bluuebunny/crossref_metadata_2025 huggingface dataset:
Computed-Tomography-Guided Lung Biopsy: A Practice-Oriented Document on Techniques and Principles and a Review of the Literature
Authors: Saggiante Lorenzo , Biondetti Pierpaolo , Lanza Carolina , Carriero Serena , Ascenti Velio , Piacentino Filippo , Shehab Anas , Ierardi Anna Maria , Venturini Massimo , Carrafiello Gianpaolo
Published: May 2024

Computed tomography (CT)-guided lung biopsy is one of the oldest and most widely known minimally invasive percutaneous procedures. Despite being conceptually simple, this procedure needs to be performed rapidly and can be subject to meaningful complications that need to be managed properly. Therefore, knowledge of principles and techniques is required by every general or interventional radiologist who performs the procedure. This review aims to contain all the information that the operator needs to know before performing the procedure. The paper starts with the description of indications, devices, and types of percutaneous CT-guided lung biopsies, along with their reported results in the literature. Then, pre-procedural evaluation and the practical aspects to be considered during procedure (i.e., patient positioning and breathing) are discussed. The subsequent section is dedicated to complications, with their incidence, risk factors, and the evidence-based measures necessary to both prevent or manage them; special attention is given to pneumothorax and hemorrhage. After conventional CT, this review describes other available CT modalities, including CT fluoroscopy and cone-beam CT. At the end, more advanced techniques, which are already used in clinical practice, like fusion imaging, are included.
Fatal Outcome Due to Kounis Syndrome Following Fluorescein Retinal Angiography: A Case Report
Authors: Cianci Vincenzo , Pitrone Claudia , Sapienza Daniela , Meduri Alessandro , Ieni Antonio , Gualniera Patrizia , Asmundo Alessio , Mondello Cristina
Published: May 2024

Kounis Syndrome (KS) is a clinical entity triggered by allergic or hypersensitivity reactions capable of inducing acute coronary events. Several causes can induce KS, including drugs and insect stings. Here, a rare case of post mortem assessment of fatal KS related to fluorescein retinal angiography has been reported. An 80-year-old man in follow-up for a retinal vein thrombosis underwent a retinal fluoroangiography. Approximately 30 min later, the patient complained of sweating and dizziness, and suddenly lost consciousness due to a cardiac arrest. Despite the immediate cardiopulmonary resuscitation, he died. The autopsy revealed foamy yellowish edema in the respiratory tract and coronary atherosclerosis with eccentric plaques partially obstructing the lumen. The routine histology highlighted lung emphysema and myocyte break-up with foci of contraction band necrosis at the myocardial tissue. Biochemistry showed increased serum tryptase, troponin, and p-BNP. Activated and degranulated (tryptase) mast cells were detected, using immunohistochemistry, in the larynx, lungs, spleen, and heart. Acute myocardial ischemia due to allergic coronary vasospasm related to fluorescein hypersensitivity has been assessed as cause of death. KS-related deaths are considered rare events, and the post mortem assessment of KS quite difficult. The integration of several investigations (gross and microscopic examination, biochemistry, immunohistochemistry) can provide useful findings to support the diagnosis, helping to reduce the unrecognized cases as much as possible.
The (Political) Economics of Bilateral Investment Treaties—The Unique Trajectory of Brazil
Authors: Bellak Christian , Leibrecht Markus
Published: May 2024

Brazil, after signing several traditional Bilateral Investment Treaties without ratifying them, recently shifted towards a different type of bilateral investment agreement, i.e., Investment Cooperation and Facilitation Agreements. Two claims have been made in the literature regarding the transition from traditional Bilateral Investment Treaties to Investment Cooperation and Facilitation Agreements—Claim #1: The non-ratification of the traditional BITs has not harmed Foreign Direct Investment into Brazil, a claim which puts into question the purpose of Bilateral Investment Treaties. Claim #2: While Investment Cooperation and Facilitation Agreements avoid some of the problems of traditional Bilateral Investment Treaties, on balance they are less effective than traditional Bilateral Investment Treaties would have been. We examine the two claims from an empirical economic point of view. We build on the literature about Brazil’s position vis-à-vis Bilateral Investment Treaties, which must be viewed by an amalgamation of (i) a historical legacy; (ii) domestic initiatives, and (iii) a particular U-turn in the political debate. Using empirical evidence on Foreign Direct Investment effects of Bilateral Investment Treaties, the following conclusions emerge: With regard to claim #1, empirical evidence in general as well as specific to Brazil suggests that Brazil has forgone Foreign Direct Investment by not ratifying traditional Bilateral Investment Treaties. Concerning claim #2, while Investment Cooperation and Facilitation Agreements include alternative dispute settlement mechanisms, which aim at a better compliance of states with the Investment Cooperation and Facilitation Agreements’ rules, rather than the compensation of foreign investors, the lower stringency of the State–State dispute settlement mechanism compared to Investor–State dispute settlement mechanism makes Investment Cooperation and Facilitation Agreements less effective. Yet, this weakening effect must be weighed against the effects on Foreign Direct Investment from innovative clauses in Investment Cooperation and Facilitation Agreements, which are absent in many traditional Bilateral Investment Treaties.
Enhancing Spatial Ability: A New Integrated Hybrid Training Approach for Engineering and Architecture Students
Authors: Porat Ronen , Ceobanu Ciprian
Published: May 2024

Spatial ability (SA) is the mental ability to create, maintain, and manipulate abstract visual representations. Studies have shown that SA is a strong predictor of success in the fields of science, technology, engineering, and mathematics (STEM). More recently, attention has extended to the field of architecture, a discipline where spatial thinking skills are fundamental, yet students in this field have not been extensively examined in terms of their spatial abilities. Therefore, SA skills are essential for students in engineering and architecture during their initial academic phases. This research was conducted within an interdisciplinary academic college and describes in detail a new integrated and hybrid training program that is part of a recent mixed-methods study. This program was built to effectively enhance the SA of first-year undergraduate students in a cost-effective manner, using a multi-method teaching strategy. The training program spanned more than 20 h across four sessions. This article focuses on the training methodology, encompassing four key phases, and serves as a complementary article to the one that was just published separately, describing the effectiveness of this intervention program as measured using SA standard tests. Notably, in certain scenarios, these phases were combined rather than being standalone independent modules. The traditional teaching method (TTM) lays the foundation for SA knowledge via lectures and collaborative interactions. Subsequently, computer-based learning (CBL), using tools such as SketchUp and GeoGebra, facilitates in-depth virtual geometric exploration. Augmented reality (AR) training offers an immersive learning experience, allowing students to interact with 3D objects in real-world environments. Finally, the building real model (BRM) phase transforms 2D designs into tangible 3D structures. This study highlights the comprehensive training approach, emphasizing the robust learning environment facilitated by integrating these phases as part of the full mixed-methods research. The suggested integrated training program was qualitatively explored through post-intervention evaluations to understand participants’ experiences and perceptions.
A Comprehensive Approach to Water Literacy in the Context of Climate Change
Authors: Boon Helen Joanna
Published: May 2024

Anthropogenic climate change is impacting human survival through its impact upon water quality and availability. An urgent ethical imperative is thus raised for education policy makers and schools, particularly in the Australian and Asia Pacific regions, to adopt a curriculum to help students mitigate and adapt to the dire consequences caused by a warming planet. Through a blue transdisciplinary school curriculum, students will better understand and respond to the broader aspects of what is referred to as the hydrosocial cycle. A school move towards a blue curriculum requires educational policy to mandate an emphasis on the climate change effects upon the water cycle. An effective shift to a blue curriculum also requires that teachers’ ethical perspectives and sensitivities are sharpened through their tertiary education courses. This is needed so they develop confidence and pedagogy for teaching anthropogenic climate change generally, something still missing from Australian and other classrooms around the world, and, more specifically, for teaching the hydrosocial cycle. The Four Component Model of Ethical Decision Making is offered as a useful framework to guide teachers in examining their values and motivations when teaching potentially confronting topics such as the impacts of climate change upon the hydrosocial cycle.
Cooperative Learning Promoting Cultural Diversity and Individual Accountability: A Systematic Review
Authors: Zhou Tong , Colomer Jordi
Published: May 2024

Cooperative learning in physical education not only promotes the overall development of students, but also lays the foundation for lifelong learning and sustainable development from the perspectives of cultural integration and social responsibility. This study examined students’ physical, social, emotional, and cognitive outcomes on the one hand. On the other hand, it focuses on the potential of cooperative learning to promote cultural diversity and personal responsibility. A systematic literature review of 50 articles selected according to the PRISMA guidelines revealed that the focus of CL applications varied according to the age of the students and multicultural contexts. At the micro level, physical and social domains were emphasized, while cognitive domains received less attention. CL was found to benefit motor skills (coordination, flexibility, strength) in students of different ages, to reduce negative emotions while promoting social skills and teamwork, and to improve cognitive skills and memory in junior students. At the macro level, CL can help students to improve self-reflection, reduce negative behaviors, and increase personal responsibility and cultural integration. The focus of researchers from different countries reflects educational philosophies and cultural differences, increasing the flexibility and universality of CL.
A Bibliometric Study of Issues in Educational Policy
Authors: Sarı Tamer , Aypay Ahmet
Published: May 2024

Education policies help to improve society by decreasing inequities and establishing effective learning environments. Periodic assessments can help researchers and policymakers uncover new obstacles and ensure progress on these ever-changing education policy concerns using critical theory. Bibliometric studies, a type of periodic study, emphasize the importance of data-driven approaches in the formulation and implementation of education policies. This study conducts a bibliometric analysis of education policy issues from 2000 to 2023. Based on keywords, we initially selected 931 articles from the Web of Science (WoS) database. Only articles in English were included, and we used PRISMA guidelines to reduce the number of articles to 363. We focused on citations, publication frequency, topics, trends, and issues. Two independent researchers analyzed the documents for reliability. For validity, we used transferability. We also used a content analysis of frequently cited articles. Our analysis revealed three prominent trends. The first trend pertained to controversial environmental issues and sustainability concepts in education policy. The second theme was professional development, special education, and school choice. The third one was science, vocational education, special education, and ICT. The content analysis results indicated that teaching and learning, professional development, science education, subject matter teaching, and mobile learning were the topics of the content analyzed articles. We found that relying solely on bibliometric review resulted in broad conceptualizations of educational policy issues, focusing primarily on efficiency and effectiveness. Additionally, we applied critical theoretical frameworks to conduct a more comprehensive analysis of the emergent issues identified through bibliometric analysis.
DCGAN-Based Image Data Augmentation in Rawhide Stick Products’ Defect Detection
Authors: Ding Shuhui , Guo Zhongyuan , Chen Xiaolong , Li Xueyi , Ma Fai
Published: May 2024

The online detection of surface defects in irregularly shaped products such as rawhide sticks, a kind of pet food, is still a challenge for the food industry. Developing deep learning-based detection algorithms requires a diverse defect database, which is crucial for artificial intelligence applications. Acquiring a sufficient amount of realistic defect data is challenging, especially during the beginning of product production, due to the occasional nature of defects and the associated costs. Herein, we present a novel image data augmentation method, which is used to generate a sufficient number of defect images. A Deep Convolution Generation Adversarial Network (DCGAN) model based on a Residual Block (ResB) and Hybrid Attention Mechanism (HAM) is proposed to generate massive defect images for the training of deep learning models. Based on a DCGAN, a ResB and a HAM are utilized as the generator and discriminator in a deep learning model. The Wasserstein distance with a gradient penalty is used to calculate the loss function so as to update the model training parameters and improve the quality of the generated image and the stability of the model by extracting deep image features and strengthening the important feature information. The approach is validated by generating enhanced defect image data and conducting a comparison with other methods, such as a DCGAN and WGAN-GP, on a rawhide stick experimental dataset.
Active Learning in Feature Extraction for Glass-in-Glass Detection
Authors: Rapcewicz Jerzy , Malesa Marcin
Published: May 2024

In the food industry, ensuring product quality is crucial due to potential hazards to consumers. Though metallic contaminants are easily detected, identifying non-metallic ones like wood, plastic, or glass remains challenging and poses health risks. X-ray-based quality control systems offer deeper product inspection than RGB cameras, making them suitable for detecting various contaminants. However, acquiring sufficient defective samples for classification is costly and time-consuming. To address this, we propose an anomaly detection system requiring only non-defective samples, automatically classifying anything not recognized as good as defective. Our system, employing active learning on X-ray images, efficiently detects defects like glass fragments in food products. By fine tuning a feature extractor and autoencoder based on non-defective samples, our method improves classification accuracy while minimizing the need for manual intervention over time. The system achieves a 97.4% detection rate for foreign glass bodies in glass jars, offering a fast and effective solution for real-time quality control on production lines.
Integration and Implementation of Scaled Agile Framework and V-Model in the Healthcare Sector Organization
Authors: Pavlíčková Marcela , Mojžišová Andrea , Bodíková Zuzana , Szeplaki Richard , Laciak Marek
Published: May 2024

The development of medical technology devices leads to the introduction and use of agile methods, which enable the delivery of increasingly complex software with the fastest possible innovations. Delivery of the highest quality software must be considered during development, as medical products are important elements in saving human lives. Their development begins with determining a set of product requirements that exactly correspond to it. The development of specified medical products is finally delivered to the customer, who participates in the development. In this article, we present the use and combination of agile methods in software development, which correct and facilitate timely and continuous delivery of products. They also know how to smooth out a quick reaction to the customer’s changing needs and mainly focus on team management and communication. Specific agile methods make it possible to implement development through gradual improvements by integrating customer requirements towards the product. This article identifies three interconnected approaches to integrating agile methods and principles: SCRUM, SAFe, and Kanban combined with the V-model. The methods are gradually analysed based on the literature review, and the article presents a practical application in Siemens Healthcare Slovakia.
Curved Domains in Magnetics: A Virtual Element Method Approach for the T.E.A.M. 25 Benchmark Problem
Authors: Dassi Franco , Di Barba Paolo , Russo Alessandro
Published: May 2024

In this paper, we are interested in solving optimal shape design problems. A critical challenge within this framework is generating the mesh of the computational domain at each optimisation step according to the information provided by the minimising functional. To enhance efficiency, we propose a strategy based on the Finite Element Method (FEM) and the Virtual Element Method (VEM). Specifically, we exploit the flexibility of the VEM in dealing with generally shaped polygons, including those with hanging nodes, to update the mesh solely in regions where the shape varies. In the remaining parts of the domain, we employ the FEM, known for its robustness and applicability in such scenarios. We numerically validate the proposed approach on the T.E.A.M. 25 benchmark problem and compare the results obtained with this procedure with those proposed in the literature based solely on the FEM. Moreover, since the T.E.A.M. 25 benchmark problem is also characterised by curved shapes, we utilise the VEM to accurately incorporate these “exact” curves into the discrete solution itself.
A Systematic Literature Review on Using Natural Language Processing in Software Requirements Engineering
Authors: Necula Sabina-Cristiana , Dumitriu Florin , Greavu-Șerban Valerică
Published: May 2024

This systematic literature review examines the integration of natural language processing (NLP) in software requirements engineering (SRE) from 1991 to 2023. Focusing on the enhancement of software requirement processes through technological innovation, this study spans an extensive array of scholarly articles, conference papers, and key journal and conference reports, including data from Scopus, IEEE Xplore, ACM Digital Library, and Clarivate. Our methodology employs both quantitative bibliometric tools, like keyword trend analysis and thematic mapping, and qualitative content analysis to provide a robust synthesis of current trends and future directions. Reported findings underscore the essential roles of advanced computational techniques like machine learning, deep learning, and large language models in refining and automating SRE tasks. This review highlights the progressive adoption of these technologies in response to the increasing complexity of software systems, emphasizing their significant potential to enhance the accuracy and efficiency of requirement engineering practices while also pointing to the challenges of integrating artificial intelligence (AI) and NLP into existing SRE workflows. The systematic exploration of both historical contributions and emerging trends offers new insights into the dynamic interplay between technological advances and their practical applications in SRE.
Improvement of Economic Integration of Renewable Energy Resources through Incentive-Based Demand Response Programs
Authors: Jalilzadeh Hamidi Reza , Asadinejad Ailin
Published: May 2024

The integration of renewable generation presents a promising venue for displacing fossil fuels, yet integration remains a challenge. This paper investigates Demand Response (DR) as a means of economically integrating Renewable Energy Resources (RERs). We propose Incentive-Based DR (IBDR) programs, particularly suitable for small customers. The uncertainties in the electricity market price pose a challenge to IBDR programs, which is addressed in this paper through a novel and robust IBDR approach that considers both the electricity market price uncertainties and customer responses to incentives. In this paper, scenarios are simulated premised on the Western Electricity Coordinating Council (WECC) 240-bus system in which coal-fired power plants become inactivated, while the RER contribution increases in the span of one year. The simulation results indicate that the proposed IBDR program mitigates the issues associated with renewable expansion, such as utility benefit loss and market price volatility. In addition, the proposed IBDR effectively manages up to 30% of errors in day-ahead wind forecasts that significantly reduce financial risks linked to IBDR programs.
Critical Review of Life Cycle Assessment of Hydrogen Production Pathways
Authors: Maniscalco Manfredi Picciotto , Longo Sonia , Cellura Maurizio , Miccichè Gabriele , Ferraro Marco
Published: May 2024

In light of growing concerns regarding greenhouse gas emissions and the increasingly severe impacts of climate change, the global situation demands immediate action to transition towards sustainable energy solutions. In this sense, hydrogen could play a fundamental role in the energy transition, offering a potential clean and versatile energy carrier. This paper reviews the recent results of Life Cycle Assessment studies of different hydrogen production pathways, which are trying to define the routes that can guarantee the least environmental burdens. Steam methane reforming was considered as the benchmark for Global Warming Potential, with an average emission of 11 kgCO2eq/kgH2. Hydrogen produced from water electrolysis powered by renewable energy (green H2) or nuclear energy (pink H2) showed the average lowest impacts, with mean values of 2.02 kgCO2eq/kgH2 and 0.41 kgCO2eq/kgH2, respectively. The use of grid electricity to power the electrolyzer (yellow H2) raised the mean carbon footprint up to 17.2 kgCO2eq/kgH2, with a peak of 41.4 kgCO2eq/kgH2 in the case of countries with low renewable energy production. Waste pyrolysis and/or gasification presented average emissions three times higher than steam methane reforming, while the recourse to residual biomass and biowaste significantly lowered greenhouse gas emissions. The acidification potential presents comparable results for all the technologies studied, except for biomass gasification which showed significantly higher and more scattered values. Regarding the abiotic depletion potential (mineral), the main issue is the lack of an established recycling strategy, especially for electrolysis technologies that hamper the inclusion of the End of Life stage in LCA computation. Whenever data were available, hotspots for each hydrogen production process were identified.
A Five-Step Framework for Creating Forests for the Future
Authors: Kovač Marko , Božič Gregor , Ferreira Andreja , Kušar Gal , Mali Boštjan
Published: May 2024

Changing environmental conditions, disturbances, and escalating demands for forest ecosystem services require foresters to restore present forestlands with new forest generations that will exhibit ecological integrity, diversity, high adaptive capacity, and the ability to provide essential ecosystem services. Establishing such forests requires careful consideration of the forest landscape and site dynamics. In pursuit of these requirements, we developed a novel framework that enables the restoration of forest sites and promotes the desired features of the forest complex at the same time. This framework was designed with the methods of system engineering and was organized in the same way as the forest planning process. It was tested in the habitat type of Illyrian Fagus sylvatica forests belonging to the Natura 2000 network. The environmental, vegetation, and site conditions were investigated via field inspections, available forest management plans, and simple GIS analyses. Additionally, we established a seminatural stand composed of European beech, sessile oak, sycamore maple, silver fir, and some wild fruit tree species. The survival of planted species was assessed using census and simple random sampling, the performance of provenances by Student’s test, while microhabitat factors were explored by a one-way ANOVA. The survival rate of key species was estimated to be 55.6%, while that of fruit species was estimated to be 94.5%. Our framework demonstrated satisfactory performance and contained sufficient benchmarks to facilitate consistent decision-making. In the discussion, we elucidate the framework’s primary features and attributes of the mixed stand, where we also expose some open issues to be addressed in the future.
Studying the Quality of Source Code Generated by Different AI Generative Engines: An Empirical Evaluation
Authors: Tosi Davide
Published: May 2024

The advent of Generative Artificial Intelligence is opening essential questions about whether and when AI will replace human abilities in accomplishing everyday tasks. This issue is particularly true in the domain of software development, where generative AI seems to have strong skills in solving coding problems and generating software source code. In this paper, an empirical evaluation of AI-generated source code is performed: three complex coding problems (selected from the exams for the Java Programming course at the University of Insubria) are prompted to three different Large Language Model (LLM) Engines, and the generated code is evaluated in its correctness and quality by means of human-implemented test suites and quality metrics. The experimentation shows that the three evaluated LLM engines are able to solve the three exams but with the constant supervision of software experts in performing these tasks. Currently, LLM engines need human-expert support to produce running code that is of good quality.
Identification and Characterization of microRNAs in Morphological Color Change of Polychromatic Midas Cichlids (Amphilophus citrinellus)
Authors: Wu Guoqiang , Mu Xidong , Liu Yi , Liu Chao , Wang Xuejie , Yang Yexin , Song Hongmei
Published: May 2024

As a representative genetic and economic trait, pigmentation has a strong impact on speciation and adaptation. However, information and reports on microRNAs (miRNAs) associated with pigmentation remain limited. The Midas cichlid fish, with three typical distinct stages of body color pattern, “black-gray-gold”, is an ideal model system for investigating pigmentation traits. In this study, miRNA libraries from scale tissues with the attached epidermis of Midas cichlids at three distinct stages of color transformation, black (B), transition (T), and gold (G), were sequenced using Illumina sequencing technology. In total, 53 (B vs. G), 88 (B vs. T), and 57 (T vs. G) miRNAs were differentially expressed between the respective groups. Target genes of the identified miRNAs were predicted, and the results showed that multiple target genes were related to pigmentation and pigment–cell differentiation. The miRNA–mRNA regulatory network suggests that miR-183-x and miR-133-x were predicted to be involved in regulating morphological color changes in Midas cichlids. The results advance our understanding of potential functions of miRNAs in skin pigment differentiation and early skin color fading of fishes.
Liquid-Phase Adsorption Behavior of β-D-Glucooligosaccharides When Using Activated Carbon for Separation, and the Antioxidant Stress Activity of Purified Fractions
Authors: Ma Guan-Hua , Jiang Si-Qi , Liu Li-Ping , Feng Jie , Zhang Jing-Song , Li E-Xian , Li Shu-Hong , Liu Yan-Fang
Published: May 2024

The adsorption characteristics of β-glucooligosaccharides on activated carbon and the purification were systematically investigated. The maximum adsorption capacity of activated carbon reached 0.419 g/g in the optimal conditions. The adsorption behavior was described to be monolayer, spontaneous, and exothermic based on several models’ fitting results. Five fractions with different degrees of polymerization (DPs) and structures of β-glucooligosaccharides were obtained by gradient ethanol elution. 10E mainly contained disaccharides with dp2a (G1→6G) and dp2b (G1→3G). 20E possessed trisaccharides with dp3a (G1→6G1→3G) and dp3b (G1→3G1→3G). 30E mainly consisted of dp3a and dp4a (G1→3G1→3(G1→6)G), dp4b (G1→6G1→3G1→3G), and dp4c (G1→3G1→3G1→3G). In addition to tetrasaccharides, 40E and 50E also contained pentasaccharides and hexasaccharides with β-(1→3)-linked or β-(1→6)-linked glucose residues. All fractions could inhibit the accumulation of intracellular reactive oxygen species (ROS) in H2O2-induced Caco-2 cells, and they could improve oxidative stress damage by increasing the activity of superoxide dismutase (SOD) and reduced glutathione (GSH), which were related to their DPs and structures. 50E with high DPs showed better anti-oxidative stress activity.
Evaluating Commercial Loop-Mediated Isothermal Amplification Master Mixes for Enhanced Detection of Foodborne Pathogens
Authors: Costa-Ribeiro Ana , Lamas Alexandre , Garrido-Maestu Alejandro
Published: May 2024

Loop-mediated isothermal amplification, LAMP, is nowadays the most popular isothermal nucleic acid amplification technique, and as such, several commercial, ready-to-use master mixes have flourished. Unfortunately, independent studies to determine their performance are limited. The current study performed an independent evaluation of the existing ready-to-use commercial LAMP master mixes WarmStart® LAMP Kit, LavaLAMP™ DNA Master Mix, Saphir Bst Turbo GreenMaster, OptiGene Fast Master Mix ISO-004, and SynLAMP Mix. To reduce bias, three different genes, namely ttr (Salmonella spp.), rfbE (E. coli O157), and hly (Listeria monocytogenes), were targeted. The comparison was based on amplification speed, performance with decreasing DNA concentrations, and the effect of five typical LAMP reaction additives (betaine, DMSO, pullulan, TMAC, and GuHCl). Significant differences were observed among the different master mixes. OptiGene provided the fastest amplification and showed less detrimental effects associated with the supplements evaluated. Out of the chemicals tested, pullulan provided the best results in terms of amplification speed. It is noteworthy that the different additives impacted the master mixes differently. Overall, the current study provides insights into the performance of commercial LAMP master mixes, which can be of value for the scientific community to better select appropriate reagents when developing new methods.
Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review
Authors: Bonati Maria Teresa , Feresin Agnese , Prontera Paolo , Michieletto Paola , Gambacorta Valeria , Ricci Giampietro , Orzan Eva
Published: May 2024

Given the crucial role of the personalized management and treatment of hearing loss (HL), etiological investigations are performed early on, and genetic analysis significantly contributes to the determination of most syndromic and nonsyndromic HL cases. Knowing hundreds of syndromic associations with HL, little comprehensive data about HL in genomic disorders due to microdeletion or microduplications of contiguous genes is available. Together with the description of a new patient with a novel 3.7 Mb deletion of the Xq21 critical locus, we propose an unreported literature review about clinical findings in patients and their family members with Xq21 deletion syndrome. We finally propose a comprehensive review of HL in contiguous gene syndromes in order to confirm the role of cytogenomic microarray analysis to investigate the etiology of unexplained HL.
Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis
Authors: Wang Hui , Guan Liping , Ma Xiaojuan , Wang Yiying , Wang Jinhao , Zhang Peipei , Deng Min
Published: May 2024

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by progressive damage to both upper and lower motor neurons. Genetic factors are known to play a crucial role in ALS, as genetic studies not only advance our comprehension of disease mechanisms but also help unravel the complex phenotypes exhibited by patients. To gain further insights into the genetic landscape of ALS in the Chinese population and explore genotype–phenotype correlations among individuals, we conducted whole-genome sequencing to screen genes in 34 Chinese familial ALS (FALS) probands lacking the most common ALS-associated genes. Within this cohort, we identified a rare heterozygous missense mutation in the N-terminal domain of KIF5A (c.86A>G) in one of the probands. This finding is significant as mutations in the KIF5A gene have been implicated in ALS in European cohorts since 2018, predominantly characterized by C-terminal mutations. Analysis of the clinical phenotype within this familial lineage revealed a delayed onset of symptoms, an extended survival duration, and initial manifestations in both upper limbs. These observations underscore the clinical heterogeneity observed in ALS patients harboring KIF5A mutations. In conclusion, our study contributes to the growing body of evidence linking KIF5A to ALS and enhances our understanding of the intricate genetic landscape of this disease.
Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value
Authors: Li Wenhao , Bai Lingrong , Zhou Huitong , Zhang Zhihe , Ma Zhijie , Wu Guofang , Luo Yuzhu , Tanner Jasmine , Hickford Jon G. H.
Published: May 2024

Keratins are the main structural protein components of wool fibres, and variation in them and their genes (KRTs) is thought to influence wool structure and characteristics. The PCR–single strand conformation polymorphism technique has been used previously to investigate genetic variation in selected coding and intron regions of the type II sheep keratin gene KRT81, but no variation was identified. In this study, we used the same technique to explore the 5′ untranslated region of KRT81 and detected three sequence variants (A, B and C) that contain four single nucleotide polymorphisms. Among the 389 Merino × Southdown cross sheep investigated, variant B was linked to a reduction in clean fleece weight, while C was associated with an increase in both greasy fleece weight and clean fleece weight. No discernible effects on staple length or mean-fibre-diameter-related traits were observed. These findings suggest that variation in ovine KRT81 might influence wool growth by changing the density of wool follicles in the skin, the density of individual fibres, or the area of the skin producing fibre, as opposed to changing the rate of extrusion of fibres or their diameter.
Trace Elements Distribution in the k7 Seam of the Karaganda Coal Basin, Kazakhstan
Authors: Kopobayeva Aiman , Baidauletova Irina , Amangeldikyzy Altynay , Askarova Nazym
Published: May 2024

We investigated the distribution patterns and evaluated the average contents of trace elements in the k7 seam of the Karaganda coal basin in Central Kazakhstan. This paper presents the results of studying the geochemistry of 34 elements in 85 samples of the k7 seam. The study employed a suite of advanced high-resolution analytical methods, including atomic emission spectrometry with inductively coupled plasma (ICP–OES) and mass spectrometry with inductively coupled plasma (ICP–MS), along with their processing and interpretation. It was determined that the concentrations of trace elements in the k7 seam are primarily associated with lithophile elements, revealing high concentrations of Li, V, Sc, Zr, Hf, and Ba. Additionally, increased concentrations of Nb, Ta, Se, Te, Ag, and Th were observed compared to the coal Clarke. Specific Nb(Ta)–Zr(Hf)–Li mineralization accompanied by a group of associated metals (Ba, V, Sc, etc.) was identified. The study revealed lateral and vertical heterogeneity of the rare elements’ distributions in coals, attributed to the formation dynamics of the coal basin. A correlation between Li and Al2O3 with a less positive relationship with K2O suggests the affinity of certain elements (Li, Ta, Nb, and Ba) to kaolinite. Clay layers showed increased radioactivity, with Th—13.2 ppm and U—2.6 ppm, indicating the possible presence of volcanogenic pyroclastic rocks characterized by radioactivity. Taken together, these data reveal the features of the rock composition of the source area, which is considered a mineralization source. According to geochemical data, it was found that the source area mainly consists of igneous felsic rocks, indicating that the formation occurred under conditions of a volcanic arc. This study’s novelty lies in estimating the average trace elements in the k7 seam, with elevated concentrations of certain elements that suggest promising prospects for industrial extraction from coals and coal wastes. These findings offer insights into considering coal as a potential source of raw material for rare metal production, guiding the industrial processing of key elements within coal. The potential extraction of metals from coal deposits, including from dumps, holds significance for industrial and commercial technologies, as processing critical coal elements can reduce disposal costs and mitigate their environmental impact.
Absurdity in Medieval Literature? Der Stricker’s Pfaffe Amîs as a Transgressive Literary Enterprise Long before Modernity
Authors: Classen Albrecht
Published: May 2024

Although the concept of the Absurd seems to be characteristic only of modernity, especially since WWII, we face the intriguing opportunity to investigate its likely first emergence in the early thirteenth century in Der Stricker’s Pfaffe Amîs (ca. 1220). While the narrative framework insinuates that meaning and relevance continue to be the key components of the priest’s life, especially because he constantly seeks new sources of income for his own generosity and hospitality, his various victims increasingly face absurd situations and are abandoned even to the threat of insanity and death. The analysis of the verse narrative suggests that the protagonist begins to embrace crime and violence as the norm for his operations as a fake merchant. Thus, in some of the episodes of this famous Schwankbuch, elements of the absurd become visible, creating considerable irritation and frustration, if not horror and desperation, among the priest’s innocent victims.
The Impact of Music Therapy in a Pediatric Oncology Setting: An Italian Observational Network Study
Authors: Zanchi Barbara , Trevor-Briscoe Timothy , Sarti Pierfrancesco , Rivi Veronica , Bernini Lorenzo , Burnazzi Jenny , Ricci Bitti Pio Enrico , Abbado Alessandra , Rostagno Elena , Pession Andrea , Blom Johanna M. C. , Scarponi Dorella
Published: May 2024

Background: Music Therapy (MT) is a non-pharmacological, art-based intervention that employs music experiences within a therapeutic alliance to attend to clients’ physical, emotional, cognitive, and social requirements. This is the first study aiming at investigating the impact of MT on the psychological facets of children suffering from cancer. Methods: The study, combining the AQR and m-YPAS assessment tools, evaluated behavioral, sound–musical, and interactive parameters in pediatric oncology patients undergoing MT sessions during hospitalization. Fifty patients admitted to the Paediatric Oncology and Haematology Unit at Policlinico S. Orsola Hospital in Bologna, Italy, were enrolled, irrespective of their treatment regimen. Data collection occurred on the first day of the MT session between 3 p.m. and 5 p.m., with observations conducted by independent observers. In addition to traditional statistical analysis, network analysis was used to explore the combined interactions of all parameters, effectively discerning the distinctive roles played by each one during therapy sessions and their influence on all others. Results: Network analysis highlighted distinct patterns of interactions among parameters during the various sessions, emphasizing the role of positive emotions and a calm setting, the child’s ability to take the initiative in sessions, their sense of agency, and the parent’s role in guiding them. Significant differences were recorded at each time point between all variables considered. Conclusions: The results of this innovative study may pave the way for future multicenter studies aimed at further exploring the role of MT in children undergoing both curative and palliative treatments for cancer.
The Illness Perceptions and Coping Experiences of Patients with Colorectal Cancer and Their Spousal Caregivers: A Qualitative Study
Authors: Zhang Yi , Wang Ye , Li Rongyu , Sun Zheng , Li Qiuping
Published: May 2024

(1) Background: Illness perception (IP) is an important psychological construct for couples dealing with cancer, which impacts health outcomes and the psychological adjustment to cancer. More research is needed to explore the traits of IP and the efforts of couples coping with cancer. Thus, this study was designed to explore the coping experiences and features of the IPs of couples dealing with cancer. (2) Methods: A total of 24 patients with colorectal cancer (CRC) and 20 spousal caregivers (SCs) participated in semi-structured interviews. All interviews were recorded digitally, transcribed, and analyzed by using an inductive thematic analysis. (3) Results: Two themes (individualized and predominant IP; IP sharing and restructuring) were developed. A preliminary framework was formulated to illustrate the relations among subthemes and the relations between themes with an adjustment of a positive IP to CRC. In this framework, based on multiple sources and factors, the natural disparities formed the IPs of the partners of couples and determined the incongruence of IPs. The effects of IP incongruence on lives under the disease guided the three directions of coping approaches (i.e., information and available support, appropriate disclosure and reflection, and leaving the CRC diagnosis behind) which were adopted by couples dealing with CRC to share and restructure the IP with their spouses for effective dyadic coping. (4) Conclusions: This study provides insights to healthcare providers into the experiences of couples dealing with CRC and the development of couple-based IP intervention programs: (a) it initially provides adequate factual knowledge for enhancing beliefs in the ability to control illness, (b) encourages illness-centered conversations and disclosure regarding thoughts and emotions for promoting positive congruence of IP between the partners of couples dealing with a hard dilemma, and (c) guides couples to perceive positive changes and explore the illness’s meaning. Understanding each theme of personalized IP and adopting effective IP coping approaches can help guide couples dealing with CRC to efficiently promote constructive IP and better health outcomes.
Exploring the Health-Related Quality of Life and the Lived Experience of Adolescents Following Invasive Meningococcal Disease
Authors: McMillan Mark , McDonough Joshua , Angliss Margaret , Buttery Jim , Saunders Lynda , Mathew Suja M. , Shaw David , Gordon David , Warner Morgyn S. , Nelson Renjy , Hannah Rory , Marshall Helen S.
Published: May 2024

Background: Data on the health-related quality of life (HRQoL) for invasive meningococcal disease (IMD) survivors, particularly among adolescents and young adults (AYAs), are limited. This study aimed to investigate the in-depth experiences and impacts of IMD on AYAs. Methods: Participants were recruited from two Australian states, Victoria and South Australia. We conducted qualitative, semi-structured interviews with 30 patients diagnosed with IMD between 2016 and 2021. The interview transcripts were analyzed thematically. Results: Of the participants, 53% were aged 15–19 years old, and 47% were aged 20–24. The majority (70%) were female. Seven themes relating to the participants’ experience of IMD were identified: (1) underestimation of the initial symptoms and then rapid escalation of symptoms; (2) reliance on social support for emergency care access; (3) the symptoms prompting seeking medical care varied, with some key symptoms missed; (4) challenges in early medical diagnosis; (5) traumatic and life-changing experience; (6) a lingering impact on HRQoL; and (7) gaps in the continuity of care post-discharge. Conclusion: The themes raised by AYA IMD survivors identify multiple areas that can be addressed during their acute illness and recovery. Increasing awareness of meningococcal symptoms for AYAs may help reduce the time between the first symptoms and the first antibiotic dose, although this remains a challenging area for improvement. After the acute illness, conducting HRQoL assessments and providing multidisciplinary support will assist those who require more intensive and ongoing assistance during their recovery.
Multidimensional Study of the Attitude towards Euthanasia of Older Adults with Mixed Anxiety-Depressive Disorder
Authors: Fonseca Luís , Castro Luísa , Rêgo Guilhermina , Nunes Rui
Published: May 2024

Introduction: This study aims to verify if older adults with mixed anxiety-depressive disorder are more prone to euthanasia and identify factors that interfere with their satisfaction with health and capacity for well-informed decisions. Material and Methods: The study applied a paper questionnaire composed of a sociodemographic section and a battery of scales (to assess depression, anxiety, cognitive performance, suicide risk, therapeutic adhesion, functionality, loneliness, attitude towards euthanasia, decision pattern, personality, empathy, and health status) in the Psychogeriatric Unity of Senhora da Oliveira Hospital in Portugal. The sample was collected by convenience to include patients and controls of the same age. Six months later, a reassessment was performed. Patients and controls were compared using descriptive statistics and a multiple-regression model. Results: A total of 114 patients and 25 controls were included. Eighty-one point six percent of patients had four or fewer years of schooling. Contrary to controls, they presented mild depressive and anxiety symptoms, loneliness feelings, worse cognitive performance, a more fragile personality, higher personal distress, and a poorer health state. No statistically significant differences were found between controls and patients regarding their attitudes towards euthanasia. Patients more favourable to euthanasia had higher empathic concern, conscientiousness, and fantasy, and lower personal distress. Discussion and Conclusion: When addressing euthanasia in these patients, it is crucial to ensure they are fully self-determinate and that all the necessary treatment and support are available. It may not be the case when the educational level is low and a mild disease persists, significantly affecting their well-being and cognitive performance.