Newborn Screening: Review of its Impact for Cystinosis

Clinical course; Infantile nephropathic cystinosis; Newborn screeningCurso clínico; Cistinosis nefropática infantil; Cribado de recién nacidosCurs clínic; Cistinosi nefropàtica infantil; Cribratge de nounatsNewborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy. However, while many rare diseases can now be detected at an early stage using appropriate diagnostics, the introduction of a new target disease requires a detailed analysis of the entire screening process, including a robust scientific background, analytics, information technology, and logistics. In addition, ethics, financing, and the required medical measures need to be considered to allow the benefits of screening to be evaluated at a higher level than its potential harm. Infantile nephropathic cystinosis (INC) is a very rare lysosomal metabolic disorder. With the introduction of cysteamine therapy in the early 1980s and the possibility of renal replacement therapy in infancy, patients with cystinosis can now reach adulthood. Early diagnosis of cystinosis remains important as this enables initiation of cysteamine at the earliest opportunity to support renal and patient survival. Using molecular technologies, the feasibility of screening for cystinosis has been demonstrated in a pilot project. This review aims to provide insight into NBS and discuss its importance for nephropathic cystinosis using molecular technologies

The technology of augmented reality as a motivational factor for EFL future soil scientists in learning foreign language terminology of chemical elements

Currently augmented reality technology, as one of innovative tools, is rapidly penetrating the process of mastering a foreign language, helping to diversify and optimize the learning process for a new generation of students. The use of augmented reality technology in the foreign language educational process helps to increase motivation of students to study a foreign language at a university. The purpose of the study is to examine and analyze the impact of augmented reality technology on future soil specialists’ motivation in the process of learning English as a foreign language. To achieve the goal of the study, a comprehensive research methodology was chosen: theoretical analysis of scientific, pedagogical and methodological literature on the topic of research, pedagogical observation, survey, interview, analysis of the research results. Along with traditional methods, the elements of augmented reality were introduced in the process of teaching a foreign language to first-year students of non-linguistic specialties in order to identify the effectiveness of the influence of the technology on students’ motivation in learning English as a foreign language. The authors conclude that the technology of augmented reality has a didactic potential in the study of a foreign language in general and in the study of foreign language terminology of chemical elements in particular

Modeling the dynamics of speech behavior in the pragmatics of the language

The research is devoted to the study of the author's behavior in the texts of personal correspondence. The research is based on the material of letters of writers of the early twentieth century. The subject of the study was a corpus of texts by six writers. Collectively, the study of (linguistic-rhetorical) works. The analysis was carried out from the position of studying the author's strategy of influencing the reader in order to study the formation of a certain attitude. The use of pragmalinguistic methods of studying the speaker's speech portrait in the context of diachronic personality development allows us to identify personal speech preferences that characterize the speaker and determine the dynamics of his personality development based on his speech preferences. The conducted experiments show the possibility of speech diagnostics of the speaker's personality and reconstruct his speech portrait based on the materials of the monuments of writing

Congenital and Acquired Interferonopathies: Differentiated Approaches to Interferon Therapy

This chapter reviews various interferon (IFN) system disturbances—interferonopathies. The authors describe clinical specifics of type I interferonopathy associated with overexpression of IFNα—which is a rare Mendelian genetic disease. Certain autoimmune diseases (systemic lupus erythematosus (SLE), vasculitis, immune dysregulation syndrome, etc.) are also characterized by overproduction of IFNα. Furthermore the most common interferonopathies are described—deficiencies of IFN, congenital or acquired IFNα/IFNβ and IFNγ deficiencies in children and adults. Deficiency of IFNα/IFNβ associated with severe recurrent viral infections and deficiency of IFNγ cause mycobacterial infection. Interferon-corrective therapy methods are described. The target therapy of type I interferonopathies (biologics) binds IFNα and normalizes the high level of IFNα. From the other side, patients with congenital IFNα deficiencies are needed in replacement IFN therapy. In case of acquired IFNα deficiency, the differentiated interferon-corrective therapy is performed. In both replacement and interferon-corrective therapies, recombinant human IFNα2b in complex with antioxidants (Viferon®) can be used, because their application is safe and has good clinical efficiency and no side effects

Remodeling of Phenotype CD16 + CD11b + Neutrophilic Granulocytes in Acute Viral and Acute Bacterial Infections

Neutrophilic granulocytes (NGs) are very important cells of innate immunity that can very quickly realize antibacterial and antiviral defense. Until the present time, the phenomenon of different levels of presentations of membrane receptors CD16 and CD11b NG in normal and pathological conditions wasn’t studied. We had studied the population of CD16+CD11b+NG in two groups of patients with acute viral and acute bacterial infections in the models of acute bacterial tonsillitis (ABT) and acute viral tonsillitis-EBV infection (AEBVI), having the same clinical symptoms in early stages of the disease. Comparative analysis of the redistribution of equipment intensity of CD16 and CD11b has detected three subpopulations of CD16+CD11b+NG population—CD16brightCD11bbright, CD16brightCD11bdim, and CD16dimCD11bbright—in normal and pathological conditions. It was found that subpopulation CD16brightCD11bdimNG dominates in healthy individuals; subpopulation CD16brightCD11bbrightNG dominates in patients with acute viral infection; subpopulation CD16dimCD11bbrightNG dominates in patients with acute bacterial infections. We had demonstrated that the study of CD16+CD11b+NG subpopulations allows in early stage of diseases to diagnose acute viral and acute bacterial infections. Our studies have demonstrated the positive effects of eukaryotic DNA sodium salt on the negatively altered phenotype subpopulation CD16+CD11b+NG, in particular, through the remodeling of the expression of CD11b on NG membrane

INTEGRATION DIAGNOSTIC CRITERION FOR EVALUATION OF THE SEVERITY OF COVID-19 AND THE RISK OF POST-COVID SYNDROME

The pathophysiology of severe COVID-19 is characterized by changes in the number, phenotype, and function of neutrophil granulocytes (NG). Among the effector antiviral mechanisms of NC, neutrophil extracellular traps (NETs) are one of the most important, but their excessive formation exacerbates inflammation in acute respiratory distress syndrome and contributes to microvascular thrombosis. Their detection and quantification may be important in various forms of the course of COVID-19 to determine the correlation with the outcome of the disease, assess the risk of developing post-COVID syndrome, and possibly monitor future targeted therapy.Purpose of the study: to develop a new diagnostic integration criterion to assess the severity of COVID-19 and the risk of complications in the post-COVID period, including post-COVID syndrome in peripheral blood.Materials and Methods: Peripheral blood (PB) samples were studied from 31 patients with acute COVID-19 (moderate (n=15) and severe (n=16)), 52 patients discharged from the hospital after severe COVID-19 treatment severity, in terms of 30 to 60 days, with post-COVID syndrome (PCS) and 100 healthy volunteers. The parameters of the general clinical blood test (MicroCC-20Plus) were evaluated, the leukocyte formula was calculated in PC smears, taking into account the number of formed NETs and NGs that went into pathological apoptosis. Based on the obtained results, an integration diagnostic criterion was calculated using the formula:.Results. A decrease in IDC was shown in the moderate course of the disease by 8,5 times (p<0,05), and in severe cases by 30 times(p<0,05) compared with the values in the group of healthy individuals. It was also found that in 88,5% of patients with PCS who underwent SARS-CoV-2, no morphologically pathologically altered NG were detected in the PB. At the same time, in 11.5% of patients with PCS, the appearance of NETs and cells with pathological apoptosis was noted, while the IDC of NG-PCS was 8 times less than in the comparison group and did not differ from the parameters of patients with moderate COVID-19 (p>0,05), which dictates the need for further dispensary observation of such patients.Conclusion. The data obtained in this study indicate that the developed integration diagnostic criterion allows us to assess both the severity of COVID-19 in the acute period and the risk of post-COVID syndrome. It should be emphasized that the characteristic changes in NG detected in COVID-19 can be easily identified in PB and consistently monitored by the calculated integral diagnostic criterion. A significant decrease in IDC indicates the persisting hyper activation of NG and the need for targeted immunotherapy aimed at modulating NG dysfunctions

Phenological shifts of abiotic events, producers and consumers across a continent

Ongoing climate change can shift organism phenology in ways that vary depending on species, habitats and climate factors studied. To probe for large-scale patterns in associated phenological change, we use 70,709 observations from six decades of systematic monitoring across the former Union of Soviet Socialist Republics. Among 110 phenological events related to plants, birds, insects, amphibians and fungi, we find a mosaic of change, defying simple predictions of earlier springs, later autumns and stronger changes at higher latitudes and elevations. Site mean temperature emerged as a strong predictor of local phenology, but the magnitude and direction of change varied with trophic level and the relative timing of an event. Beyond temperature-associated variation, we uncover high variation among both sites and years, with some sites being characterized by disproportionately long seasons and others by short ones. Our findings emphasize concerns regarding ecosystem integrity and highlight the difficulty of predicting climate change outcomes. The authors use systematic monitoring across the former USSR to investigate phenological changes across taxa. The long-term mean temperature of a site emerged as a strong predictor of phenological change, with further imprints of trophic level, event timing, site, year and biotic interactions.Peer reviewe

Chronicles of nature calendar, a long-term and large-scale multitaxon database on phenology

We present an extensive, large-scale, long-term and multitaxon database on phenological and climatic variation, involving 506,186 observation dates acquired in 471 localities in Russian Federation, Ukraine, Uzbekistan, Belarus and Kyrgyzstan. The data cover the period 1890-2018, with 96% of the data being from 1960 onwards. The database is rich in plants, birds and climatic events, but also includes insects, amphibians, reptiles and fungi. The database includes multiple events per species, such as the onset days of leaf unfolding and leaf fall for plants, and the days for first spring and last autumn occurrences for birds. The data were acquired using standardized methods by permanent staff of national parks and nature reserves (87% of the data) and members of a phenological observation network (13% of the data). The database is valuable for exploring how species respond in their phenology to climate change. Large-scale analyses of spatial variation in phenological response can help to better predict the consequences of species and community responses to climate change.Peer reviewe

Augmented reality technology in the foreign language classroom in a non-linguistic university

The article determines the necessity of using augmented reality technologies in the formation of professional foreign language competence of chemistry students of non-linguistic universities with the use of the methods of modeling of educational material, complementing it with visual and audio sequences, and developing students’ skills of multifaceted projecting of situational reality. The goal of the study was to prove that, within the innovative educational augmented reality platform, the efficiency of the process of forming of the students’ professional foreign language competence significantly increases. As part of the experimental work based on complex methods of research, such as: general theoretical methods (analysis, comparison, matching, generalization of the pedagogical, methodological, psychological, special literature, the implementation of the introduction of new augmented reality technologies); logical and comparative analytical methods (study of the accumulated the Russian and foreign experience in implementing of augmented reality technologies); empirical methods (survey, pedagogical experiment, observation, study and generalization of the advanced pedagogical experience, diagnostics, surveys, interviews, testing), – the effectiveness of using augmented reality technology during the formation of chemistry students’ professional foreign language competence is proved: students’ progress and understanding of the material improves, professional foreign language competence forms faster, the level of motivation increases, the degree of involvement in the learning process and interest in the subject increases, the level of communication between students grows

Modeling the dynamics of speech behavior in the pragmatics of the language

The research is devoted to the study of the author's behavior in the texts of personal correspondence. The research is based on the material of letters of writers of the early twentieth century. The subject of the study was a corpus of texts by six writers. Collectively, the study of (linguistic-rhetorical) works. The analysis was carried out from the position of studying the author's strategy of influencing the reader in order to study the formation of a certain attitude. The use of pragmalinguistic methods of studying the speaker's speech portrait in the context of diachronic personality development allows us to identify personal speech preferences that characterize the speaker and determine the dynamics of his personality development based on his speech preferences. The conducted experiments show the possibility of speech diagnostics of the speaker's personality and reconstruct his speech portrait based on the materials of the monuments of writing