543 research outputs found

    Teaching students in high school using multimedia technologies

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    The peculiarities of the training of specialists in higher education using multimedia technologies are clarified and their importance and necessity for modern education are shown. Based on the recorded didactic and technical pedagogical capabilities of multimedia, we will identify potential functions that can be differentially implemented in the educational space. Manipulation, deformation, contamination, toning of images, discrete presentation of audiovisual information is considered; fixation of a selected part of visual information for movement, its further examination "under a magnifying glass", demonstration of processes and events in the real -time, multi-window presentation of audiovisual information, which intensify the educational process and strengthen the motivational effect in the educational field. Research and experimental work were carried out, which made it possible to find out the peculiarities of the training of specialists in higher education using multimedia technologies and to prove their importance and necessity for modern education. We have reasonably identified the stages that are important for the educational space for the qualitative application of knowledge and skills in the training of specialists; advantages of the introduction of multimedia technologies; various aspects of the use of computer software multimedia tools in the process of professional training of a specialist are named

    ДослідТСння субхронічної токсичності ΠΊΡ€Π΅ΠΌΡƒ Π· наночастинками Ρ†Π΅Ρ€Ρ–ΡŽ діоксиду ΠΏΡ€ΠΈ Π½Π°ΡˆΠΊΡ–Ρ€Π½ΠΎΠΌΡƒ нанСсСнні кролям

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    The development of photoprotectors with cerium dioxide nanoparticles (CDN) for prevention of sunburns and skin cancer is expedient.Aim. To study the subchronic toxicity of the cream with CDN in cutaneous application in rabbits.Materials and methods. The cream with 0.25Β % CDN in the doses of 0.06, 0.18, and 0.60 g/kg was applied cutaneously to Chinchilla rabbits for 90 days. The toxicity was assessed by the general state, behavior of animals, the body mass dynamics, and blood hematological and biochemical indices.Results. The repeated cutaneous application of the cream with CDN in the doses of 0.06, 0.18, and 0.60 g/kg in rabbits did not cause significant changes in the general state and behavior of animals, consumption of food and water, the body mass dynamics, and blood hematological (hemoglobin level, erythrocyte, leukocyte, and thrombocyte count, leukogram) and biochemical (total protein, albumin, glucose, cholesterol, potassium, sodium, and chloride levels, ALT and AST activity) indices. After 1 month of application of the cream in the dose of 0.60 g/kg the glucose level was 44.5Β % higher than in the intact control group, but in 3 months of the experiment differences in this parameter disappeared.Conclusions.The data obtained concerning the safety of the cream with CDN determined the expediency of further non-clinical studies of this photoprotector.Β ΠΠΊΡ‚ΡƒΠ°Π»ΡŒΠ½ΠΎΠΉ являСтся Ρ€Π°Π·Ρ€Π°Π±ΠΎΡ‚ΠΊΠ° Ρ„ΠΎΡ‚ΠΎΠΏΡ€ΠΎΡ‚Π΅ΠΊΡ‚ΠΎΡ€Π½Ρ‹Ρ… срСдств с наночастицами диоксида цСрия (НДЦ) для прСдотвращСния солнСчных ΠΎΠΆΠΎΠ³ΠΎΠ² ΠΈ злокачСствСнных Π½ΠΎΠ²ΠΎΠΎΠ±Ρ€Π°Π·ΠΎΠ²Π°Π½ΠΈΠΉ ΠΊΠΎΠΆΠΈ.ЦСль. Π˜ΡΡΠ»Π΅Π΄ΠΎΠ²Π°Ρ‚ΡŒ ΡΡƒΠ±Ρ…Ρ€ΠΎΠ½ΠΈΡ‡Π΅ΡΠΊΡƒΡŽ Ρ‚ΠΎΠΊΡΠΈΡ‡Π½ΠΎΡΡ‚ΡŒ ΠΊΡ€Π΅ΠΌΠ° с НДЦ ΠΏΡ€ΠΈ Π½Π°ΠΊΠΎΠΆΠ½ΠΎΠΌ нанСсСнии ΠΊΡ€ΠΎΠ»ΠΈΠΊΠ°ΠΌ.ΠœΠ°Ρ‚Π΅Ρ€ΠΈΠ°Π»Ρ‹ ΠΈ ΠΌΠ΅Ρ‚ΠΎΠ΄Ρ‹. ΠšΡ€ΠΎΠ»ΠΈΠΊΠ°ΠΌ ΠΏΠΎΡ€ΠΎΠ΄Ρ‹ Шиншилла Π² Ρ‚Π΅Ρ‡Π΅Π½ΠΈΠ΅ 90 суток Π½Π°ΠΊΠΎΠΆΠ½ΠΎ наносили ΠΊΡ€Π΅ΠΌ с 0,25Β % НДЦ Π² Π΄ΠΎΠ·Π°Ρ… 0,06, 0,18 ΠΈ 0,60 Π³/ΠΊΠ³. Π’ΠΎΠΊΡΠΈΡ‡Π½ΠΎΡΡ‚ΡŒ ΠΎΡ†Π΅Π½ΠΈΠ²Π°Π»ΠΈ ΠΏΠΎ ΠΎΠ±Ρ‰Π΅ΠΌΡƒ ΡΠΎΡΡ‚ΠΎΡΠ½ΠΈΡŽ, повСдСнию ΠΆΠΈΠ²ΠΎΡ‚Π½Ρ‹Ρ…, Π΄ΠΈΠ½Π°ΠΌΠΈΠΊΠ΅ измСнСния массы Ρ‚Π΅Π»Π°, гСматологичСским ΠΈ биохимичСским показатСлям ΠΊΡ€ΠΎΠ²ΠΈ.Π Π΅Π·ΡƒΠ»ΡŒΡ‚Π°Ρ‚Ρ‹. ΠŸΡ€ΠΈ ΠΏΠΎΠ²Ρ‚ΠΎΡ€Π½ΠΎΠΌ Π½Π°ΠΊΠΎΠΆΠ½ΠΎΠΌ нанСсСнии ΠΊΡ€ΠΎΠ»ΠΈΠΊΠ°ΠΌ ΠΊΡ€Π΅ΠΌΠ° с НДЦ Π² Π΄ΠΎΠ·Π°Ρ… 0,06, 0,18 ΠΈ 0,60 Π³/ΠΊΠ³ Π½Π΅ наблюдалось Π·Π½Π°Ρ‡ΠΈΡ‚Π΅Π»ΡŒΠ½Ρ‹Ρ… ΠΈΠ·ΠΌΠ΅Π½Π΅Π½ΠΈΠΉ Π² ΠΎΠ±Ρ‰Π΅ΠΌ состоянии ΠΈ ΠΏΠΎΠ²Π΅Π΄Π΅Π½ΠΈΠΈ ΠΆΠΈΠ²ΠΎΡ‚Π½Ρ‹Ρ…, ΠΏΠΎΡ‚Ρ€Π΅Π±Π»Π΅Π½ΠΈΠΈ ΠΊΠΎΡ€ΠΌΠ° ΠΈ Π²ΠΎΠ΄Ρ‹, Π΄ΠΈΠ½Π°ΠΌΠΈΠΊΠ΅ измСнСния массы Ρ‚Π΅Π»Π°, значСниях гСматологичСских (содСрТаниС Π³Π΅ΠΌΠΎΠ³Π»ΠΎΠ±ΠΈΠ½Π°, количСство эритроцитов, Π»Π΅ΠΉΠΊΠΎΡ†ΠΈΡ‚ΠΎΠ² ΠΈ Ρ‚Ρ€ΠΎΠΌΠ±ΠΎΡ†ΠΈΡ‚ΠΎΠ², Π»Π΅ΠΉΠΊΠΎΠ³Ρ€Π°ΠΌΠΌΠ°) ΠΈ биохимичСских (содСрТаниС ΠΎΠ±Ρ‰Π΅Π³ΠΎ Π±Π΅Π»ΠΊΠ°, Π°Π»ΡŒΠ±ΡƒΠΌΠΈΠ½Π°, Π³Π»ΡŽΠΊΠΎΠ·Ρ‹, холСстСрина, калия, натрия ΠΈ Ρ…Π»ΠΎΡ€ΠΈΠ΄ΠΎΠ², Π°ΠΊΡ‚ΠΈΠ²Π½ΠΎΡΡ‚ΡŒ АлАВ ΠΈ АсАВ) ΠΏΠΎΠΊΠ°Π·Π°Ρ‚Π΅Π»Π΅ΠΉ ΠΊΡ€ΠΎΠ²ΠΈ. Π‘ΠΎΠ΄Π΅Ρ€ΠΆΠ°Π½ΠΈΠ΅ Π³Π»ΡŽΠΊΠΎΠ·Ρ‹ Ρ‡Π΅Ρ€Π΅Π· 1 мСсяц примСнСния ΠΊΡ€Π΅ΠΌΠ° Π² Π΄ΠΎΠ·Π΅ 0,60 Π³/ΠΊΠ³ Π±Ρ‹Π»ΠΎ Π½Π° 44,5Β % Π²Ρ‹ΡˆΠ΅, Ρ‡Π΅ΠΌ Π² Π³Ρ€ΡƒΠΏΠΏΠ΅ ΠΈΠ½Ρ‚Π°ΠΊΡ‚Π½ΠΎΠ³ΠΎ контроля, Π½ΠΎ Ρ‡Π΅Ρ€Π΅Π· 3 мСсяца наблюдСния различия ΠΏΠΎ Π΄Π°Π½Π½ΠΎΠΌΡƒ ΠΏΠ°Ρ€Π°ΠΌΠ΅Ρ‚Ρ€Ρƒ отсутствовали.Π’Ρ‹Π²ΠΎΠ΄Ρ‹. ΠŸΠΎΠ»ΡƒΡ‡Π΅Π½Π½Ρ‹Π΅ Π΄Π°Π½Π½Ρ‹Π΅ ΠΊΠ°ΡΠ°Ρ‚Π΅Π»ΡŒΠ½ΠΎ бСзопасности ΠΊΡ€Π΅ΠΌΠ° с НДЦ обусловили Ρ†Π΅Π»Π΅ΡΠΎΠΎΠ±Ρ€Π°Π·Π½ΠΎΡΡ‚ΡŒ провСдСния Π΄Π°Π»ΡŒΠ½Π΅ΠΉΡˆΠΈΡ… доклиничСских исслСдований этого Ρ„ΠΎΡ‚ΠΎΠΏΡ€ΠΎΡ‚Π΅ΠΊΡ‚ΠΎΡ€Π°.ΠΠΊΡ‚ΡƒΠ°Π»ΡŒΠ½ΠΎΡŽ Ρ” Ρ€ΠΎΠ·Ρ€ΠΎΠ±ΠΊΠ° Ρ„ΠΎΡ‚ΠΎΠΏΡ€ΠΎΡ‚Π΅ΠΊΡ‚ΠΎΡ€Π½ΠΈΡ… засобів Π· наночастинками Ρ†Π΅Ρ€Ρ–ΡŽ діоксиду (НЦД) для попСрСдТСння сонячних ΠΎΠΏΡ–ΠΊΡ–Π² Ρ‚Π° злоякісних Π½ΠΎΠ²ΠΎΡƒΡ‚Π²ΠΎΡ€Π΅Π½ΡŒ ΡˆΠΊΡ–Ρ€ΠΈ.ΠœΠ΅Ρ‚Π°. Дослідити субхронічну Ρ‚ΠΎΠΊΡΠΈΡ‡Π½Ρ–ΡΡ‚ΡŒ ΠΊΡ€Π΅ΠΌΡƒ Π· НЦД ΠΏΡ€ΠΈ Π½Π°ΡˆΠΊΡ–Ρ€Π½ΠΎΠΌΡƒ нанСсСнні кролям.ΠœΠ°Ρ‚Π΅Ρ€Ρ–Π°Π»ΠΈ Ρ‚Π° ΠΌΠ΅Ρ‚ΠΎΠ΄ΠΈ. ΠšΡ€ΠΎΠ»ΡΠΌ ΠΏΠΎΡ€ΠΎΠ΄ΠΈ Шиншила Π²ΠΏΡ€ΠΎΠ΄ΠΎΠ²ΠΆ 90 Π΄Ρ–Π± Π½Π°ΡˆΠΊΡ–Ρ€Π½ΠΎ наносили ΠΊΡ€Π΅ΠΌ Π· 0,25Β % НЦД Π΄ΠΎΠ·Π°ΠΌΠΈ 0,06, 0,18 Ρ– 0,60 Π³/ΠΊΠ³. Π’ΠΎΠΊΡΠΈΡ‡Π½Ρ–ΡΡ‚ΡŒ ΠΎΡ†Ρ–Π½ΡŽΠ²Π°Π»ΠΈ Π·Π° загальним станом, ΠΏΠΎΠ²Π΅Π΄Ρ–Π½ΠΊΠΎΡŽ Ρ‚Π²Π°Ρ€ΠΈΠ½, Π΄ΠΈΠ½Π°ΠΌΡ–ΠΊΠΎΡŽ Π·ΠΌΡ–Π½ΠΈ маси Ρ‚Ρ–Π»Π°, Π³Π΅ΠΌΠ°Ρ‚ΠΎΠ»ΠΎΠ³Ρ–Ρ‡Π½ΠΈΠΌΠΈ Ρ– Π±Ρ–ΠΎΡ…Ρ–ΠΌΡ–Ρ‡Π½ΠΈΠΌΠΈ ΠΏΠΎΠΊΠ°Π·Π½ΠΈΠΊΠ°ΠΌΠΈ ΠΊΡ€ΠΎΠ²Ρ–.Π Π΅Π·ΡƒΠ»ΡŒΡ‚Π°Ρ‚ΠΈ. ΠŸΡ€ΠΈ ΠΏΠΎΠ²Ρ‚ΠΎΡ€Π½ΠΎΠΌΡƒ Π½Π°ΡˆΠΊΡ–Ρ€Π½ΠΎΠΌΡƒ нанСсСнні кролям ΠΊΡ€Π΅ΠΌΡƒ Π· НЦД Π΄ΠΎΠ·Π°ΠΌΠΈ 0,06, 0,18 Ρ– 0,60 Π³/ΠΊΠ³ Π½Π΅ спостСрігалося Π·Π½Π°Ρ‡Π½ΠΈΡ… Π·ΠΌΡ–Π½ Ρƒ Π·Π°Π³Π°Π»ΡŒΠ½ΠΎΠΌΡƒ стані Ρ– ΠΏΠΎΠ²Π΅Π΄Ρ–Π½Ρ†Ρ– Ρ‚Π²Π°Ρ€ΠΈΠ½, споТиванні ΠΊΠΎΡ€ΠΌΡƒ Ρ– Π²ΠΎΠ΄ΠΈ, Π΄ΠΈΠ½Π°ΠΌΡ–Ρ†Ρ– Π·ΠΌΡ–Π½ΠΈ маси Ρ‚Ρ–Π»Π°, значСннях Π³Π΅ΠΌΠ°Ρ‚ΠΎΠ»ΠΎΠ³Ρ–Ρ‡Π½ΠΈΡ… (вміст Π³Π΅ΠΌΠΎΠ³Π»ΠΎΠ±Ρ–Π½Ρƒ, ΠΊΡ–Π»ΡŒΠΊΡ–ΡΡ‚ΡŒ Π΅Ρ€ΠΈΡ‚Ρ€ΠΎΡ†ΠΈΡ‚Ρ–Π², Π»Π΅ΠΉΠΊΠΎΡ†ΠΈΡ‚Ρ–Π² Ρ– Ρ‚Ρ€ΠΎΠΌΠ±ΠΎΡ†ΠΈΡ‚Ρ–Π², Π»Π΅ΠΉΠΊΠΎΠ³Ρ€Π°ΠΌΠ°) Ρ‚Π° Π±Ρ–ΠΎΡ…Ρ–ΠΌΡ–Ρ‡Π½ΠΈΡ… (вміст загального Π±Ρ–Π»ΠΊΠ°, Π°Π»ΡŒΠ±ΡƒΠΌΡ–Π½Ρƒ, глюкози, холСстСрину, ΠΊΠ°Π»Ρ–ΡŽ, Π½Π°Ρ‚Ρ€Ρ–ΡŽ Ρ– Ρ…Π»ΠΎΡ€ΠΈΠ΄Ρ–Π², Π°ΠΊΡ‚ΠΈΠ²Π½Ρ–ΡΡ‚ΡŒ АлАВ Ρ– АсАВ) ΠΏΠΎΠΊΠ°Π·Π½ΠΈΠΊΡ–Π² ΠΊΡ€ΠΎΠ²Ρ–. Вміст глюкози Ρ‡Π΅Ρ€Π΅Π· 1 ΠΌΡ–ΡΡΡ†ΡŒ застосування ΠΊΡ€Π΅ΠΌΡƒ дозою 0,60 Π³/ΠΊΠ³ Π±ΡƒΠ² Π½Π° 44,5Β % Π²ΠΈΡ‰Π΅, Π½Ρ–ΠΆ Ρƒ Π³Ρ€ΡƒΠΏΡ– Ρ–Π½Ρ‚Π°ΠΊΡ‚Π½ΠΎΠ³ΠΎ ΠΊΠΎΠ½Ρ‚Ρ€ΠΎΠ»ΡŽ, Π°Π»Π΅ Ρ‡Π΅Ρ€Π΅Π· 3 місяці спостСрСТСння відмінності Π·Π° Π΄Π°Π½ΠΈΠΌ ΠΏΠ°Ρ€Π°ΠΌΠ΅Ρ‚Ρ€ΠΎΠΌ Π±ΡƒΠ»ΠΈ відсутні.Висновки. ΠžΡ‚Ρ€ΠΈΠΌΠ°Π½Ρ– Π΄Π°Π½Ρ– Ρ‰ΠΎΠ΄ΠΎ Π±Π΅Π·ΠΏΠ΅ΠΊΠΈ ΠΊΡ€Π΅ΠΌΡƒ Π· НЦД ΠΎΠ±ΡƒΠΌΠΎΠ²ΠΈΠ»ΠΈ Π΄ΠΎΡ†Ρ–Π»ΡŒΠ½Ρ–ΡΡ‚ΡŒ провСдСння ΠΏΠΎΠ΄Π°Π»ΡŒΡˆΠΈΡ… Π΄ΠΎΠΊΠ»Ρ–Π½Ρ–Ρ‡Π½ΠΈΡ… Π΄ΠΎΡΠ»Ρ–Π΄ΠΆΠ΅Π½ΡŒ Ρ†ΡŒΠΎΠ³ΠΎ Ρ„ΠΎΡ‚ΠΎΠΏΡ€ΠΎΡ‚Π΅ΠΊΡ‚ΠΎΡ€Π°

    Hyperhomocisteinemia, hypercysteinemia, glutamate excitotoxicity, taurine deficiency at hepatitis C

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    Aim of investigation. An estimation of metabolic disorders related to chronic course of hepatitis C.Material and methods. Total homocysteine (tHCy), total cysteine (tCys), total glutathione (tGSH) and free aminoacids (Asp, Asn, Glu, Gln, Tau, Ser) levels were measured by high-performance liquid chromatography in plasma of 55 hepatitis C patients and 14 healthy volunteers.Results. Total statistical data processing at hepatitis C revealed: hyperhomocisteinemia (2,5 times increase in tHCy level), hypercysteinemia (1,5 times increase in tCys level), glutamate excitotoxicity (2,75 times increase in Glu level on a background of relative decrease of levels of tGSH and Gln), deficiency of taurine (level was decreased 1,4 times), increase of Gln, Asp, Asn, Ser levels 1,56, 1,75, 1,32, 1,4 times respectively. Data processing by nonnormal histogram plotting of substances plasma levels in hepatitis C patients revealed heterogeneity of pathochemistry of hepatitis C for tGSH, tCys and Gln. However in sets both with relatively low and high levels of these substances content of tHCy, Glu and Asp remains increased and reflects hyperhomocisteinemia and glutamate excitotoxicity phenomena. In patients with high content of tGSH and Gln in blood glutamate excitotoxicity was less expressed β€” levels of tHCy, Glu and Asp were increased to lesser degree, strong positive correlation between tGSH, Gln, tCys and Ser was marked.Conclusion. Metabolic therapy can essentially decrease negative effect of metabolic disorders and increase efficacy of PEG-IFN-Ξ± in combination to ribavirin at hepatitis C treatment

    Combination of hypomorphic mutations of the Drosophila homologues of aryl hydrocarbon receptor and nucleosome assembly protein family genes disrupts morphogenesis, memory and detoxification

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    Aryl hydrocarbon receptor is essential for biological responses to endogenous and exogenous toxins in mammals. Its Drosophila homolog spineless plays an important role in fly morphogenesis. We have previously shown that during morphogenesis spineless genetically interacts with CG5017 gene, which encodes a nucleosome assembly factor and may affect cognitive function of the fly. We now demonstrate synergistic interactions of spineless and CG5017 in pathways controlling oxidative stress response and long-term memory formation in Drosophila melanogaster. Oxidative stress was induced by low doses of X-ray irradiation of flies carrying hypomorphic mutation of spineless, mutation of CG5017, and their combination. To determine the sensitivity of these mutants to pharmacological modifiers of the irradiation effect, we irradiated flies growing on standard medium supplemented by radiosensitizer furazidin and radioprotector serotonin. The effects of irradiation were investigated by analyzing leg and antenna morphological structures and by using real-time PCR to measure mRNA expression levels for spineless, Cyp6g1 and Gst-theta genes. We also examined long-term memory in these mutants using conditioned courtship suppression paradigm. Our results show that the interaction of spineless and CG5017 is important for regulation of morphogenesis, long-term memory formation, and detoxification during oxidative stress. Since spineless and CG5017 are evolutionary conserved, these results must be considered when evaluating the risk of combining similar mutations in other organisms, including humans

    Antioxidant defense system: regulation of metabolic processes, genetic determinants, methods of determination

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    An increase in peroxidation activity is considered as a nonspecific process characteristic of the pathogenesis of various diseases accompanied by antioxidant deficiency. As bioregulators that can increase defense, antioxidants are important links in a multi-stage system of regulation and coordination of various body functions. The structure and function of enzymes involved in the regulation of oxidative stress can be significantly affected by genetic polymorphism. To date, the role of genes encoding the activity of enzymes of the antioxidant system in the pathogenesis of many diseases remains unexplored, which is of great interest to researchers from various fields. The article presents a review and analysis of data from modern scientific literature on the role of antioxidant defense components in the regulation of metabolic processes, their genetic determinant, and summarizes data on modern methods for the determination of some antioxidants. When writing the review, the database of the scientific electronic library eLibrary was used, the keywords are oxidative stress, free radical oxidation, antioxidant protection, antioxidants, antioxidant enzymes, enzyme genes, antioxidant response element, research methods; filters – publication years 2012–2022, publications with full text, publications available for viewing; English-language database of medical and biological publications, created by the National Center for Biotechnology Information (NCBI), keywords – lipid peroxidation, antioxidant protection, antioxidants, antioxidant enzymes, enzyme genes, oxidative stress, metabolism, methods

    Cardiofaciocutaneus syndrome: literature review and case report

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    The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome

    Helicobacter pylori as a trigger and aggravating factor in rheumatoid arthritis and other rheumatic diseases

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    Helicobacter pylori is the most common human infection. H. pylori is known to cause chronic gastritis and gastric and duodenal ulcers. However, the H. pylori-host interaction is not confined to the gastric mucosa, the mechanism responsible for the adaptation of this bacterium to the living conditions in the human body, can cause systemic immune imbalance, provoking various autoimmune reactions. The paper considers the investigations demonstrating the possible role of H. pylori as a trigger or aggravating factor in rheumatic diseases, such as rheumatoid arthritis (RA), SjΓΆgren's syndrome and disease, systemic lupus erythematosus, and progressive systemic sclerosis. The relationship between H. pylori and autoimmune diseases is confirmed by the higher frequency of more aggressive strains of this microorganism in rheumatic diseases. There are also clinical trials showing the positive impact of H. pylori eradication on RA activity

    Synthesis and antifungal activity of sulfides, sulfoxides, and sulfones based on (1S)-(-)-Ξ²-pinene

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    Attachment of 2-mercaptoethanol and thioglycolic acid methyl ester to the double bond of (1S)-(-)-Ξ²-pinene yielded pinane sulfides with the cis configuration. Oxidation of sulfides with m-chloroperbenzoic acid yielded the corresponding sulfoxides and sulfones. The resulting compounds were screened for antimycotic activity and the dynamics of changes in antifungal properties in sulfides-sulfoxide-sulfone series were studied. Β© 2010 Springer Science+Business Media, Inc

    Clinical case of hereditary hemochromatosis

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    The article presents a clinical case demonstrating the difficulties of timely diagnosis of hereditary hemochromatosis, presents data on modern diagnosis and approaches to the treatment of the disease according to existing clinical guidelines. The described clinical case of hereditary hemochromatosis is associated with a homozygous mutation of C282Y in HFE gene in a 58-year-old patient and his twin brother. Initially, signs of iron deposition in the liver were found on MRI of the abdominal cavity. In laboratory analyses, the patient was found to have an increased level of serum iron - 40 Β΅mol/l and ferritin - 1340 ng/ml. Subsequently, the investigation of HFE gene mutations was carried out and a mutation of C282Y in homozygous form (genotype A/A) was found, which is a molecular genetic confirmation of hereditary hemochromatosis of type 1. At the same time, the patient's twin brother at the targeted examination had the serum iron level of 36 Β΅mol/l, the ferritin level of 600 ng/ml, and also the mutation of HFE gene, the allelic variant of A/A. The results of liver fibroelastometry of the patient correlate with the degree of fibrosis F1 by Metavir scale. Timely started therapeutic phlebotomies led to improved clinical and laboratory parameters of iron metabolism while maintaining normal levels of red blood cells and hemoglobin
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