30 research outputs found

    Ultra-performance liquid chromatography-mass spectrometry for precise fatty acid profiling of oilseed crops

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    Oilseed crops are one of the most important sources of vegetable oils for food and industry. Nutritional and technical properties of vegetable oil are primarily determined by its fatty acid (FA) composition. The content and composition of FAs in plants are commonly determined using gas chromatography-mass spectrometry (GS-MS) or gas chromatography-flame ionization detection (GC-FID) techniques. In the present work, we applied ultra-performance liquid chromatography-mass spectrometry (UPLC-MS) technique to FA profiling of sunflower and rapeseed seeds and compared this method with the GC-FID technique. GC-FID detected 11 FAs in sunflower and 13 FAs in rapeseed, while UPLC-MS appeared to be more sensitive, detecting about 2.5 times higher numbers of FAs in both plants. In addition to even-chain FAs, UPLC-MS was able to detect odd-chain FAs. The longest FA detected using GC-FID was an FA with 24 carbon atoms, whereas UPLC-MS could reveal the presence of longer FAs with the tails of up to 28 carbon atoms. Based on our results, we may conclude that UPLC-MS has great potential to be used for the assessment of FA profiles of oil crops

    Pre-exposure prophylaxis of new COVID-19 coronavirus infection with tixagevimab/cilgavimab in adult Moscow patients with primary immunodeficiencies

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    Background. Primary immunodeficiencies (PIDs), now known as inborn errors of immunity, are a group of inherited diseases caused by defects in the genes that control the immune response. Patients with PIDs have risks of developing a severe course and/or death in COVID-19. Passive immunization with long-acting monoclonal antibodies (MABs) to SARS-CoV-2 should be considered as pre-exposure prophylaxis in patients with PIDs. Tixagevimab/cilgavimab is a combination of MABs that bind to the SARS-CoV-2 spike protein. Aim. To evaluate the efficacy and safety of pre-exposure prophylaxis of new SARS-CoV-2 infection in PIDs with the combination of tixagevimab/cilgavimab. Materials and methods. Forty eight patients diagnosed with PIDs were included in the study. Median follow-up after drug administration was 174 days. The total number of confirmed coronavirus infections in patients with PIDs as well as 6 months before and after administration of MAT were assessed. Results. In the analyzed cohort, the overall incidence of COVID-19 from pandemic onset to MABs administration was 75% (36/48), with 31% (11/36) of over-infected patients having had the infection more than once. The incidence of COVID-19 immediately 6 months before the introduction of tixagevimab/cilgavimab was 40%. All patients who had COVID-19 after pre-exposure prophylaxis had a mild infection. The incidence of COVID-19 6 months after tixagevimab/cilgavimab administration significantly decreased compared to the incidence 6 months before administration (7 and 40%, respectively; p0.001). Conclusion. The use of tixagevimab/cilgavimab in patients with PIDs is effective as pre-exposure prophylaxis and reduces the risk of severe COVID-19

    Rapid selection of BRCA1-proficient tumor cells during neoadjuvant therapy for ovarian cancer in BRCA1 mutation carriers

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    Ovarian carcinomas (OC) often demonstrate rapid tumor shrinkage upon neoadjuvant chemotherapy (NACT). However, complete pathologic responses are very rare and the mechanisms underlying the emergence of residual tumor disease remain elusive. We hypothesized that the change of somatic BRCA1 status may contribute to this process. The loss-of-heterozygosity (LOH) at the BRCA1 locus was determined for 23 paired tumor samples obtained from BRCA1 germ-line mutation carriers before and after NACT. We observed a somatic loss of the wild-type BRCAI allele in 74% (17/23) of OCs before NACT. However, a retention of the wild-type BRCA1 copy resulting in a reversion of LOH status was detected in 65% (11/17) of those patients after NACT. Furthermore, we tested 3 of these reversion samples for LOH at intragenic BRCA1single nucleotide polymorphisms (SNPs) and confirmed a complete restoration of the SNP heterozygosity in all instances. The neoadjuvant chemotherapy for BRCA1-associated OC is accompanied by a rapid expansion of pre-existing BRCA1-proficient tumor clones suggesting that continuation of the same therapy after NACT and surgery may not be justified even in patients initially experiencing a rapid tumor regression. (C) 2017 Elsevier B.V. All rights reserved.Peer reviewe

    Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

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    Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical and immunological manifestations, questions about long-term disease evolution and response to therapy remain. The prospective European Society for Immunodeficiencies (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors, and evaluate treatment responses. So far, 77 patients have been recruited (51 APDS1, 26 APDS2). Analysis of disease evolution in the first 68 patients pinpoints the early occurrence of recurrent respiratory infections followed by chronic lymphoproliferation, gastrointestinal manifestations, and cytopenias. Although most manifestations occur by age 15, adult-onset and asymptomatic courses were documented. Bronchiectasis was observed in 24/40 APDS1 patients who received a CT-scan compared with 4/15 APDS2 patients. By age 20, half of the patients had received at least one immunosuppressant, but 2–3 lines of immunosuppressive therapy were not unusual before age 10. Response to rapamycin was rated by physician visual analog scale as good in 10, moderate in 9, and poor in 7. Lymphoproliferation showed the best response (8 complete, 11 partial, 6 no remission), while bowel inflammation (3 complete, 3 partial, 9 no remission) and cytopenia (3 complete, 2 partial, 9 no remission) responded less well. Hence, non-lymphoproliferative manifestations should be a key target for novel therapies. This report from the ESID-APDS registry provides comprehensive baseline documentation for a growing cohort that will be followed prospectively to establish prognostic factors and identify patients for treatment studies

    Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

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    IntroductionThe J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)-focused meetings were organized by the JP to raise awareness and facilitate the diagnosis and treatment of patients with IEI.ResultsIn this study, meeting profiles and major diagnostic and treatment parameters were studied. JP center leaders reported patients’ data from 30 countries representing a total population of 506 567 565. Two countries reported patients from JP centers (Konya, Turkey and Cairo University, Egypt). Diagnostic criteria were based on the 2020 update of classification by the IUIS Expert Committee on IEI. The number of JP meetings increased from 6 per year in 2004 and 2005 to 44 and 63 in 2020 and 2021, respectively. The cumulative number of meetings per country varied from 1 to 59 in various countries reflecting partly but not entirely the population of the respective countries. Altogether, 24,879 patients were reported giving an average prevalence of 4.9. Most of the patients had predominantly antibody deficiency (46,32%) followed by patients with combined immunodeficiencies (14.3%). The percentages of patients with bone marrow failure and phenocopies of IEI were less than 1 each. The number of patients was remarkably higher that those reported to the ESID Registry in 13 countries. Immunoglobulin (IgG) substitution was provided to 7,572 patients (5,693 intravenously) and 1,480 patients received hematopoietic stem cell therapy (HSCT). Searching for basic diagnostic parameters revealed the availability of immunochemistry and flow cytometry in 27 and 28 countries, respectively, and targeted gene sequencing and new generation sequencing was available in 21 and 18 countries. The number of IEI centers and experts in the field were 260 and 690, respectively. We found high correlation between the number of IEI centers and patients treated with intravenous IgG (IVIG) (correlation coefficient, cc, 0,916) and with those who were treated with HSCT (cc, 0,905). Similar correlation was found when the number of experts was compared with those treated with HSCT. However, the number of patients treated with subcutaneous Ig (SCIG) only slightly correlated with the number of experts (cc, 0,489) and no correlation was found between the number of centers and patients on SCIG (cc, 0,174).Conclusions1) this is the first study describing major diagnostic and treatment parameters of IEI care in countries of the JP; 2) the data suggest that the JP had tremendous impact on the development of IEI care in ECE; 3) our data help to define major future targets of JP activity in various countries; 4) we suggest that the number of IEI centers and IEI experts closely correlate to the most important treatment parameters; 5) we propose that specialist education among medical professionals plays pivotal role in increasing levels of diagnostics and adequate care of this vulnerable and still highly neglected patient population; 6) this study also provides the basis for further analysis of more specific aspects of IEI care including genetic diagnostics, disease specific prevalence, newborn screening and professional collaboration in JP countries

    Exploring Labor Integration Challenges for Ukrainians in Slovakia

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    Employment is vital for the integration of war-displaced Ukrainians in Slovakia, preventing welfare dependence and promoting self-realization. Around 6,000 Ukrainians, mainly women, reside in Košice. Qualitative research involving 26 respondents revealed common challenges. Involuntary migrants faced language barriers, limited job options, discrimination, and health issues. Voluntary migrants encountered labor market competition, bureaucracy, discrimination, and information gaps. Overcoming these challenges requires enhanced support services, a coordinated integration system, and awareness campaigns against discrimination and violence. The influx of Ukrainian migrants has highlighted existing employment issues in Košice affecting both migrants and locals

    Studying the Source Material for Yellow Melilot Selection

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    Creation of a system that ensures stable and complete feeding of farm animals is important for an effective development of animal husbandry in Stavropol Territory. Science established and practice confirmed that to organize healthy functioning of animals and their high productivity, it is necessary to have at least 105-110 g of digestible protein per feed unit. However, due to the current use of feed mainly consisting of cereals, there is a deficiency of protein, which is balanced by fodder grains. The lack of protein and its quality in feed has an extremely negative effect on the health of animals, reduces their productivity, impairs reproduction, disrupts metabolism and leads to overspending of feed, and, consequently, to an increase in the cost of livestock products. For the effective use of saline soils, which in the Stavropol Territory account for 24.8% of the total area, it is necessary to select field crops that give high yields of fodder rich in digestible protein, as well as to improve the structure of saline soils by enriching them with ecologically clean nitrogen that does not cause acidification. The legume crop of yellow melilot can become such a crop. Solving the problem of organic farming, it is necessary to expand the assortment of yellow melilot to create a solid fodder base, to use it as the best forecrop and break crop in grain crop rotations. Therefore, the study of some collection material of yellow melilot on leached black soils and the selection of promising samples is relevant for further selection work to create new varieties. A study of the seed material samples of yellow melilot from the VIR collection of different geographical origins was carried out according to the presence of hard seeds; samples with low and high content of them were established. The sowing qualities of yellow melilot collection samples were studied in laboratory conditions. The growth dynamics of the yellow melilot samples was studied, and decades of the maximum daily growth of yellow melilot were established. A high yield of yellow melilot samples in the first and second year of life was shown. The quantitative composition of main nutrients in the fodder mass of the yellow melilot samples of different geographical origins was established. For the conditions of the Stavropol Territory, it is necessary to select samples with economically valuable biological characteristics that can provide high rates of linear growth of green mass before the onset of summer drought

    Алгоритм формування та вибору інформативних ознак в базі даних кореляційно-екстремальних навігаційних систем

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    Hierarchical approach to data fusion in complex navigation system is proposed. Low level of data processing in correlation extreme navigation system includes forming and selecting the most infor- mative relevant features. Advanced algorithm is therefore developed based on weighting correlation sampling of template features. Practical efficiency of algorithm is researched based on Speed-Up Robust Feature method of feature points detection and description. Minimization of feature points number in template without decreasing the quality of matching is observed along with reduction of computational costs.Запропоновано ієрархічний підхід до сумісної обробки даних комплексної навігаційної системи. Нижній рівень обробки даних в кореляційно-екстремальній навігаційній системі включає формування та відбір найбільш інформативних ознак, таким чином розроблено розширений алгоритм на основі зваженої кореляції та вибірки ознак з еталону. Практичну ефективність алгоритму досліджено на основі використання методу виявлення характерних точкових ознак Speed-Up Robust Feature та використання його дискрипторa. Спостерігалась мінімізація кількості особливих точок в еталоні без зниження якості співставлення нарівні зі зменшенням обчислювальних витрат

    Алгоритм формування та вибору інформативних ознак в базі даних кореляційно-екстремальних навігаційних систем

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    Hierarchical approach to data fusion in complex navigation system is proposed. Low level of data processing in correlation extreme navigation system includes forming and selecting the most infor- mative relevant features. Advanced algorithm is therefore developed based on weighting correlation sampling of template features. Practical efficiency of algorithm is researched based on Speed-Up Robust Feature method of feature points detection and description. Minimization of feature points number in template without decreasing the quality of matching is observed along with reduction of computational costs.Запропоновано ієрархічний підхід до сумісної обробки даних комплексної навігаційної системи. Нижній рівень обробки даних в кореляційно-екстремальній навігаційній системі включає формування та відбір найбільш інформативних ознак, таким чином розроблено розширений алгоритм на основі зваженої кореляції та вибірки ознак з еталону. Практичну ефективність алгоритму досліджено на основі використання методу виявлення характерних точкових ознак Speed-Up Robust Feature та використання його дискрипторa. Спостерігалась мінімізація кількості особливих точок в еталоні без зниження якості співставлення нарівні зі зменшенням обчислювальних витрат

    Genetic and Clinical Features of Shwachman-Diamond Syndrome in Russian Population: Prospective Study

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    Background. Shwachman-Diamond syndrome (SDS) is the rare genetic autosomal recessive disorder with pathogenic variants in SBDS gene. The spectrum of SBDS gene variants in patients with SDS and features of disease course have not been studied before in Russian population.Objective. The aim of the study was to describe all the variants of SBDS gene and clinical and laboratory abnormalities in children with SDS. Methods. In this prospective study exocrine pancreatic function was estimated by amylase and lipase activity in blood, steatorrhea presence and stool elastase levels during the initial hospitalization. Haematological disorders were analysed by complete blood count. Bone abnormalities were diagnosed via X-ray imaging. Growth delay was established due to anthropometry indicators and percentile curves. Molecular genetic testing was performed with using next generation sequencing and Senger sequencing.Results. Pathogenic variants in SBDS gene (8 in general) were revealed in 25 (89%) out of 28 children with SDS. The most common variant (in 23 patients, 82%) was с.258+2T>C, and in 18 cases it was in compound heterozygous state with c.183_184delTAinsCT. Two patients had с.653G>A (p.Arg218Gln) variant and for one patient for every of the following variants: c.258+1G>A, c.107delT, с.356G>A, c.297_300delAAGA, c.338C>T. All children with SDS had growth delay, in 11 (39%) cases we revealed bone abnormalities. In blood samples of 24 (86%) children we revealed neutropenia and less frequently anemia and thrombocytopenia. The stool elastase I decreased activity (< 200 pg/g) was revealed in 26 (92%) patients. 21 (75%) children had cytolysis syndrome.Conclusion. Pathogenic variants of SBDS gene were revealed in majority of Russian children with SDS. The most frequent are c.258+2T>C and c.183_184delTAinsCT variants. Clinical signs of Shwachman-Diamond syndrome manifest since birth with growth delay, steatorrhea and haematological disorders
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