Severe combined immunodeficiency (SCID) is a group of inborn errors of immunity (IEI) characterized by severe T-and/or B-lymphopenia. At birth, there are usually no clinical signs of the disease, but in the first year of life, often in the first months the disease manifests with severe infections. Timely diagnosis and treatment play a crucial role in patient survival. In Ukraine, the expansion of hemostatic stem cell transplantation and the development of a registry of bone marrow donors in the last few years have created opportunities for early correction of IEI and improving the quality and life expectancy of children with SCID. For the first time in Ukraine, we initiated a pilot study on newborn screening for severe combined immunodeficiency and T-cell lymphopenia by determining T cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs). The analysis of TREC and KREC was performed by real-time polymerase chain reaction (RT-PCR) followed by analysis of melting curves in neonatal dry blood spots (DBS). The DBS samples were collected between May 2020 and January 2022. In total, 10,350 newborns were screened. Sixty-five blood DNA samples were used for control: 25 from patients with ataxia-telangiectasia, 37 -from patients with Nijmegen breakage syndrome, 1with X-linked agammaglobulinemia, 2with SCID (JAK3 deficiency and DCLRE1C deficiency). Retest from the first DBS was provided in 5.8% of patients. New sample test was needed in 73 (0.7%) of newborns. Referral to confirm or rule out the diagnosis was used in 3 cases, including one urgent abnormal value. CID (T low B+NK+) was confirmed in a patient with the urgent abnormal value. The results of a pilot study in Ukraine are compared to other studies (the referral rate 1: 3,450). Approbation of the Frontiers in Immunology frontiersin.org 01
Background. ω-3 polyunsaturated fatty acids (ω-3 PUFA) in treatment of inflammations were presented in many clinical studies. Although inflammatory responses are carried out by a wide spectrum of cells, CD4 T-cells are crucial in the etiology of many chronic inflammatory diseases, e.g. inflammatory bowel disease, systemic lupus erythematosus, psoriatic arthritis and obesity. In light of recent concerns over the safety of non-steroidal anti-inflammatory drugs (NSAIDs), the alternatives, such as bioactive agents, are becoming more attractive. In order for these agents to be recognized by mainstream medicine, the mechanisms of anti-inflammatory effect of bioactive agents, such as ω-3 PUFA, should be fully revealed. Objectives. The aim of the research was to evaluate the influence of ω-3 PuFa on immunocompetent cell membranes and the parameters of cellular and humoral immunity in children with rheumatoid arthritis (RA). Material and methods. With the consent of their parents, 53 children hospitalized with RA and 15 healthy children 5-16 years of age were enrolled in the research. The children were randomized into 2 groups: the first group of the examined patients underwent backbone therapy, the second-backbone therapy with ω-3 PUFA. Immunity parameters (CD3,
The creation of geodetic networks for open deposits has its own characteristics, in contrast to the creation of conventional geodetic networks. Surveying networks of support points for groups of quarries and individual quarries located in developed mining regions, as well as in large industrial, hydraulic and agricultural structures adjacent to cities, are being developed on the basis of existing networks of higher-class triangulation points. In the absence of higher-class triangulation points, open source support networks are created independently. The study of geodetic monitoring in mining, especially in deposits that are developed in an open way. The design of geodetic reference networks depends entirely on the shape of the quarry and the system of its opening. According to its form, choose the method of creating a planned geodetic basis. For the most part, a backbone network is created to further condense and create a film network.After analyzing the methods of creating a spatial reference network for open deposits, we concluded that the classical methods of creating a planned-height geodetic network on the territory of the mining enterprise are time-consuming, long-term and economically unprofitable. The GNSS method is the best for creating such networks at present. Of course, it cannot fully replace all methods due to various constraints, such as interference, lack of communication, and adverse weather conditions. Therefore, given the advantages and disadvantages of the methods analyzed in the article to create spatial networks in open fields, the authors consider it appropriate to combine the GNSS method with polygonometry, as the use of only satellite measurement method is impractical, but in combination with polygonometry -altitude networks for geodetic works. This combination significantly reduces measurement time, is less time-consuming, cost-effective and meets the accuracy requirements of the relevant networks. Approbation of the combination of methods for the creation of a spatial geodetic network for monitoring the open field was carried out at the Vilnohirsk mining and metallurgical plant.
Early diagnosis and timely treatment of combined immunodeficiency (CID) is extremely important for the child’s future life. At birth, children often have no specific signs of the disease, but from the first months of life CID manifests by severe infections that can impact on the results of further treatment. Detection of T-cell lymphopenia by determining the number of T-cell receptor excision circles (TRECs) in a dry spot after the birth of a child formed the basis for newborn screening for severe CID. KREC (kappa-deleting recombination excision circle) assay is used for detection of B-cell lymphopenia. Clinical case. We report the first case of CID (T-B+NK+) suspected by detection of TREC in Ukraine in a 2.5-month-old child. Immunodeficiency was manifested by severe complicated pneumonia at the age of 2 months, which had an atypical course and was resistant to treatment. A screening study to detect T- and B-lymphopenia using the TREC/KREC assay twice showed a zero TREC value and a KREC number of 3.12×105 per 106 cells, indicating severe CID. Subsequent immunological studies confirmed the deficiency of T-cell immunity. Venous thrombosis and increasing multiorgan failure led to the death of the child. Thus, newborn screening using TREC assay will allow the timely detection of severe combined immunodeficiencies with further adequate therapy and measures to prevent life-threatening infections, including SARS-CoV-2. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.
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