Background: Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder and involves multiple organs, intellectual disability and epilepsy. Mutations in TSC1 and TSC2 genes are responsible for the molecular disease mechanism. Objective: The aim is to determine molecular background of a patient with a suspicion of TSC. Case presentation: In this case report, we describe a seven year old patient with the clinical manifestation of TSC that includes supratentorial changes, subependymal hamartomas and angifibromas in the facial area. Besides the brain and skin changes, no other TSC characteristics were observed. The patient was referred to molecular genetic testing using Next Generation Sequencing (NGS). Results: Clinical exome sequencing revealed intronic TSC2 c.4849+2T>G variant. The variant was confirmed using Sanger sequencing on the subject. However, the variant was not detected in the parents, which indicated that it arose de-novo. The RegSNP-intron, Mutation Taster and Human Splicing Finder were used as a bioinformatic tools to predict the possible effect on protein. Using bioinformatic tools, it was determined that the variant is possibly damaging to protein. Conclusion: This data suggest that observed splicing intronic variant could be the cause of TSC in this pediatric patient.

Background: The scientific researchers have the role of interacting through published articles in scientific journals or presentations at scientific and professional conferences where they can affect the practices that can make achievements to society and country. or worldwide. Objective: The aim of this article was to describe bibliometric indexes and explained its importance for its evaluation and measuring quality assessment of published papers in scientific journals and advantages and disadvantages of current bibliometric portals for creating the list of universities and its academic staff by counts of deposited articles in databases and number of its citations. Methods: The author searched the most influential online databases and analyzed deposited papers by bibliometric indexes, and used a descriptive method to review important facts about bibliometrics experiences in scientific and academic practice. The author used facts deposited on the main international portals for analyzing number of citations of deposited scientific papers on Scopus and Google Scholar platform–h–Index and i10-Index and number of citations as basic data for created top list of most citated scientists in almost of all countries in the world. Results and Discussion: Bibliometric methods are used for quantitative analysis of written materials. Citation is influenced by: article quality, understanding of the article, language in which the article is written, loyalty to a group of researchers, article type, etc. Some indicators used in evaluating scientific work are Impact factor (IF); Citation of the article; Journal citations; Number and order of authors, etc. The index factor of influence depends on the quality of the journal, the language in which it was printed, the area it covers, and the journal distribution system. The portals and its platforms: Webometrics, “AD Scientific Index” and Stanford Bibliometric List are not fully relevant for measuring quality assessment of universities and its academic staff. Conclusion: Current academies and academicians can propose criteria how improve indexing scientific papers with the consultation of scientific bodies and experts at universities in one country, selected regions, or worldwide. These criteria should be necessary for quality assessment of the scientific curriculum of scientists and their published papers in scientific journals.

The research assessed the level of physical activity (PA) of boys and girls aged 11-14, as well as trends in PA levels. The sample included a total of 433 children aged 11-14, comprising 238 boys and 195 girls. PA was assessed using the FELS questionnaire, which included questions about the frequency of PA in sports, PA during leisure time, PA at home, and overall PA. To determine the trend in PA levels across specific domains and overall, trend analysis was applied, followed by comparisons using the LSD Post Hoc Test. Data were processed using the SPSS statistical package (p < .05). The results showed that boys had significantly higher levels of PA across all periods compared to girls. Significant changes in PA levels among boys were observed in the domain of PA in sports (Sig. = < .001) and overall PA (Sig. = .008). A significant decline in PA in sports among boys was noted between the ages of 11 and 13, as well as between 11 and 14 years, while the decline in overall PA was observed between the ages of 11 and 13. Among girls, a decline in PA in the domain of household chores was identified between the ages of 11 and 14. In the domain of overall PA, significant decreases were observed between the ages of 11 and 13, 11 and 14, 12 and 13, and 12 and 14. It was found that PA among children aged 11-14 significantly decreases around the ages of 12 and 13. Efforts should focus on promoting PA within this population group and identifying appropriate strategies to increase or at least maintain PA levels during this critical period.

Background: MitoWizz is an advanced bioinformatics tool designed for the analysis of the human mitochondrial genome, offering precise and efficient data interpretation. It enables comparisons of sequencing results obtained from various instrumental methods with the reference Andersen genome (rCRS), aiding in the identification of alterations. This capability is particularly valuable in forensic and clinical mitochondrial DNA analysis. Objective: The primary goal of developing MitoWizz is to automate and streamline mitochondrial DNA analysis, providing researchers and forensic experts with a fast, reliable, and comprehensive tool for sequence comparison, variation detection, and data validation. Methods: MitoWizz compares query sequences in opposed to the reference genome and allows direct comparison of two sequences to identify genetic variations. To ensure accuracy, the results are validated through the Clustal Omega W by aligning sequences with the human mitochondrial DNA reference from GenBank (NC_012920.1). Results: The software detected genetic variations and generated a visual report, as demonstrated in an analysis where 11 mutations were identified in various genes, with an 88% sequence identity to the reference genome. The accuracy of the detected alterations was further validated using the Omega Clustal W program. Conslusion: MitoWizz significantly reduces analysis time and enhances result reliability by integrating multiple analytical steps into a single platform. By automating mtDNA comparisons and validation, it provides forensic and research laboratories with a high-throughput, efficient solution for precise mitochondrial genome analysis.

Background: Tranexamic acid can prevent death from bleeding after trauma and postpartum hemorrhage. Objective: The aim of the paper was to assess whether tranexamic acid reduces hematoma expansion and improves outcome in adults with stroke caused by intracerebral hemorrhage. Case presentation: Administration of Tranexamic acid in a patient after a diagnosis of intracerebral hematoma, which occurred after coronary stent implantation. Intracerebral hematoma, or neurological deficit, occurs one day after cardiac surgery in the patient. The case report will present the radiological resolution of the intracerebral hematoma, as well as the improvement of the clinical picture, neurological deficit, in the patient during a one-month follow-up, after the administration of Tranexamic acid. Conclusion: Tranexemic acid is affordable, easy to administer, appears to be safe, and is widely available, so even a modest treatment effect can have an important global impact, and it is necessary to consider its more frequent use, as well as to initiate larger randomized trials.

The Carbon Border Adjustment Mechanism (CBAM) is an import fee levied by a region, i.e., the European Union (EU), that taxes carbon on goods produced in countries that do not tax carbon. This EU climate neutrality support mechanism, which should be implemented by 2050, has caused some concerns. For example, it could reduce the export of the EU’s trading partners, especially those countries largely dependent on exporting energy-intensive goods and materials to the EU. Least developed countries, due to their high risk of vulnerability and high exposure, could face particularly pronounced adverse effects from the CBAM’s introduction. Therefore, this article aims to analyze how the introduction of the CBAM will affect the EU’s external trade partners, with particular attention to its potential consequences for selected economies. Most of the literature related to the introduction of the CBAM focuses on the consequences for EU countries. However, this mechanism, which aims to decrease CO2 emissions and encourage a low-carbon transition, could disproportionately affect some countries outside the EU. That is why the article uses data on the exposure of selected non-EU countries to the CBAM, utilizing data on the export of the CBAM-affected products to the EU and CO2 emission intensity. The analysis encompasses five regions and 59 countries, using data from the year 2019. The rationale for using 2019 data is to avoid the effects of global shocks in recent years, such as the coronavirus pandemic and Russia’s invasion of Ukraine. The analysis results reveal that the exposure of regions and countries varies based on the strength on their trade relations with the EU, leading to different trade impacts from the CBAM. The lowest exposure is observed in the regions of the Americas and Australia. This article provides valuable insights to policymakers and entrepreneurs in navigating the challenges and opportunities arising from the interlinkage of environmental policies and global trade dynamism. It can help facilitate decision-making related to participation in foreign trade involving products with a higher carbon emissions.

The casting industry uses large quantities of quartz sand, which is a cheap and accessible raw material that must be prepared for use in foundries. After the casting process, foundries generate huge amounts of waste foundry sand (WFS) as industrial waste. The regeneration and reuse of waste foundry sand is a practice and a necessity in many foundries for technological, environmental, and economic reasons. In this review paper, in addition to the characteristics of quartz sand for the casting industry and the characteristics of WFS, typical processes of regeneration in industrial practice, as well as the possibilities of using such recycled WFS in other industries, are presented.

The paper presents the results of testing the mechanical properties and evaluating the integrity of cylindrical head shells, which were obtained by the welding process and shaped by the cold process of gradual local deformation, i.e. the process of incremental deformation. Cylindrical head shells of pressure vessels are made from one part, but the standards also allow production in a welded version when the dimensions of the floors are larger than the standard dimensions of the sheets for production. Geometric shape and measurement tolerances are defined by a series of recommendations. The required mechanical properties and acceptance criteria for installation in pressure equipment are prescribed by PED 68/2014/EC and the BAS EN 13445 recommendation. The mechanical properties of the welded joint and the deformed material in the torospheric zone of the head shells, such as toughness, hardness and crack toughness, or their values are input parameters for determining the integrity of the floor structure. Using fracture mechanics criteria, detected faults can be categorized and evaluated with regard to the acceptability of the head shells for installation in pressure equipment or continued operation. The aim of the test is to determine the influence of the type of material, thickness and diameter of the head shells on the mechanical properties (ReH, Rm, A5 and KIc) and on the integrity of the cylindrical head shells.

Background: Transplantation of cells, tissues, and organs enables many patients to regain impaired organ function, promoting healing or prolonging life and improving overall quality of life. Objective: The aim of this study was to assess the knowledge and attitudes of students in Federation of Bosnia and Herzegovina regarding organ donation and transplantation of organs. Methods: A cross-sectional study was carried out with 255 students from four different faculties in Federation of Bosnia and Herzegovina, with the majority enrolled in either the Faculty of Medicine or the Faculty of Health Sciences. The students collected data using a self-administrative questionnaire, providing sociodemographic characteristics, knowledge and attitudes about organ donation and transplantation. Statistical analysis was performed using Microsoft Excel version 3645 and R studio v2024.04.2, based on R 4.4.1. Results: Out of all students, 49 of them (19.3%) demonstrated poor knowledge, while 131 students (51.6%) exhibited average knowledge. Analyzing the data by Faculty type revealed significantly higher levels of knowledge among students in Medical and Health faculties compared to those in the Educational Science Faculty (χ2=10.196, p=0.006). Regarding attitudes, 56 students (22%) had a negative attitude, while 117 students (45.9%) had a highly positive attitude. Only 13 students (5.1%) owned a donor card. Conclusion: Students from Faculty of Medicine and Faculty of Health Sciences generally possess higher basic knowledge about organ donation, yet despite this knowledge, their attitudes toward organ donation often remain negative. It is essential to implement effective strategies aimed at raising awareness and fostering a positive attitude toward organ donation.