Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease.

Mutations in the gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), cause Gaucher disease (GD) and are the most common genetic risk factor for Parkinson's disease (PD). Pharmacological chaperones (PCs) are being developed as an alternative treatment approach for GD and PD. To date, NCGC00241607 (NCGC607) is one of the most promising PCs.

Cytokine Storm Signature in Patients with Moderate and Severe COVID-19.

Hypercytokinemia, found in SARS-CoV-2 infection, contributes to multiple organ dysfunctions with acute respiratory distress syndrome, shock etc. The aim of this study was to describe cytokine storm signatures in patients with acute COVID-19 and to investigate their influence on severity of the infection. Plasma levels of 47 cytokines were investigated in 73 patients with moderate and severe COVID-19 (41 and 32, respectively) and 11 healthy donors (HD).

Personalized treatment of malignant tumors during pregnancy.

The combination of pregnancy and cancer is a challenge for the patient and a problematic clinical dilemma for the doctor. In this retrospective observational cohort study, we have tried to analyze our experience in the management of such patients. This review includes 41 patients with malignant neoplasms detected during pregnancy who received treatment at the Almazov National Medical Research Centre from 2015-2021.

Imbalanced Immune Response of T-Cell and B-Cell Subsets in Patients with Moderate and Severe COVID-19.

Background: The immunological changes associated with COVID-19 are largely unknown.

Methods: Patients with COVID-19 showing moderate ( = 18; SpO2 > 93%, respiratory rate > 22 per minute, CRP > 10 mg/L) and severe ( = 23; SpO < 93%, respiratory rate >30 per minute, PaO/FiO ≤ 300 mmHg, permanent oxygen therapy, qSOFA > 2) infection, and 37 healthy donors (HD) were enrolled. Circulating T- and B-cell subsets were analyzed by flow cytometry.

The Significance of Phenotyping and Quantification of Plasma Extracellular Vesicles Levels Using High-Sensitivity Flow Cytometry during COVID-19 Treatment.

New investigation results point to the potential participation of extracellular vesicles (EVs) in the pathogenesis of coronavirus infection, its progression, and mechanisms of the therapy effectiveness. This dictates the necessity to transfer scientific testing technologies to medical practice. Here, we demonstrated the method of phenotyping and quantitative analysis of plasma EVs based on differential centrifugation, immunostaining, and high-sensitivity multicolor flow cytometry.

Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.

Mutations in the glucocerebrosidase gene (GBA) encoding the lysosomal enzyme glucocerebrosidase (GCase) cause Gaucher disease (GD) and are the most commonly known genetic risk factor for Parkinson disease (PD). Ambroxol is one of the most effective pharmacological chaperones of GCase. Fourteen GD patients, six PD patients with mutations in the GBA gene (GBA-PD), and thirty controls were enrolled.

[Benz(a)pyrenes and N-nitrosamines in dry dairy products].

Results of works induding study of effect of different factors (environment, type of equipment, technology) on content of cancerogenic substances in dry milk products were summarized. Possible reasons of appearance of cancerogens in milk in process of drying were determined, dataes of concentration of benz(a)pyren and N-nytrozamens in milk and warmth carrier before and after drying were established. Explanation of separate appearances which connect with change of quantity of cancerogens in product on different stages of drying was suggested.

[Evaluation of a drying procedure for dairy products coming in direct contact with flue gases from the oncologic viewpoint].

The study was concerned with ambient air and heat-transfer medium levels of benzo(a)-pyrene (BP) and N-nitrosoamines (NA) measured at the input and output of the drying chamber of two milk dryers using different systems of heat generation. Said concentrations were ascertained in the dried product (casein), too. One installation used electricity-heated ambient air, while the other--air-diluted products of natural gas combustion.

[Pulsed method of sampling in monitoring of carcinogenic substances in gaseous atmosphere].

Experiments using various types of gas samplers showed that application of A phi A type fibrous material-containing filters for benzo(a)pyrene monitoring may result in significant underestimation of the carcinogen level in the air. The authors developed pulsed sampler using suspended layer of sorbent which proved most effective in catching benzo(a)pyrene in gaseous atmosphere. The unit allows simultaneous sampling of carcinogenic polycyclic aromatic hydrocarbons and N-nitroso compounds.