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Tumble drying of textiles is associated with mechanical and thermal stress, which leads to textile damage and shedding of fibers. In this study, fiber shedding from cotton textiles is investigated by evaluating the mass of fibers accumulated on different filters positioned downstream of the tumble dryer drum. The total mass of fibers at the end of drying was positively correlated with the dry mass of the loaded textiles. By observing the time-dependent accumulation of fibers on a high-performance filter, three different phases of fiber shedding could be identified. In the first phase, which lasted up to a textile moisture content of about 35%, only minimal fiber accumulation was detected. The following phase lasted almost until the end of drying and showed the highest fiber accumulation rates. In the last phase, the rate of fiber accumulation decreased. The experiments also showed that longer tumbling of textiles with a lower moisture content led to a greater total mass of accumulated fibers. To reduce fiber shedding, damage to the textiles and the resulting pollution, it is recommended to reduce the mechanical loading of textiles, especially in the final stages of the drying process.

Abstract Objectives Current recommendations support surgical treatment of atrial fibrillation (AF) in patients indicated for cardiac surgery. These procedures are referred to as concomitant and may be carried out using radiofrequency energy or cryo-ablation. This study aimed to assess the electrophysiological findings in patients undergoing concomitant cryo-ablation. Methods Patients with non-paroxysmal AF undergoing coronary artery bypass grafting and/or valve repair/replacement were included in the trial if concomitant cryo-ablation was part of the treatment plan according to current guidelines. The patients reported in this study were assigned to undergo staged percutaneous radiofrequency catheter ablation (PRFCA), i.e., hybrid treatment, as a part of the SURHYB trial protocol. Results We analyzed 103 patients who underwent PRFCA 105 ± 35 days after surgery. Left and right pulmonary veins (PVs) were found isolated in 65 (63.1%) and 63 (61.2%) patients, respectively. The LA posterior wall isolation and mitral isthmus conduction block were found in 38 (36.9%) and 18 (20.0%) patients, respectively. Electrical reconnections (gaps) in the left PVs were more often localized superiorly than inferiorly (57.9% vs. 26.3%, P = 0.005) and anteriorly than posteriorly (65.8% vs. 31.6%, P = 0.003). Gaps in the right PVs were more equally distributed anteroposteriorly but dominated in superior segments (72.5% vs. 40.0%, P = 0.003). There was a higher number of gaps on the roof line compared to the inferior line (131 (67.2%) vs. 67 (42.2%), P

Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative mode of action, wherein an increased level of AFF3 resulted in pathological effects. Methods Evolutionary constraints suggest that other modes-of-inheritance could be at play. We challenged this hypothesis by screening ID cohorts for individuals with predicted-to-be damaging variants in AFF3. We used both animal and cellular models to assess the deleteriousness of the identified variants. Results We identified an individual with a KINSSHIP-like phenotype carrying a de novo partial duplication of AFF3 further strengthening the hypothesis that an increased level of AFF3 is pathological. We also detected seventeen individuals displaying a milder syndrome with either heterozygous Loss-of-Function (LoF) or biallelic missense variants in AFF3. Consistent with semi-dominance, we discovered three patients with homozygous LoF and one compound heterozygote for a LoF and a missense variant, who presented more severe phenotypes than their heterozygous parents. Matching zebrafish knockdowns exhibit neurological defects that could be rescued by expressing human AFF3 mRNA, confirming their association with the ablation of aff3. Conversely, some of the human AFF3 mRNAs carrying missense variants identified in affected individuals did not rescue these phenotypes. Overexpression of mutated AFF3 mRNAs in zebrafish embryos produced a significant increase of abnormal larvae compared to wild-type overexpression further demonstrating deleteriousness. To further assess the effect of AFF3 variation, we profiled the transcriptome of fibroblasts from affected individuals and engineered isogenic cells harboring + / + , KINSSHIP/KINSSHIP, LoF/ + , LoF/LoF or KINSSHIP/LoF AFF3 genotypes. The expression of more than a third of the AFF3 bound loci is modified in either the KINSSHIP/KINSSHIP or the LoF/LoF lines. While the same pathways are affected, only about one third of the differentially expressed genes are common to the homozygote datasets, indicating that AFF3 LoF and KINSSHIP variants largely modulate transcriptomes differently, e.g. the DNA repair pathway displayed opposite modulation. Conclusions Our results and the high pleiotropy shown by variation at this locus suggest that minute changes in AFF3 function are deleterious.

BackgroundCongenital erythrocytosis (CE) is increasingly recognized as the cause of erythrocytosis in patients in whom polycythemia vera and secondary acquired causes have been excluded. The aim of our study was to determine possible genetic background in patients with idiopathic erythrocytosis.Methods40 patients with idiopathic erythrocytosis, referred to our institution in a 5-year period, were analyzed. We collected data on erythropoietin (Epo) levels, hemoglobin (Hgb), hematocrit (Hct), erythrocyte count, age, gender, past thrombotic events, concomitant diseases, and smoking status. CE was tested using next-generation sequencing (NGS), in the majority of patients also measurement of P50 and Hgb electrophoresis were performed. Patients with signs of iron overload were tested for genetic variants in the HFE gene.ResultsThe median patient age at analysis was 46.5 years (range 22–73), with 37 out of 40 being males (93 %). The median Hgb, Hct and red blood cells count were 180 g/L, 0.51, 5.985 x 1012/L in men and 171 g/L, 0.50 and 5.68 x 1012/L in women, respectively. Epo levels were decreased in three, increased in one patient and within the normal range in the rest (median 7.55 mIU/mL; range 2.90–19.50). Eight patients (20 %) smoked. 32 (80 %) were treated with low-dose aspirin, and 20 (50 %) underwent at least one phlebotomy. Thromboembolic events were recorded in 2 patients (5 %). P50 was measured in 20 out of 40 patients, and it was above 24 mm Hg (3.12 kPa) in all of them. Hemoglobin electrophoresis was performed in 73 % of patients, with no abnormal Hgb detected. Variants in the HFE gene were found in 8 out of 40 patients (20 %), but in only one patient the results were associated with an increased risk for hemochromatosis. Although no pathogenic variants for CE were detected by NGS, two variants of uncertain significance, namely EGLN1 (NM_022051.2):c.1072C>T (p.(Pro358Ser)) and EGLN1 (NM_022051.2):c.1124A>G (p.(Glu375Gly)) were identified as strong etiologic candidates.ConclusionCE is an extremely rare condition. Genetic testing is advised in young individuals with a long-standing persistent erythrocytosis, possibly with a family history and after exclusion of more frequent secondary causes and polycytemia vera.

The use of polymers for water storage or distribution is closely monitored, especially with regard to the possible contamination with substances coming from the material's surfaces. Different standards are practiced across countries according to type of applied materials and such test methods are prevalently based on constant temperature conditions. However, these polymers systems could be located in diverse environment which does not necessarily provide constant conditions. Experimental findings show that exposure of liquid inside polymeric materials to specific temperature gradients, and consequently to emerging organized flows, can result in an accelerated leaching of undesirable substances from the solid surface. In presented work model steady-state and organized flow conditions are used to compare release of contaminates from polyethylene by measuring of surface tension, UV–Vis spectroscopy, FTIR, scanning electron microscopy and elemental analysis of polymer surfaces and water leachates. The pilot study shows that convective flow generated via temperature gradient significantly affects contaminant release in comparison to a steady state and mixing flow conditions.

A large number of post-tensioned concrete bridges were built in the second half of the last century. They have often been insufficiently maintained during their lifetime (usually around 50 years). Nowadays, these structures exhibit significant deterioration, mainly due to leakages and also due to various other deficiencies such as a small concrete cover. Their load-bearing capacity needs to be verified. This paper focuses on estimating the load-bearing capacity calculation of existing post-tensioned concrete bridges. In the engineering practice, this is carried out using the partial factor method according to the currently valid standards (Czech standards ČSN and the Eurocodes), which often impose more stringent requirements than the original standards. The partial factor method then often leads to low load-bearing capacities. This study deals with the bridge for which a very low load-bearing capacity has been determined. For this reason, a comparative probabilistic analysis was performed, allowing for a better description of the uncertainties in the resistance and load effect variables. The probabilistic approach appears to be less conservative and yields a higher load-bearing capacity.

Accurate vegetation behavior forecasting is essential for understanding the dynamics of plant life in the context of climate change and other natural or human-induced disturbances. Recurrent neural network (RNN) deep learning (DL) models represent a modern approach to predict vegetation behavior with a high level of precision. In this article, we explore the potential of different DL and more traditional methods to forecast the normalized difference vegetation index (NDVI), which is directly related to the state of vegetation and its dynamics. A time-series dataset consisting of 70 NDVI images calculated from PlanetScope data from April 2017 to January 2023 was used. Initially, all selected methods were evaluated and compared. From the six tested methods, simple RNN (SRNN) proved to be the most accurate method for predicting vegetation dynamics. The SRNN model results achieved a mean RMSE of 0.051 when compared to the actual 2022 NDVI values. The high accuracy was reflected in all five studied vegetation classes characterizing the selected Mediterranean test area. The SRNN method performs very well in most months, except in autumn where it underestimates NDVI values. To get a thorough insight into the results, we also compared them to the Sentinel-2 NDVI data and climate data consisting of temperature and precipitation values. It was found that most of the prediction differences were due to the irregular variations in meteorological conditions during the year analyzed. The predictive capabilities of RNNs are an effective tool for forecasting vegetation dynamics but can be further improved by incorporating climate data into the prediction process.

The safety of drivers while driving is a key parameter in the car market. If we talk about the windshield`s influence and its composition on driver safety, the use of laminated glass with PVB (=polyvinyl butyral) is clearly key. Laminated glass created this way is called safety glass and fulfils the main function that, in the event of an accident, the glass will crack due to the stress created in the glass during its production, resulting in controlled shapes of glass fragments that are usually not sharp and will not cause serious injury to the driver or passengers. However, we can also discuss other features of the windshield, which will allow the driver to increase his or her driving comfort and thereby increase the driver`s concentration while driving. Such an example of a windshield is glass that has layers of coatings made of silver and various other oxides, such as zinc oxide, and reflects radiation in the infrared region of the spectrum. This allows the driver to optimise the conditions in the car, while not letting as much radiation out of the car in the winter or inside in the summer. Sunlight and heat adversely affect the condition of the car cabin and cause discomfort to both the driver and passengers. It also reduces the car`s air conditioning output. In addition, the sun`s UV and IR radiation negatively affect human health. Solar layers can reflect up to 99 % of infrared radiation. It all depends on their composition and the number of silver layers that primarily perform this function. Reflex UV and IR rays coming from the sun make the car cabin cooler and pleasant in summer. On the contrary, in winter it does not transmit IR radiation from the car, which again means an advantage for all the passengers in the car. At the same time, glasses composed in this way are environmentally friendly, as the amount of carbon dioxide emitted is reduced when they are used. The driver does not need to air-condition as much in the summer and, conversely, use the heating as much in the winter. The article discusses both the positive aspects of coated glasses for safety while driving, as well as the effects on the environment.

Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the use of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) as diagnostic approaches to identify genetic causes. The aim of our study was to evaluate the diagnostic yield of CMA and NGS in a cohort of neonates with both isolated and syndromic CHD. The present study included 188 infants under 28 days of age with abnormal echocardiography findings hospitalized at the Department of Neonatology, UMC Ljubljana, between January 2014 and December 2023. Phenotypic data were obtained for each infant via retrospective medical chart review. We established the genetic diagnosis of 22 distinct syndromes in 17% (32/188) of neonates. The most frequent genetic diagnoses in diagnosed cases were 22q11.2 microdeletion and CHARGE syndromes, followed by Noonan syndrome and Williams syndrome. In addition, we detected variants of uncertain significance in 4.8% (9/188) of neonates. Timely genetic diagnosis is important for the detection of syndrome-related comorbidities, prognosis, reproductive genetic risks and, when appropriate, genetic testing of other family members.

Some designs for large Superconducting Magnetic Energy Storage (SMES) coils have two or more parallel current carrying paths. During normal operation only the path with superconductor (conductor) carries current. During a quench, however, current transfers out of the conductor into an alternate current path (dump shunt). Timely current transfer must be assured to prevent damage to the coil. Current transfer is delayed due to local coil inductances if the conductor and shunt are separated. This paper describes a computer program LDELAY that calculates the transient current distribution. Results obtained for transient current redistribution in SMES/ETM and GEM magnets during a coil quench are presented.

The author argues that at least since the 14th century, one can speak of great differences in the development of the relationship between Eastern Orthodoxy and political authorities. Whereas Eastern Orthodoxy in the present-day Russia always tried to distance itself from the western influences, its counterpart in Lithuania and Poland mainly embraced such influences. This became particularly visible during the late 16th and the first half of the 17 th century. Western patterns and Ukrainian hierarchs also strongly shaped the politics of Peter the Great towards the Eastern Orthodox church. Its lack of any meaningful autonomy in relationship with state authorities since 1721 remained characteristic for centuries to come. Therefore, the Ukrainian-Russia church conflict since 1990 has a much longer prehistory. Of course, the autocephalous Ukrainian church was also forced to rely heavily on the help of the state authorities.

The discrepancy between the constitutionally defined and actual exercise of the power of state institutions has been widely discussed within European political science. The adoption of direct presidential elections in the Czech Republic, where the law entered into force in 2012, and the associated shift towards a more powerful presidency has also prompted much debate. The sovereign perception of the mandate of the first directly elected president, Miloš Zeman, intensified academic discussions about the implications of a change in regime type (from a parliamentary one towards a de facto semi-presidential one). While scholars have differing views on this matter, only a few academic articles have focused on the crucial aspects of presidential power, with most rather assessing the overall regime character instead. This paper views the appointment of cabinet members as an essential non-shared presidential power, emphasizing interactions among actors in the political system. A comparative case study enables us to explore situations where three Czech presidents adopted authoritative approaches in exercising their powers. We present a new dataset that uses qualitative analysis to examine incidences when a president delayed the process of appointing cabinet members, representing a deviation from the praxis of cabinet domination in a parliamentary regime. Comparing the three Czech presidents – two elected indirectly and one directly elected – enables us to assess the impact of the popular vote in this regard. Focusing on a temporal dimension allows for comparison of the periods of delay between a publicly declared effort to reject candidates till the moment of their appointments (or withdrawal). The key findings consist of the significant difference between indirectly elected presidents and their directly elected counterparts in appointing cabinet members. The paper contributes to the debate about the discrepancy between constitutionally defined powers, their exercising in reality, and a shift from parliamentarism to semi-presidentialism.

In the search for alternatives to the commonly used methods of the pre-treatment of surfaces, plasma discharge applications are appearing more and more. In the case of the automotive industry, where the attention is focused on finding methods that are more environmentally friendly, more economically advantageous and process-friendly, plasma is a suitable option. In the case of gluing additional parts with polyurethane glue to the car glass, the use of plasma activation or cleaning of the joined materials improves the adhesion properties. Through this process, it is possible to achieve an increase in the force required to break the joint, as well as an increase in the proportion of the desired cohesive failure of the adhesive. A process including a point nozzle plasma used on the glass surface and a rotating plasma nozzle to activate the surface of the holder made of polyamide 6 with a glass fibre content of 30% was found to be particularly suitable. The effect of plasma was also investigated using a surface tension test using test inks, observing the materials using an optical microscope, and the cleaning efficiency was analysed using infrared spectroscopy.

During the float glass process in a float bath, tin diffuses into the surface of the glass. The final product of the float process has two sides - one tin side and the other air side of the glass. In the next step, a layer of material is applied to the air side of the glass, which most often has an anti-reflective function, consisting of several layers, where the primary function is performed by a layer of silver. Such glass is used in the construction or automotive industry, for example. A problem arises, however, if the float glass is processed by another process where the glass is heated. When the glass is reheated, defects may appear on the tin side of the float blank due to the diffusion of ions present on the tin side of the float glass to its surface. The article deals with the diffusion of silver on the tin side of float glass in the laboratory and the subsequent analysis of the defect. The goal is to discuss the mechanism of this phenomenon and the possible methods to prevent the defect from occurring.

Abstract Insulin-like Growth Factor-2 (IGF2) is important for the regulation of human embryonic growth and development, and for adults’ physiology. Incorrect processing of the IGF2 precursor, pro-IGF2(156), leads to the formation of two IGF2 proforms, big-IGF2(87) and big-IGF2(104). Unprocessed and mainly non-glycosylated IGF2 proforms are found at abnormally high levels in certain diseases, but their mode of action is still unclear. Here, we found that pro-IGF2(156) has the lowest ability to form its inactivating complexes with IGF-Binding Proteins and has higher proliferative properties in cells than IGF2 and other IGF prohormones. We also showed that big-IGF2(104) has a seven-fold higher binding affinity for the IGF2 receptor than IGF2, and that pro-IGF2(87) binds and activates specific receptors and stimulates cell growth similarly to the mature IGF2. The properties of these pro-IGF2 forms, especially of pro-IGF2(156) and big-IGF2(104), indicate them as hormones that may be associated with human diseases related to the accumulation of IGF-2 proforms in the circulation.

The insulin receptor (IR, with its isoforms IR-A and IR-B) and the insulin-like growth factor 1 receptor (IGF-1R) are related tyrosine kinase receptors. Recently, the portfolio of solved hormone–receptor structures has grown extensively thanks to advancements in cryo-electron microscopy. However, the dynamics of how these receptors transition between their inactive and active state are yet to be fully understood. The C-terminal part of the alpha subunit (αCT) of the receptors is indispensable for the formation of the hormone-binding site. We mutated the αCT residues Arg717 and His710 of IR-A and Arg704 and His697 of IGF-1R. We then measured the saturation binding curves of ligands on the mutated receptors and their ability to become activated. Mutations of Arg704 and His697 to Ala in IGF-1R decreased the binding of IGF-1. Moreover, the number of binding sites for IGF-1 on the His697 IGF-1R mutant was reduced to one-half, demonstrating the presence of two binding sites. Both mutations of Arg717 and His710 to Ala in IR-A inactivated the receptor. We have proved that Arg717 is important for the binding of insulin to its receptor, which suggests that Arg717 is a key residue for the transition to the active conformation.

Abstract Population-based estimates of pathogenic variation burden in gynecologic cancer predisposition genes are a prerequisite for the development of effective precision public health strategies. This study aims to reveal the burden of pathogenic variants in a comprehensive set of clinically relevant breast, ovarian, and endometrial cancer genes in a large population-based study. We performed a rigorous manual classification procedure to identify pathogenic variants in a panel of 17 gynecologic cancer predisposition genes in a cohort of 7091 individuals, representing 0.35% of the general population. The population burden of pathogenic variants in hereditary gynecologic cancer-related genes in our study was 2.14%. Pathogenic variants in genes ATM, BRCA1, and CDH1 are significantly enriched and the burden of pathogenic variants in CHEK2 is decreased in our population compared to the control population. We have identified a high burden of pathogenic variants in several gynecologic cancer-related genes in the Slovenian population, most importantly in the BRCA1 gene.

The glass industry uses water in various production steps. Water is mainly used for washing produced glass after cutting, grinding, or after storage in intermediate steps, when the produced glass from one operation waits for a longer period before the next operation, and it can become contaminated. Water quality is key to effective glass washing. In particular, the number of dissolved ions affects the surface properties of glasses and therefore many ions in water are undesirable. Water is also used in steam generators, where the water evaporates and the steam heats, for example, heating cylinders. In this application, it is important that the water does not contain large amounts of dissolved ions that could cause scale formation. The aim of the work is to analyse the water quality from different production steps in an effort to be able to recommend which water is suitable for which production step.

Abstract Parkinson’s disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by exome sequencing and semi-quantitative multiplex ligation-dependent probe amplification of evidence-based PD-associated gene panel. We show that genetic testing for PD should be considered for both early-onset and familial patients alike, and a clinical yield of about 10% in the Caucasian population can be expected.

Byline: A. Tendas, C. Boschetto, L. Baraldi, E. Caiazza, L. Cupelli, R. Lentini, M. Trawinska, M. Palombi, M. Ales, L. Morino, M. Giovannini, L. Scaramucci, C. Cartoni, T. Dentamaro, W. [...]

Prevodu prvih petih knjig Livijevega dela, ki je ostal v zapuščini Primoža Simo­nitija in je lani izšel pri Slovenski matici, bo letos sledil izid druge peterke v prevodu Aleša Mavra. Kot pri prvi peterki so opombe tudi tu povzete po izdaji Hansa Jürgena Hillena za Sammlung Tusculum.

BackgroundThe etiology of preterm birth (PTB) is heterogeneous and not yet well known. Maternal periodontal disease has been investigated for decades and is a known risk factor for adverse pregnancy outcomes. However, no particular bacterial species or higher taxonomic order has been found as causative of PTB, leading to studies of the whole oral microbiome. In order to determine if and how the composition of the oral microbiome is associated with PTB, we performed a large case–control study including women with term (TB) and PTB.MethodsWe compared oral microbiomes in PTB to TB, to examine differences in the microbial richness, diversity, and differential abundance of specific taxa. We obtained oral swab samples from 152 Caucasian pregnant women who were classified as either PTB (≤36 6/7 weeks, n = 61) or TB (≥38 0/7 weeks, n = 91) in exclusion of any other major medical or obstetric conditions. The oral microbiomes of these women were characterized by 16S ribosomal RNA (rRNA) gene sequencing of the V3–V4 region on the MiSeq platform.ResultsThe dominant microorganisms at the phylum level in all pregnant women regardless of birth week outcomes as belonging to Firmicutes, Proteobacteria, Bacteroidetes, Fusobacteria, and Actinobacteria. The phyla Firmicutes and Bacteroidetes were relatively more abundant in women with a PTB than in women with a TB, while Proteobacteria was less prevalent in women with a PTB. At the genus level, Veillonella, Prevotella, and Capnocytophaga were enriched in the PTB, and while many of the members of these genera could not be resolved to the species level, Veillonella massillensis was shown to be increased in the PTB group.ConclusionWe identified the genera Veillonella, Prevotella, and Capnocytophaga in the maternal oral microbiome as being associated with PTB independently of clinically apparent infection, uterine anomalies, and other pregnancy complications, including placenta previa, and placental abruption. The clarification of the role of those taxa in the etiology of PTB merits further research.

Introduction: Male infertility is a common, complex disorder. A better understanding of pathogenesis and etiology is needed for timely diagnosis and treatment. The aim of this study, therefore, was to identify genes involved in the pathogenesis of idiopathic male infertility based on data from transcriptomic level supported with data from genomic level.Materials and methods: First, we performed whole gene expression analysis in 20 testis biopsy samples of patients with severely impaired (10) and normal spermatogenesis (10). Further, we have performed systematic review of comparable male infertility studies and overlapped the most significantly expressed genes identified in our study with the most differentially expressed genes from selected studies. Gene Ontology analysis and KEGG functional enrichment have been performed with Enrichr analysis tool. Additionally, we have overlapped these genes with the genes where rare variants have been identified previously.Results: In 10 patients with severely impaired spermatogenesis and 10 controls, we identified more than 1,800 differentially expressed genes (p < 0.001). With the systematic review of three previously performed microarray studies that have met inclusion criteria we identified 257 overlapped differentialy expressed genes (144 downregulated and 113 upregulated). Intersection of genes from transcriptomic studies with genes with identified rare variants revealed a total of 7 genes linked with male infertility phenotype (CYP11A1, CYP17A1, RSPH3, TSGA10, AKAP4, CCIN, NDNF).Conclusion: Our comprehensive study highlighted the role of four genes in pathogenesis of male infertility and provided supporting evidence for three promising candidate genes which dysfunction may result in a male infertility disorder.

This article discusses the method of computing the values of the unknowns under the condition of the minimum sum of the squares of the residuals of the observations, also known as the least squares method, with the additional condition of taking into account the errors in the unknowns. The problem has already been treated by many authors, especially in the field of regression analysis and the computation of transformation parameters. We give an overview of the theoretical foundations of the least squares method and extensions of this method by considering the errors in the unknowns in the model matrix. So, the total least squares method is presented in this paper, fitting the regression line to a set of points and computing transformation parameters for the transition between the old and the new Slovenian national coordinate systems. Furthermore, for the first time, the method is also presented and tested in the S-transformation between different geodetic datum-dependent solutions. Also, for the first time, we systematically compare the results of the approach with conventional approaches in all three considered tasks. With the results based on relevant statistics, we confirm the suitability of the described method for dealing with the considered computational tasks.

Previously, car windshields served as a barrier against the wind or to prevent the driver from flying outside the vehicle in a collision. The windshield is therefore laminated and consists of two glasses and an intermediate layer consisting of the so-called polyvinyl butyral foil. The latest trend in car windshields is to consider the windshield as a display and project key information onto the windshield. Such glasses are called head-up displays. Various information such as car speed or route can be projected. The driver thus constantly maintains contact with the road, which increases driving safety. Head-Up Display quality is key to display information correctly without negative effects. Such a negative effect is if the displayed information is duplicated, which is called ghosting or double-image. This effect is undesirable and ranks first among the defects we detect in Head-Up Displays. The aim of this article is to compare different production technologies with a focus on the quality of HUD projection and on the double-image occurrence. The production technology enabling optimal HUD image quality is discussed as well. The article deals with a summary of HUD production technologies, focusing on the most common defect that occurs in HUD windshields and which reduce the overall quality of the product. The article evaluates and summarizes the key findings from the perspective of the end customer, but also in terms of the production process. For the driver, as an end customer, it is a source of information according to which he can orient himself in the offer of car equipment. It can be useful for production or development people in terms of processability and process costs. At the same time, the benefits and negatives of using windshields with a Head-Up Display are discussed.

The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants in NONO have been associated with an X-linked syndromic intellectual developmental disorder-34 (OMIM # 300967), characterized by developmental delay, intellectual disability, hypotonia, macrocephaly, elongated face, structural abnormalities of corpus callosum and/or cerebellum, congenital heart defect and left ventricular non-compaction cardiomyopathy. Few patients have been described in the literature and the phenotype data are limited. We report a 17-year-old boy with dolihocephaly, elongated face, strabismus, speech and motor delay, intellectual disability, congenital heart defect (ASD, VSD and Ebstein’s anomaly), left ventricular non-compaction cardiomyopathy, bilateral inguinal hernia and cryptorchidism. Additional features included recurrent fractures due to multiple non-ossifying fibromas, thrombocytopenia, and renal anomalies. Exome sequencing revealed a de novo pathogenic variant (NM_001145408.2: c.348+2_ 348+15del) in intron 5 of the NONO gene. Renal anomalies and thrombocytopenia have been rarely reported in patients with NONO—X-linked intellectual disability syndrome, while recurrent fractures due to multiple non-ossifying fibromas have not previously been associated with this syndrome. The phenotypic spectrum of NONO—X-linked intellectual disability syndrome may be broader than currently known.

Abstract Bio-inspired conductive scaffolds composed of sodium hyaluronate containing a colloidal dispersion of water-miscible polyaniline or polypyrrole particles (concentrations of 0.108, 0.054 and 0.036% w/w) were manufactured. For this purpose, either crosslinking with N-(3-dimethylaminopropyl-N-ethylcarbodiimide hydrochloride and N-hydroxysuccinimid or a freeze-thawing process in the presence of poly(vinylalcohol) was used. The scaffolds comprised interconnected pores with prevailing porosity values of ~ 30% and pore sizes enabling the accommodation of cells. A swelling capacity of 92–97% without any sign of disintegration was typical for all samples. The elasticity modulus depended on the composition of the scaffolds, with the highest value of ~ 50 kPa obtained for the sample containing the highest content of polypyrrole particles. The scaffolds did not possess cytotoxicity and allowed cell adhesion and growth on the surface. Using the in vivo-mimicking conditions in a bioreactor, cells were also able to grow into the structure of the scaffolds. The technique of scaffold preparation used here thus overcomes the limitations of conductive polymers (e.g. poor solubility in an aqueous environment, and limited miscibility with other hydrophilic polymer matrices) and moreover leads to the preparation of cytocompatible scaffolds with potentially cell-instructive properties, which may be of advantage in the healing of damaged electro-sensitive tissues.

The main object of this research was to develop a security system to evaluate the intrusion into an object through a glass pane. More specifically, this study deals with sensing and evaluating signals from a contact glass-break detector, which is part of an intruder alarm system. Each alarm detector in an alarm system must accomplish certain security level requirements that strictly describe the requirements for the area of use and the detector’s reliability. To date, no contact glass-break detector has been developed and fully tested to meet the stringent requirements of the highest security level. A contact glass-break detector was developed whose main part is an accelerometer that transmits signals from the glass pane. These signals were evaluated according to the developed methodology. It was verified that the proposed system can distinguish at the highest security level between false alarms and situations where the building has been intruded.

Summary: TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new and previously published individuals established that ARED14 is primarily characterized by dental anomalies such as conical tooth cusps and hypodontia, like those seen in individuals with WNT10A-related odontoonychodermal dysplasia. AlphaFold-predicted structure-based analysis showed that most of the pathogenic TSPEAR missense variants likely destabilize the β-propeller of the protein. Analysis of 100000 Genomes Project (100KGP) data revealed multiple founder TSPEAR variants across different populations. Mutational and recombination clock analyses demonstrated that non-Finnish European founder variants likely originated around the end of the last ice age, a period of major climatic transition. Analysis of gnomAD data showed that the non-Finnish European population TSPEAR gene-carrier rate is ∼1/140, making it one of the commonest AREDs. Phylogenetic and AlphaFold structural analyses showed that TSPEAR is an ortholog of drosophila Closca, an extracellular matrix-dependent signaling regulator. We, therefore, hypothesized that TSPEAR could have a role in enamel knot, a structure that coordinates patterning of developing tooth cusps. Analysis of mouse single-cell RNA sequencing (scRNA-seq) data revealed highly restricted expression of Tspear in clusters representing enamel knots. A tspeara−/−;tspearb−/− double-knockout zebrafish model recapitulated the clinical features of ARED14 and fin regeneration abnormalities of wnt10a knockout fish, thus suggesting interaction between tspear and wnt10a. In summary, we provide insights into the role of TSPEAR in ectodermal development and the evolutionary history, epidemiology, mechanisms, and consequences of its loss of function variants.

A recently proposed reaction mechanism of soluble Δ9 desaturase (Δ9D) allowed us to identify auxiliary residues His203, Asp101, Thr206 and Cys222 localized near the di-iron active site that are supposedly involved in the proton transfer (PT) to and from the active site. The PT, along with the electron transfer (ET), seems to be crucial for efficient desaturation. Thus, perturbing the major PT chains is expected to impair the native reaction and (potentially) amplify minor reaction channels, such as the substrate hydroxylation. To verify this hypothesis, we mutated the four residues mentioned above into their counterparts present in a soluble methane monooxygenase (sMMO), and determined the reaction products of mutants. We found that the mutations significantly promote residual monohydroxylation activities on stearoyl-CoA, often at the expense of native desaturation activity. The favored hydroxylation positions are C9, followed by C10 and C11. Reactions with unsaturated substrate, oleoyl-CoA, yield erythro-9,10-diol, cis-9,10-epoxide and a mixture of allylic alcohols. Additionally, using 9- and 11-hydroxystearoyl-CoA, we showed that the desaturation reaction can proceed only with the hydroxyl group at position C11, whereas the hydroxylation reaction is possible in both cases, i.e. with hydroxyl at position C9 or C11. Despite the fact that the overall outcome of hydroxylation is rather modest and that it is mostly the desaturation/hydroxylation ratio that is affected, our results broaden understanding of the origin of chemo- and stereoselectivity of the Δ9D and provide further insight into the catalytic action of the NHFe2 enzymes.

Photoacoustic devices generating high-amplitude and high-frequency ultrasounds are attractive candidates for medical therapies and on-chip bio-applications. Here, we report the photoacoustic response of graphene nanoflakes – Polydimethylsiloxane composite. A protocol was developed to obtain well-dispersed graphene into the polymer, without the need for surface functionalization, at different weight percentages successively spin-coated onto a Polydimethylsiloxane substrate. We found that the photoacoustic amplitude scales up with optical absorption reaching 11 MPa at ∼ 228 mJ/cm2 laser fluence. We observed a deviation of the pressure amplitude from the linearity increasing the laser fluence, which indicates a decrease of the Grüneisen parameter. Spatial confinement of high amplitude (> 40 MPa, laser fluence > 55 mJ/cm2) and high frequency (Bw-6db ∼ 21.5 MHz) ultrasound was achieved by embedding the freestanding film in an optical lens. The acoustic gain promotes the formation of cavitation microbubbles for moderate fluence in water and in tissue-mimicking material. Our results pave the way for novel photoacoustic medical devices and integrated components.

BackgroundAnaphylaxis is an acute life-threatening allergic reaction and a concern at a global level; therefore, further progress in understanding the underlying mechanisms and more effective strategies for diagnosis, prevention and management are needed.ObjectiveWe sought to identify the global architecture of blood transcriptomic features of anaphylaxis by integrating expression data from human patients and mouse model of anaphylaxis.MethodsBulk RNA-sequencings of peripheral whole blood were performed in: i) 14 emergency department (ED) patients with acute anaphylaxis, predominantly to Hymenoptera venom, ii) 11 patients with peanut allergy undergoing double-blind, placebo-controlled food challenge (DBPCFC) to peanut, iii) murine model of IgE-mediated anaphylaxis. Integrative characterisation of differential gene expression, immune cell-type-specific gene expression profiles, and functional and pathway analysis was undertaken.Results1023 genes were commonly and significantly dysregulated during anaphylaxis in ED and DBPCFC patients; of those genes, 29 were also dysregulated in the mouse model. Cell-type-specific gene expression profiles showed a rapid downregulation of blood basophil and upregulation of neutrophil signature in ED and DBPCFC patients and the mouse model, but no consistent and/or significant differences were found for other blood cells. Functional and pathway analysis demonstrated that human and mouse blood transcriptomic signatures of anaphylaxis follow trajectories of upregulation of cell movement, migration and neuroinflammatory signalling, and downregulation of lipid activating nuclear receptors signalling.ConclusionOur study highlights the matched and extensive blood transcriptomic changes and suggests the involvement of discrete cellular components and upregulation of migration and neuroinflammatory pathways during anaphylaxis.

Monitoring displacements of the object can be performed using geodetic methods by selecting reference points on the surrounding terrain and points on the object that discretely describe the object’s behavior. The measurements are repeated in several epochs. By analyzing the geodetic network we can determine the status of a single point, i.e., whether the point has moved or not. The article discusses the testing of congruence, the testing of transformation of a single triangle, and the calculation of other deformation parameters in 2D networks resulting from the changes of points coordinates between two epochs. This is essentially the content of the Munich deformation method presented by W.M. Welsch, which includes the X- and L-method. The article also proposes some corrections to the original Munich approach. Finally, the applicability of the method is shown on a well-known practical example.

BackgroundWe present the disease course and long-term follow-up of two patients who were phenotypically diagnosed with atypical Leber Hereditary Optic Neuropathy (LHON) 14 and 12 years ago, respectively, whereby whole exome sequencing revealed recently described recessive DNAJC30:c.152G>A 152 A>G (p.Tyr51Cys) homozygous pathogenic variant with significant spontaneous visual acuity recovery in one.Case presentationTwo presented unrelated males with atypical LHON with sequential visual acuity (VA) loss were followed for many years. Both patients had negative family history. At the presentation at ages 17 (Case 1) and 18 years (Case 2), both had reduced visual acuity (Snellen): (Case 1) right eye (RE):CF 3m, left eye (LE):0.6, (Case 2) RE:0.2, LE:0.15; and color vision (Ishihara): (Case 1) 1/15 and 13/15; (Case 2) 2/15 and 3/15. Both had hyperemic optic disks (PNO) and central scotoma in their visual fields. Electrophysiology in the acute phase showed reduced and delayed visually evoked potentials (VEP) P100 in both patients, with reduced N95 amplitude in Case 2, and initially normal N95 amplitude in Case 1. Fluorescein angiography showed no early leakage with some late pooling at optic disks. Extensive clinical workout, including brain magnetic resonance imaging (MRI), aquaporin 4 (Aq4), and anti-myelin oligodendrocyte protein (anti-MOG) antibodies, was negative. Intravenous corticosteroids did not improve vision. Both experienced further deterioration several months after the onset accompanied by thinning of the peripapillary retinal nerve fiber layer (RNFL). Genetic testing for typical LHON pathogenic variants and whole mitochondrial DNA (mtDNA) sequencing was negative. 1 year after the onset, modest VA improvement began in Case 2 and continued over the next 3 years. VA improved bilaterally to 0.7, color vision 15/15, and islands of vision appeared within the visual field scotoma. VEP P100 peak time shortened, and amplitude increased, despite further RNFL thinning on optical coherent tomography (OCT). The patient's visual function remained stable during the entire 12-year follow-up period. Case 1 experienced modest VA improvement to 0.1 with some improvement in the visual field seven years after the disease onset, remaining stable during the entire 14-year follow-up period. VEP P100 wave remained undetectable.ConclusionsPresented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. This mutation should be screened in every atypical LHON patient.

Izhodišče prispevka je domneva, da nad precejšnjim delom Salustijevega historiografskega opusa lebdi senca izkušnje dolge državljanske vojne v Rimu v času njegovega življenja. To je razvidno iz zgodovinarjevega prikaza surovega obračuna nobilitete z bratoma Grakh in iz njegove upodobitve Sule in njegove vladavine kot vira moralnega kaosa v desetletju po njegovem zavzetju Rima. Ko razmišlja o vzrokih krize rimske republike v šestdesetih letih pr. Kr. in v času nastanka svojih spisov, se Salustij sicer skuša predstaviti kot nepristranski opazovalec, ki občasno biča napake političnih voditeljev obeh sprtih taborov, aristokracije in ljudstva. Vendar zgodovinar gotovo ne deli Ciceronovega mnenja o slogi med osrednjima skupinama vladajočega sloja kot zadostnem zdravilu za rimske težave. Preveč resno je jemal družbene korenine krize. Pri tem je nedvomno pripisoval odgovornost za krizo vladajočemu sloju. Zato si po Salustijevem mnenju pozornost zaslužijo celo neverodostojni glasniki sprememb, kakršen je bil Katilina. Po eni strani se Salustij ni odmaknil od uničujočega Ciceronovega prikaza voditelja zarote in ga je še dodatno prikazal kot demagoga, ki se, kadar mu to koristi, predstavlja za tipičnega člana nobilitete. Toda po drugi strani slika njegov razmislek o položaju v Rimu kot verodostojen, zlasti ko gre za Katilinov goreč napad na vodilno elito.

In this article, we discuss the procedure for computing the values of the unknowns under the condition of the minimum sum of squares of the observation residuals (least-squares method), taking into account the errors in the unknowns. Many authors have already presented the problem, especially in the field of regression analysis and computations of transformation parameters. We present an overview of the theoretical foundations of the least-squares method and extensions of this method by considering the errors in unknowns in the model matrix. The method, which can be called ‘the total least-squares method’, is presented in the paper for the case of fitting the regression line to a set of points and for the case of calculating transformation parameters for the transition between the old and the new Slovenian national coordinate systems. With the results based on relevant statistics, we confirm the suitability of the considered method for solving such tasks.

The contemporary discussion of democratic movements during the late 1980s and early 1990s stresses the need to place these phenomena in a broader context, comprising the prehistory, dating at least to the beginning of WWII, the dynamics of the processes itself, and their aftermath until 2020. Regarding the historical foundations, a few characterictics have to be singled out. For instance, the inability or unwillingness of the Soviets to see the historical differences in their domain greatly contributed to the rather early and unexpected demise of their empire. Greater emphasis should be given to the particularities of the Soviet republics themselves. It is somewhat clear that the uneasy task to balance national emancipation and democratization was undertaken almost everywhere in the late 1980s. It is also easy to see that the former process gained the upper hand in most areas.