic of Sakha
(Yakutia) a consistently high level of incidence of HCV with adverse trends in the development of the epidemic process
remains. Analysis of the distribution of different variants of HCV genotypes allowed us to establish the prevalence
of genotype 1b, which can determine the high frequency of cirrhosis and primary liver cancer. The current situation
in the Republic regarding the incidence of viral hepatitis requires detailed monitoring, improvement of epidemiological surveillance and introduction of modern treatment methods. It is also necessary to improve the quality of health
education among the population of the Republic.
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