221,137 results match your criteria: "Russia; Research Centre for Medical Genetics[Affiliation]"

Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.

Orphanet J Rare Dis

January 2025

Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich- Heine University, Düsseldorf, Germany.

Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.

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Background: Highly frequent colorectal cancer (CRC) is predicted to have 3.2 million novel cases by 2040. Tumor microenvironment (TME) bacteriome and metabolites are proposed to be involved in CRC development.

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With the development of next-generation sequencing (NGS) technologies it became possible to simultaneously analyze millions of variants. Despite the quality improvement, it is generally still required to confirm the variants before reporting. However, in recent years the dominant idea is that one could define the quality thresholds for "high quality" variants which do not require orthogonal validation.

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Salivary steroids in acute central serous chorioretinopathy.

Int Ophthalmol

January 2025

University of Pittsburgh, UPMC Eye Center, 203 Lothrop Street, Pittsburgh, PA, 15213, USA.

Purpose: To analyze levels of salivary steroids, including 17-OH-progesterone (17-OHP), androstenedione, dehydroepiandrosterone, cortisol, cortisone, progesterone, testosterone, and estradiol, in patients with acute central serous chorioretinopathy (CSCR) patients.

Methods: Acute CSCR patients and healthy individuals were included in this observational case-control study. Levels of salivary steroids were determined by high-performance liquid chromatography with tandem mass spectrometry detection.

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Chronic non-specific low back pain (CNSLBP) is a debilitating condition that affects millions of people worldwide, significantly impacting quality of life and imposing a substantial socioeconomic burden. Traditional treatment approaches often rely on a one-size-fits-all strategy, failing to account for individual variations in pathophysiological mechanisms, drivers, and the principles of personalized medicine. Furthermore, an overemphasis on biomechanical findings from imaging may lead to ineffective interventions and unnecessary surgical procedures, obscuring other important factors that contribute to pain perception.

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The aim of the present study was to obtain new metal complexes of citrus pectin with cobalt ions based on potassium polygalacturonate and to prepare a new pharmacological composition (PC) PGKCo: PGNaCo (1:1) with antitumor activity based on potassium cobalt polygalacturonate (PGKCo) and sodium cobalt polygalacturonate (PGNaCo). The study of the effect of PGKCo, PGNaCo and PC on the cell viability of tumor cell lines of different genesis in vitro showed that the obtained compounds are soluble in water and exhibit selective cytotoxic activity against the tumor cell lines of human lung carcinoma A549, breast adenocarcinoma MCF-7 and cervical carcinoma M-HeLa, with no significant toxic effect on normal human cells. The possible mechanism of action of the investigated PC on M-HeLa cancer cells was investigated.

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The radionuclide contamination of the environment is an abiotic stress factor that influences biological systems. Plants growing in contaminated areas for many generations provide a unique opportunity to study adaptive strategies aimed at maintaining homeostasis under elevated radiation levels. Using non-targeted metabolomics approaches, we investigated the metabolomic profiles of Achillea millefolium L.

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Background: Prolgolimab is an IgG1 anti-PD-1 monoclonal antibody with the Fc-silencing 'LALA' mutation. The phase III DOMAJOR study assessed efficacy and safety of prolgolimab in combination with pemetrexed and platinum-based chemotherapy vs placebo in combination with pemetrexed and platinum-based chemotherapy as first-line treatment for advanced non-small cell lung cancer (NSCLC).

Methods: 292 patients with advanced non-squamous NSCLC were randomized 1:1 to receive 4 cycles of pemetrexed, platinum-based drug and either prolgolimab (3 mg/kg Q3W) or placebo followed by prolgolimab/placebo with pemetrexed until disease progression or toxicity (≤36 months).

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The stone marten (Martes foina) is an important species for cytogenetic studies in the order Carnivora. ZooFISH probes created from its chromosomes provided a strong and clean signal in chromosome painting experiments and were valuable for studying the evolution of carnivoran genome architecture. The research revealed that the stone marten chromosome set is similar to the presumed ancestral karyotype of the Carnivora, which added an additional value for the species.

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Reactive oxygen species (ROS) produced by NADPH oxidase promote contraction of peripheral arteries, which is especially pronounced in early postnatal period in comparison to adulthood, but the mechanisms of such vasomotor influence are poorly understood. We tested the hypothesis that Rho-kinase and protein kinase C (PKC) mediate procontractile influence of NADPH oxidase derived ROS in peripheral artery of early postnatal rats. In addition, we evaluated the involvement Src-kinase and L-type voltage-gated Ca channels (LTCC) into procontractile influence of ROS, produced by NADPH oxidase, because of their known interplay with Rho-kinase and PKC pathways.

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Using tremendous photon statistics gained with the stray light aperture of the NuSTAR telescope over 11 years of operation, we set strong limits on the emission of close to monochromatic photons from the radiative decays of putative dark matter sterile neutrinos in the Milky Way. In the energy range of 3-20 keV covered by the NuSTAR, the obtained limits reach the bottom edge of theoretical predictions of realistic models where sterile neutrinos are produced in the early Universe. Only a small region is left to explore, if the sterile neutrinos form the entire dark matter component.

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Upper Limit on the Photoproduction Cross Section of the Spin-Exotic π_{1}(1600).

Phys Rev Lett

December 2024

Thomas Jefferson National Accelerator Facility, Newport News, Virginia 23606, USA.

The spin-exotic hybrid meson π_{1}(1600) is predicted to have a large decay rate to the ωππ final state. Using 76.6  pb^{-1} of data collected with the GlueX detector, we measure the cross sections for the reactions γp→ωπ^{+}π^{-}p, γp→ωπ^{0}π^{0}p, and γp→ωπ^{-}π^{0}Δ^{++} in the range E_{γ}=8-10  GeV.

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Precise Measurement of the e^{+}e^{-}→D_{s}^{+}D_{s}^{-} Cross Section at Center-of-Mass Energies from Threshold to 4.95 GeV.

Phys Rev Lett

December 2024

State Key Laboratory of Particle Detection and Electronics, Beijing 100049, Hefei 230026, People's Republic of China.

Using the e^{+}e^{-} collision data collected with the BESIII detector operating at the BEPCII collider, at center-of-mass energies from the threshold to 4.95 GeV, we present precise measurements of the cross section for the process e^{+}e^{-}→D_{s}^{+}D_{s}^{-} using a single-tag method. The resulting cross section line shape exhibits several new structures, thereby offering an input for a future coupled-channel analysis and model tests, which are critical to understand vector charmonium-like states with masses between 4 and 5 GeV.

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Adapting biological systems for nanoparticle synthesis opens an orthogonal Green direction in nanoscience by reducing the reliance on harsh chemicals and energy-intensive procedures. This study addresses the challenge of efficient catalyst preparation for organic synthesis, focusing on the rapid formation of palladium (Pd) nanoparticles using bacterial cells as a renewable and eco-friendly support. The preparation of catalytically active nanoparticles on the bacterium VKM B-3302 represents a more suitable approach to increase the reaction efficiency due to its resistance to metal salts.

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Introduction: Vitex L. is a large genus of tropical and subtropical trees used in medicine of many nations. Some species are used in gynecology due to flavonoids, iridoids, and diterpenes.

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Mycobacteriophages are viruses that specifically infect bacteria of the Mycobacterium genus. A substantial collection of mycobacteriophages has been isolated and characterized, offering valuable insights into their diversity and evolution. This collection also holds significant potential for therapeutic applications, particularly as an alternative to antibiotics in combating drug-resistant bacterial strains.

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Risks of anti- therapy and long-term therapy with antisecretory drugs.

World J Gastroenterol

January 2025

Department of Therapy, North Caucasus State Academy, Cherkessk 369000, Russia.

() infection has a protective effect on gastroesophageal reflux disease (GERD). Both of these diseases have a very high incidence and prevalence. As a result, GERD often recurs after anti- therapy.

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Introduction: Fatal and non-fatal occupational injuries are one of the most important public health problems all over the world. Its number greatly varies from country to country over the years. Worldwide approximately 4% of global gross domestic product (GDP) is lost due to occupational injuries.

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The replenishment of our stock of substances that possess a therapeutic potential is an important objective in modern biomedicine. Despite the important advances achieved in chemical synthesis, the natural diversity of organisms and microorganisms remains an important source of biologically active compounds. Here, we report the results of our study of a unique collection containing more than 3,000 samples of yeasts found on the Kamchatka Peninsula, the Kuril Islands, and Sakhalin Island, Russia.

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Woody and herbaceous plants are the main components of global terrestrial ecosystems, and their growth, adaptation and survival depend largely on the metabolism of shoots and roots. Therefore, understanding size-scaling of metabolic rates in woody and herbaceous plants, and in shoots and roots, is a fundamental issue in ecology. However, few empirical studies have examined metabolic scaling exponents across a wide range of plant sizes.

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Introduction: Research indicates that parental behaviors shape adolescents' alcohol consumption, but it is unclear whether mothers or fathers have a more significant impact and how this relationship varies by sex and developmental stage. This study examines the effects of parental alcohol consumption patterns on adolescents in Russia using a large representative sample.

Methods: The study employs pooled data from the Russia Longitudinal Monitoring Survey-Higher School of Economics (RLMS-HSE) from 2006 to 2019.

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The work is devoted to the study of the physiological variability of the microcirculatory-tissue system (MTS) parameters under normal conditions and during functional tests. The results were obtained in vivo using multimodal wearable analyzers implementing methods of laser Doppler flowmetry and fluorescence spectroscopy. Comprehensive data analysis and calculation of the coefficients of variation of the MTS parameters of the human body for various topographic and anatomical areas of the skin were carried out.

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The proteins expressed during the cell cycle determine cell function and ensure signaling pathway activation in response to environmental influences. Developments in structural biology, biophysics, and bioinformatics provide information on the structure and function of particular proteins including that on the structural changes in proteins due to post-translational modification (PTM) and amino acid substitutions (AAS), which is essential for understanding protein function and life cycle. These are PTMs and AASs that often modulate the function and alter the stability and localization of a protein in a cell.

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This paper describes a method for determining the cytotoxicity of chemical compounds based on the detection of fluorescent proteins-in this case, green fluorescent protein (GFP) and red fluorescent protein (RFP), which are released into the medium from dead cells. This method is similar in principle to the lactate dehydrogenase test (LDH test), but it does not require a reaction with a chromogenic substrate. This method also makes it possible to independently determine the viability of different lines when used in cocultures.

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Background: The smear layer formed during root canal instrumentation negatively affects root canal irrigation activity, which in turn can affect the treatment prognosis of endodontic treatment.

Aim: The aim of this study is to compare the efficiency of smear layer and debris removal in root canals using different irrigation protocols using scanning electron microscopy (SEM).

Materials And Methods: The quality of smear layer removal throughout the root canal was assessed in 30 intact extracted teeth divided into 3 groups according to the irrigation protocol: Group 1: 3% sodium hypochlorite (NaOCL) alternately with 17% ethylenediaminetetraacetic acetate (EDTA) was used.

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