The molecular profile in patients with polycythemia vera and essential thrombocythemia is dynamic and correlates with disease’s phenotype

IntroductionPolycythemia vera (PV) and essential thrombocythemia (ET) are diseases driven by canonical mutations in JAK2, CALR, or MPL gene. Previous studies revealed that in addition to driver mutations, patients with PV and ET can harbor other mutations in various genes, with no established impact on disease phenotype. We hypothesized that the molecular profile of patients with PV and ET is dynamic throughout the disease.MethodsIn this study, we performed a 37-gene targeted next-generation sequencing panel on the DNA samples collected from 49 study participants in two-time points, separated by 78-141 months. We identified 78 variants across 37 analyzed genes in the study population.ResultsBy analyzing the change in variant allele frequencies and revealing the acquisition of new mutations during the disease, we confirmed the dynamic nature of the molecular profile of patients with PV and ET. We found connections between specific variants with the development of secondary myelofibrosis, thrombotic events, and response to treatment. We confronted our results with existing conventional and mutation-enhanced prognostic systems, showing the limited utility of available prognostic tools.DiscussionThe results of this study underline the significance of repeated molecular testing in patients with PV and ET and indicate the need for further research within this field to better understand the disease and improve available prognostic tools

In memoriam – wspomnienia pracowników Zakładu Pedagogiki Specjalnej o Profesorze Władysławie Dykciku

nie ma abstrakt

Nutrition Strategies for Optimizing Performance and Health in Young Athletes

Introduction: The increasing participation of young individuals in sports necessitates a comprehensive understanding of the intricate relationship between nutrition and athletic performance during the critical adolescent years. This introduction sets the stage for an exploration of the dynamic nutritional needs of young athletes, emphasizing the pivotal role of nutrition in supporting growth, energy metabolism, and overall athletic achievement. Current State of Knowledge: The current state of knowledge encompasses an in-depth analysis of key nutritional considerations for young athletes. Examining energy and macronutrient requirements, micronutrient considerations, hydration strategies, and optimal timing of nutrition, this section synthesizes existing research to provide evidence-based guidelines. Furthermore, it addresses the unique challenges posed by different sports and the importance of tailored nutritional approaches for diverse athletic endeavors. The evolving landscape of sports nutrition is also explored, with a specific focus on the benefits and potential risks associated with protein and creatine supplementation. Summary: In summary, this article serves as a comprehensive resource for athletes, coaches, and parents seeking to navigate the intricate intersection of nutrition and young athletes. By elucidating evidence-based strategies and addressing the potential drawbacks and risks associated with certain supplements, the article aims to empower stakeholders with the knowledge needed to make informed decisions regarding the nutritional well-being of young athletes. It underscores the importance of individualized approaches, recognizing the diversity of young athletes and advocating for adaptable nutritional strategies that contribute to both immediate performance gains and sustained health and athletic success

Zarządzanie i handel zagraniczny w małych i średnich przedsiębiorstwach w warunkach integracji europejskiej: materiały z konferencji

Z przedmowy: "Integracja europejska to proces łączenia, scalania się odrębnych ekonomicznie, społecznie, kulturowo gospodarek europejskich krajów. Proces integracji prowadzi do istotnych przekształceń w sferze gospodarki, strategiach organizacji i funkcjonowania przedsiębiorstw, handlu międzynarodowym, działalności marketingowej, strukturach organizacyjnych i mechanizmach ekonomicznych przedsiębiorstw i instytucji działających w krajach integrujących się. Proces integracji to w praktyce proces dostosowywania się struktur gospodarczych; tworzenia związków kooperacyjno-produkcyjnych; powstawania trwałych więzi ekonomicznych między przedsiębiorstwami integrujących się krajów a więc proces kształtowania jednolitego obszaru gospodarczego z odrębnych a często także wzajemnie konkurencyjnych krajów, gospodarek, regionów, gałęzi, branż. Proces międzynarodowej integracji gospodarczej to w dużej mierze proces tworzenia komplementamości przedsiębiorstw i instytucji, komplementamości międzygałęziowej i wewnątrz gałęziowej, w produkcji i wymianie jak też kształtowanie niezbędnej infrastruktury technicznej i ekonomicznej umożliwiającej tworzenie sytemu trwałych powiązań gospodarczych między poszczególnymi krajami."(...

The cyberspace hazard and the safety unit

Dynamiczny rozwój technologii teleinformatycznych przyczynił się do powstania nowego pola aktywności, jakim jest cyberprzestrzeń. Jest to jedna z najważniejszych zmian w środowisku bezpieczeństwa, niosąca zupełnie nowe zagrożenia, a przez to wymagająca nowych uregulowań, zabezpieczeń i informacji celem zapewnienia bezpieczeństwa państwa, instytucji i osób korzystających z cyberprzestrzeni. W dobie globalizacji cyberprzestrzeń, która nie zna granic może być polem konfliktu wrogich państw, zorganizowanych grup przestępczych, ekstremistycznych, terrorystycznych, hakerów, oszustów, a nawet pedofilów. Jak widać stawka może być bardzo wysoka, od bezpieczeństwa infrastruktury krytycznej, poprzez wyniki finansowe przedsiębiorstw, szeroko rozumiane bezpieczeństwo obywateli, a nawet dzieci.The dynamic development of Information and Communications Technology (ICT) contributed to the emergence of a new field of activity; that is cyberspace. It is one of the most important changes in the safety environment that carries a completely new security threat and, therefore, requires new regulations, protection and information to assure security of the institutions and people who use cyberspace. In the era of globalisation, cyberspace does not have any barriers, which can lead to many conflicts between hostile states, gangs, terrorists, extremist groups, hackers, the frauds or even paedophiles. Thus, as one can see, the stakes are high when it comes to securing critical infrastructure or financial companies’ results as well as citizens’ safety, including children

Significance of the PIK3CA mutations in the differential diagnosis of ovarian epithelial carcinoma

Background: Ovarian carcinoma, one of the most common gynecological malignancies in Central and Eastern Europe, is characterized by a clinical and genetic heterogeneity with a distinct molecular signature for each histologic subtype. Material and methods: Here, we established the frequency of the PIK3CA mutations and amplifications in 100 FFPE tissues with the initial diagnosis of serous ovarian carcinoma. Accordingly, the diagnostic value of combining morphology with genetic and immunohistochemical testing was estimated in this cohort. Results: The PIK3CA mutations and amplifications were found in 4.1% (4/97) and 7.2% (7/97) of samples, respectively with a higher prevalence in low-grade tumors (p=0.0121). All identified variants were classified as pathogenic missense mutations, located within the PIK3CA mutational hotspots. In the light of the molecular and immunohistochemical results, two tumors with the somatic PIK3CA mutations and strongly positive expression for PI3K and hNF1β were eventually re-classified from serous to clear cell carcinomas after pathological re-evaluation. Conclusions: These findings demonstrate that the PIK3CA mutational screening facilitated establishing an accurate diagnosis of ovarian carcinomas and, more importantly, might allow for personalized treatment optimization. As the PIK3CA mutations result in the PI3K/AKT pathway deregulation, the individuals with the somatic PIK3CA variants may be eligible for personalized targeted therapies with PI3K inhibitors

High-Temperature Corrosion of Flame-Sprayed Power Boiler Components with Nickel Alloy Powders

The development trends in the energy sector clearly indicate an increase in the share of biomass and alternative fuels fed for combustion in power boilers, which results in the imposition of many unfavourable factors and a demanding working environment. During the operation of the energy system, this means a sharp increase in corrosion of the gas-tight pipe walls and coils by the destructive action of chlorine and sulphur. Implementing advanced surface protection in addition to the selection of materials of better quality and resistance to difficult working conditions would significantly reduce their wear by high temperature corrosion. Thermally sprayed coatings offer a great opportunity to protect machine components and energy systems against corrosion, erosion, impact load and abrasive wear. This article presents the test results of high-temperature corrosion resistance of coatings made with Ni-Cr-B-Si and Ni-B-Si alloy powders on a boiler steel substrate. Samples with sprayed coatings were exposed to an atmosphere with a composition of N2 + 9% O2 + 0.08% SO2 + 0.15% HCl at 800 °C for 250, 500, 750 and 1000 h. Tests results of coatings made of Ni-Cr-B-Si alloys subjected to the influence of a corrosive environment showed the formation of a layer of scale on the surface, composed mainly of Cr2O3 oxide, which was a passive layer, reducing the rate of corrosion. Coatings sprayed with Ni-B-Si alloys showed significantly lower corrosion resistance. It was found that the developed technology of subsonic flame spraying with powders of the Ni-Cr-B-Si type allows the production of coatings compliant with the requirements of the energy industry, which allows their use as anti-corrosion protection on boiler elements intended for waste disposal and biomass combustion

Synergy between the alteration in the N-terminal region of butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer’s disease

Abstract While the life expectancy of the population has increased, Alzheimer’s disease (AD) has emerged as one of the greatest health problems of old age. AD is characterized by neuronal loss and cognitive decline. In the AD brain, there is a decrease in levels of acetylcholinesterase (AChE) and an increase in the levels of the related enzyme butyrylcholinesterase (BChE), that accumulate in plaques and tangles. Apolipoprotein E (ApoE) is a major cholesterol carrier and plays an important role in maintaining lipid homeostasis. APOE-ε4 constitutes the most important known genetic risk factor for late-onset AD. It has been proposed that the BCHE-K allele (Ala539Thr) acts in synergy with the APOE-ε4 allele to promote risk for AD. However, there is insufficient evidence to support a correlation. Most studies focused only on the coding regions of the genes. In this study, we analyzed sequence regions beyond the BCHE coding sequence. We found synergy between APOE-ε4 and SNPs localized in 5′UTR (rs1126680) and in intron 2 (rs55781031) of the BCHE-K allele (rs1803274) in 18% of patients with late-onset AD (n = 55). The results show that the coexistence of the APOE-ε4 allele and 3 SNPs in the BCHE gene is associated with a highly elevated risk of late-onset AD. SNP (rs1126680) in 5′UTR of the BCHE gene is located 32 nucleotides upstream of the 28 amino acid signal peptide. Mass spectrometry analysis of the BChE protein produced by SNP (rs1126680) showed that the mutation caused an in frame N-terminal extension of 41 amino acids of the BChE signal peptide. The resultant variant with a 69 amino acid signal peptide, designated N-BChE, may play a role in development of AD