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In a 56-day experiment, the effects of selenium-enriched yeast (SeY) on the growth, enzymatic activity of the gastrointestinal tract, oxidative stress parameters, and selected immunological parameters of sterlet, Acipenser ruthenus (L.), were analyzed. The concentration of selenomethionine (SeMet) from SeY in the feed was 0 mg kg−1 (C), 0.7 mg kg−1 feed (S1), 1.4 mg kg−1 feed (S2), and 2.1 mg kg−1 feed (S3). Statistically significant differences were found in the final fish body weight between the control and groups S1 and S3. A significant increase in lipase activity was found in the initial section of the small intestine of fish from group S3. The highest activity of the antioxidant enzymes glutathione peroxidase and superoxide dismutase was recorded in the liver of fish from group S2. Analyses of non-specific humoral response parameters showed an increase in ceruloplasmin activity in group S1. The lowest active dose of SeMet derived from yeast tested in this study that stimulated humoral immunity and fish growth was 0.7 mg kg−1 feed (S1).

Abstract CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functions of the complement pathway modulate neural development and synaptic activity. While a genetic risk factor for neuropsychiatric disorders, the role of CSMD1 in neurodevelopmental disorders is unclear. Through international variant sharing, we identified inherited biallelic CSMD1 variants in eight individuals from six families of diverse ancestry who present with global developmental delay, intellectual disability, microcephaly, and polymicrogyria. We modeled CSMD1 loss-of-function (LOF) pathogenesis in early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells (hESCs). We show that CSMD1 is necessary for neuroepithelial cytoarchitecture and synchronous differentiation. In summary, we identified a critical role for CSMD1 in brain development and biallelic CSMD1 variants as the molecular basis of a previously undefined neurodevelopmental disorder.

EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component of the elastic fiber network and localizes to the interface between the fibrillin microfibril scaffold and the elastin core. How EMILIN1 contributes to connective tissue integrity is not fully understood. Here, we report bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, resembling autosomal-recessive cutis laxa type 1B, due to EFEMP2 (FBLN4) deficiency. In both humans and mice, absence of EMILIN1 impairs EFEMP2 extracellular matrix deposition and LOX activity resulting in impaired elastogenesis, reduced collagen crosslinking, and aberrant growth factor signaling. Collagen fiber ultrastructure and histopathology in EMILIN1- or EFEMP2-deficient skin and aorta corroborate these findings and murine Emilin1-/- femora show abnormal trabecular bone formation and strength. Altogether, EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis.

Pharmacists have been identified in the health care system as a professional group that should be responsible for the safety of pharmacotherapy, including pharmacotherapy recommended by the physician, as well as pharmacotherapy based on consultation with a pharmacist. Pharmacists play an important role in supervising patients' self-medication, including decisions related to the treatment of minor ailments. In Polish community pharmacies, pharmaceutical consulting is one of the essential services provided by professional staff. Decisions on drug selection during a pharmaceutical consultation should be based on available guidelines and recommendations regarding therapeutic procedures for specific diseases. Reflux disease (GERD) and peptic ulcer disease affect 20-40% of the population in highly developed countries. It is estimated that in Poland, up to 34% of adults have symptoms of this disease, of which about 10% go to a specialist when complications have already developed. Reflux disease treatment is based on using proton pump inhibitors (PPIs) or histamine H2 antagonists (AH2). Research conducted around the world after the introduction of PPIs for over-the-counter sales indicated an increase in the sale of these products and their inappropriate use. In Poland, PPIs constitute a significant part of pharmacies' sales, obliging pharmacists to supervise their correct use. This obligation may be facilitated by developing algorithms for dealing with various situations related to dispensing PPIs in a pharmacy. This article aims to present the rules for dispensing PPIs without a prescription for a patient reporting heartburn symptoms. The procedure includes verifying indications for use, selecting the drug and providing detailed information regarding its use. The algorithm can support the pharmacist in rationalising and facilitating correct procedures. The pharmacist should also prepare and present recommendations to the patient based on appropriate documents and guidelines. The algorithm may be an inspiration to prepare other tools to support work and improve the quality of pharmaceutical consulting provided in generally available pharmacies.

The main objective of the “DPDT-Auger” research project was to test the prototype DPDT auger for forming screw displacement piles in the ground (patented in Poland in 2020). An additional aim was to develop design methods and rules for the making of such piles. The augers and piles were first tested on a model scale, and then more extensively in the real scale on experimental field plots. The results found the overall functionality of the DPDT auger to be good, and in several aspects better than that of the SDP auger. The load-bearing capacities and Q-s characteristics of piles made with both augers were considered comparable. All the conducted tests and their derived dependencies together with the results of in situ subsoil tests allowed for the development of empirical calculation methods and prognostic procedures, useful for designing and producing piles with DPDT and SDP augers. FEM numerical simulation rules for the considered piles were also developed, verified and calibrated by the results of real pile tests. This article describes only the most important final results of the research project but not the detailed results of the numerous tests and analyses that were carried out. Also omitted are the results of model tests and numerical simulations, as well as the implementation and acceptance recommendations, as they have already been or will be the subject of separate publications.

One approach employed in brain–computer interfaces (BCIs) involves the use of steady-state visual evoked potentials (SSVEPs). This article examines the capability of artificial intelligence, specifically convolutional neural networks (CNNs), to improve SSVEP detection in BCIs. Implementing CNNs for this task does not require specialized knowledge. The subsequent layers of the CNN extract valuable features and perform classification. Nevertheless, a significant number of training examples are typically required, which can pose challenges in the practical application of BCI. This article examines the possibility of using a CNN in combination with data augmentation to address the issue of a limited training dataset. The data augmentation method that we applied is based on the spectral analysis of the electroencephalographic signals (EEG). Initially, we constructed the spectral representation of the EEG signals. Subsequently, we generated new signals by applying random amplitude and phase variations, along with the addition of noise characterized by specific parameters. The method was tested on a set of real EEG signals containing SSVEPs, which were recorded during stimulation by light-emitting diodes (LEDs) at frequencies of 5, 6, 7, and 8 Hz. We compared the classification accuracy and information transfer rate (ITR) across various machine learning approaches using both real training data and data generated with our augmentation method. Our proposed augmentation method combined with a convolutional neural network achieved a high classification accuracy of 0.72. In contrast, the linear discriminant analysis (LDA) method resulted in an accuracy of 0.59, while the canonical correlation analysis (CCA) method yielded 0.57. Additionally, the proposed approach facilitates the training of CNNs to perform more effectively in the presence of various EEG artifacts.

Occurrence of the so-called residual force of an unknown value significantly disturbs interpretation of static load tests performed on piles equipped with additional measuring instruments. Screw displacement piles are the piling technology in which the residual force phenomenon is very common. Its formation mechanism is closely related to the installation method of this type of piles, which initiates generation of negative pile skin friction without any additional external factors. Knowledge of the value and distribution of a residual force (trapped in a pile shaft before starting the load test) is a necessary condition for the proper interpretation of instrumented pile test results.

Summary: Organisms can rapidly mitigate the effects of environmental changes by changing their phenotypes, known as phenotypic plasticity. Yet, little is known about the temperature-mediated plasticity of traits that are directly linked to plant fitness such as flower size. We discovered substantial genetic variation in flower size plasticity to temperature both among selfing Arabidopsis thaliana and outcrossing A. arenosa individuals collected from a natural growth habitat. Genetic analysis using a panel of 290 A. thaliana accession and mutant lines revealed that MADS AFFECTING FLOWERING (MAF) 2–5 gene cluster, previously shown to regulate temperature-mediated flowering time, was associated to the flower size plasticity to temperature. Furthermore, our findings pointed that the control of plasticity differs from control of the trait itself. Altogether, our study advances the understanding of genetic and molecular factors underlying plasticity on fundamental fitness traits, such as flower size, in response to future climate scenarios.

This 56-day experiment examined the effect of actinidin added to commercial feed at concentrations of 0 g (control group C), 10 g (A1 group) and 20 g (A2 group) kg−1 diet on growth, feed utilization, intestinal morphology, digestive enzyme and immune response of juvenile sterlet (Acipenser ruthenus). A total of 270 juvenile sterlet with an average body weight of (46.21 ± 0.37 g) were divided into nine tanks (280 L for each), with 30 fish per tank (three replicates each) under a recirculating aquaculture system (RAS). At the end of the experiment, distinct differences in the mean body weights of the fish were observed, with the greatest differences (P

BackgroundPrimary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions.ObjectiveWe sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.MethodsPatients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping.ResultsA likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays.ConclusionThis high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

Juvenile sterlet (Acipenser ruthenus) were fed commercial feed (group C) and experimental feed supplemented with papain in doses of 10 g kg−1 feed (P1) and 20 g kg−1 feed (P2) for eight weeks. Growth, digestive enzyme activity, immunity parameters, pathological changes of the liver and intestine, proximate body composition, and oxidative response were assayed. A challenge test with Yersinia ruckeri was also performed. The final body weights of groups P1 (107.07 ± 7.66 g) and P2 (111.98 ± 1.93 g) were significantly (P

Two new unsymmetrical N-heterocyclic carbene ligand (uNHC)-based ruthenium complexes featuring phenolic OH function were obtained and fully characterised. The more active one was then immobilised on the metal–organic framework (MOF) solid support (Al)MIL-101-NH2. The catalytic activity of such a heterogeneous system was tested, showing that, while the heterogeneous catalyst is less active than the corresponding homogeneous catalyst in solution, it can catalyse selected olefin metathesis reactions, serving as the proof-of-concept for the immobilisation of catalytically active complexes in MOFs using a phenolic tag.

INTRODUCTION: National Firefighting Rescue System (NFRS) often supports the Emergency Medical Service (EMS) units. If EMS is not yet at the scene, firefighters are able to perform necessary medical procedures while waiting for an ambulance. The aim of the study was to define the profile of patients based on experience of Polish Professional Fire Services (PFS). MATERIAL AND METHODS: 123 interventions were studied when firefighters arrived on the scene before ems, carried out in 2017 by PFS unit located in centre of Poland. For this retrospective study were analyzed a total of 100 complete and readable "rescue procedure charts" filled out by PFS firefighters. They were studied time of arrival, patients' demographic (age and sex), type of injury/ illness, type of medical procedures carried out by firefighters and duration of taking care of the patient before EMS arrival as well as types of equipment used during interventions. RESULTS: A total of 100 patients were included in the analysis (34 woman and 66 men). The mean age was 40.3 years (SD ± 16.56). The average time from arrival at the scene to initiation of medical procedures was 1.24 (SD ± 0.47) minutes. Before EMS arrival, firefighters were taking care of the patient for an average of 5.88 (SD ± 4.45) minutes. The most common type of injury was cervical spine trauma (41.34%), and the rarest condition was a hypothermia (19.23%). Cardiopulmonary resuscitation were performed in four cases. The most commonly used equipment were gloves (67.60%). The most common activity during taking care of patient were: psychological support (34.33%). CONCLUSIONS: During the interventions, firefighters perform rescue procedures mainly in case of injuries. The most common types of injuries include cervical spine and head trauma. Despite the fact that medical equipment is standardized in PFS units, some of the equipment are not used as often as the situations requires, which may result in a decrease in the effectiveness of rescue procedures.

Meeting the increasing demand for energy storage based on lithium-ion batteries (LIB) is not only a question of resource availability but also an issue of resource conservation and efficient recycling management. In this respect, sustainable recycling concepts play a central role in mindful interactions with valuable materials. Based on this approach, a process interconnection of hydromechanical preparation, flotation, and pyrometallurgical treatment was investigated. The hydromechanical preparation showed promising results in achieving highly pure mixtures of LIB-active material. It was found that a pre-opening step could achieve an even better separation of impurities for downstream processes such as Cu and Al to avoid excessive particle size reduction. According to an optimized mixing stage during flotation, the C amount was reduced from 33 wt.% to 19.23 wt.%. A Li-free metal alloy was obtained through the subsequent pyrometallurgical treatment, and evidence for Li removal via the gas phase was provided. Furthermore, heating microscope trials confirmed the results of the process interconnection and showed that further optimization steps for the pre-treatment are necessary for favorable product quality. Therefore, a high-stratification plot was created, which allows a quick future statement about the suitability of the input material for use in the process.

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼ 45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies. Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, confirmed in a second ethnically discrete neuropathy cohort, suggesting that mutation burden potentially contributes to phenotypic variability. Neuropathy genes shown to have highly penetrant Mendelizing variants (HPMVs) and implicated by burden in families were shown to interact genetically in a zebrafish assay exacerbating the phenotype established by the suppression of single genes. Our findings suggest that the combinatorial effect of rare variants contributes to disease burden and variable expressivity.

Unbiased genetic studies have uncovered surprising molecular mechanisms in human cellular immunity and autoimmunity. We performed whole-exome sequencing and targeted sequencing in five families with an apparent mendelian syndrome of autoimmunity characterized by high-titer autoantibodies, inflammatory arthritis and interstitial lung disease. We identified four unique deleterious variants in the COPA gene (encoding coatomer subunit α) affecting the same functional domain. Hypothesizing that mutant COPA leads to defective intracellular transport via coat protein complex I (COPI), we show that COPA variants impair binding to proteins targeted for retrograde Golgi-to-ER transport. Additionally, expression of mutant COPA results in ER stress and the upregulation of cytokines priming for a T helper type 17 (TH17) response. Patient-derived CD4(+) T cells also demonstrate significant skewing toward a TH17 phenotype that is implicated in autoimmunity. Our findings uncover an unexpected molecular link between a vesicular transport protein and a syndrome of autoimmunity manifested by lung and joint disease.

With an ever-growing demand for critical raw materials for the production of lithium-ion batteries and a price increase of respective commodities, an ever louder call from the industry for efficient recycling technologies can be noticed. So far, state-of-the-art industry-scaled pyrometallurgical recycling technologies all suffer from the same bottleneck of lithium slagging. At the Chair of Thermal Processing Technology at Montanuniversitaet Leoben, a novel reactor was developed to recover lithium and phosphorus via the gas phase in a pyrometallurgical process. Critical elements such as Li, Ni, Co, and Mn of the commercially used cathode materials LCO (LiCoO2), LFP (LiFePO4), NCA (LiNi0.8Co0.15Al0.05O2), and NMC622 (LiNi0.6Mn0.2Co0.2) were analyzed in a batch version of the so-called InduRed reactor concept. The analyses underline that the reactor concept is highly suitable for an efficient recovery for the metals Ni and Co and that slagging of Li can not only be largely prohibited, but the elements lithium and phosphorous can even be recovered from the gas phase. Plant engineering issues were also considered for further development toward a continuous process. The MgO crucible used shows significant diffusion of various elements from the battery material, which is why the choice of crucible material still requires in-depth research.

This paper presents the design and research results of a claw pole machine with hybrid excitation. This machine is excited by permanent magnets and an electromagnetic coil. Both excitation sources are located in the rotor of the machine. Additionally, the rotor is made of a laminated core. This approach facilitates the process of its construction and enables the implementation of even very complicated structure of the rotor, which would be difficult in case of making the rotor from a one piece of material. This paper presents the construction as well as the results of simulation and experimental tests of the machine prototype. The tests showed that the proposed machine has the ability to adjust the voltage in a wide range. Such as a feature could be used, for example, to increase the speed of motor operation in case of an electric vehicle application, but also to regulate the voltage in wind turbines which generators operate at varying rotor speeds resulting from changing wind speed.

Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously reported. We report the case history of a 27 year old female CGL1 patient presenting with an unusual additional development of non-diabetic peripheral neuropathy and learning disabilities in early adolescence. Whole exome sequencing (WES) of the patient genome identified a novel variant, homozygous for a 52 bp intronic deletion in the AGPAT2 locus, coding for 1-acylglycerol-3-phosphate O-acyltransferase 2, which is uniquely associated with CGL1 seipinopathies, with no molecular evidence for dual diagnosis. Functional studies using RNA isolated from patient peripheral blood leucocytes showed abnormal RNA splicing resulting in the loss of 25 amino acids from the patient AGPAT2 protein coding sequence. Stability and transcription levels for the misspliced AGPAT2 mRNA in our patient nonetheless remained normal. Any AGPAT2 protein produced in our patient is therefore likely to be dysfunctional. However, formal linkage of this deletion to the neuropathy observed remains to be shown. The classical clinical presentation of a patient with AGPAT2-associated lipodystrophy shows normal cognition and no development of polyneuropathy. Cognitive disabilities and polyneuropathy are features associated exclusively with clinical CGL type 2 arising from seipin (BSCL2) gene mutations. This case study suggests that in some genetic contexts, AGPAT2 mutations can also produce phenotypes with primary polyneuropathy.