bluuebunny/crossref_metadata_2025_split huggingface dataset:
Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis
Authors: Apellaniz-Ruiz Maria , Sabbaghian Nelly , Chong Anne-Laure , de Kock Leanne , Cetinkaya Semra , Bayramoğlu Elvan , Dinjens Winand N. M. , McCluggage W. Glenn , Wagner Anja , Yilmaz Aslihan Arasli , Foulkes William D. 
Published: May 2023

AbstractDICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages. Germline pathogenic variants in DICER1 cause this condition. Detecting a variant of uncertain significance in DICER1 or finding uncommon phenotypes complicate the diagnosis and can negatively impact patient care. We present two unrelated patients suspected to have DICER1 syndrome. Both females (aged 13 and 15 years) presented with multinodular goiter (thyroid follicular nodular disease) and ovarian tumours. One was diagnosed with an ovarian Sertoli-Leydig cell tumour (SLCT) and the other, with an ovarian juvenile granulosa cell tumour, later reclassified as a retiform variant of SLCT. Genetic screening showed no germline pathogenic variants in DICER1. However, two potentially splicing variants were found, DICER1 c.5365-4A>G and c.5527+3A>G. Also, typical somatic DICER1 RNase IIIb hotspot mutations were detected in the thyroid and ovarian tissues. In silico splicing algorithms predicted altered splicing for both germline variants and skipping of exon 25 was confirmed by RNA assays for both variants. The reclassification of the ovarian tumour, leading to recognition of the association with DICER1 syndrome and the characterization of the germline intronic variants were all applied to recently described DICER1 variant classification rules. This ultimately resulted in confirmation of DICER1 syndrome in the two teenage girls.
What is a Complex System, After All?
Authors: Estrada Ernesto 
Published: May 2023

AbstractThe study of complex systems, although an interdisciplinary endeavor, is considered as an integrating part of physical sciences. Contrary to the historical fact that the field is already mature, it still lacks a clear and unambiguous definition of its main object of study. Here, I propose a definition of complex systems based on the conceptual clarifications made by Edgar Morin about the bidirectional non-separability of parts and whole produced by the nature of interactions. Then, a complex system is defined as the system where there is a bidirectional non-separability between the identities of the parts and the identity of the whole. Thus, not only the identity of the whole is determined by the constituent parts, but also the identity of the parts are determined by the whole due to the nature of their interactions. This concept allows, as shown in the paper, to derive some of the main properties that such systems must have as well as to propose its mathematical formalization.
Callous-Unemotional Traits in Adolescents' Daily Life: Associations with Affect and Emotional and Conduct Problems
Authors: Goulter Natalie , Cooke Eric M. , Zheng Yao 
Published: May 2023

AbstractIntensive longitudinal methods (e.g., daily diary) inform understanding of dynamic processes by parsing within-person state-like fluctuations from stable between-person trait-like differences. In this exploratory study, we investigated whether self-reported callous-unemotional (CU) traits (callousness, uncaring) demonstrated daily fluctuations, as well as whether daily CU traits were associated with multiple forms of daily emotional and behavioral functioning. A sample of 99 adolescents (55.8% female; Mage = 14.60 years) provided baseline information and completed a naturalistic 30-day diary reporting on CU traits, positive and negative affect, and emotional and conduct problems in their daily lives. Dynamic structural equation modeling revealed that many CU traits items showed within-person autoregressive and cross-lagged links; however, there was substantial between-person variation in within-person fluctuations across items. At the subscale level, cross-day associations were observed between callousness and uncaring, conduct problems and uncaring, positive affect and callousness, negative affect and emotional problems, and emotional problems and negative affect. By harnessing intensive longitudinal data, our findings provide preliminary state-level evidence of CU traits, as well as functional information with regards to CU traits and emotional and behavioral problems in daily life. We consider the implications of our findings in terms of informing future CU traits intensive longitudinal evaluations.
Participatory Methods to Engage Autistic People in the Design of Digital Technology: A Systematic Literature Review
Authors: Maun Rachael , Fabri Marc , Trevorrow Pip 
Published: May 2023

Abstract
Purpose
Many technology designers strive to involve end users in the design process, aiming to produce better outcomes. However, designers may struggle to engage autistic users effectively due to a lack of understanding of autistic characteristics and preferences. This systematic literature review aimed to identify how autistic adolescents and adults can best be engaged in effective participatory design activities.

Methods
Seven databases were searched for articles reporting technology design involving autistic people, returning 276 results. Using the PRISMA approach, 258 were excluded due to not meeting the inclusion criteria. The remaining 18 articles were then quality assessed.

Results
A thematic analysis revealed five core themes: (1) Engagement: the importance of investment in, and ownership of, the design process to create engagement, (2) Relationships: building relationships through collaboration and careful facilitation, (3) Skills development: the development of personal skills such as teamwork, design and self-advocacy in order to grow confidence, (4) Structure: providing context and structure to make the design experience feel safe and predictable, and (5) Support: the importance of support and consideration of individual needs as well as discouraging negative behaviours.

Conclusion
Valuing participants as equal partners in design emerged as an, arguably, universal principle. The specific needs and preferences of autistic people must be understood and respected by designers. This goes beyond obvious accommodations such as providing a quiet and safe environment, and requires a deeper, more personal engagement with the individuals and their interests. We provide tangible recommendations for increasing engagement and aiding the design process.
Collaborative robots in manufacturing and assembly systems: literature review and future research agenda
Authors: Keshvarparast Ali , Battini Daria , Battaia Olga , Pirayesh Amir 
Published: May 2023

AbstractNowadays, considering the constant changes in customers’ demands, manufacturing systems tend to move more and more towards customization while ensuring the expected reactivity. In addition, more attention is given to the human factors to, on the one hand, create opportunities for improving the work conditions such as safety and, on the other hand, reduce the risks brought by new technologies such as job cannibalization. Meanwhile, Industry 4.0 offers new ways to facilitate this change by enhancing human–machine interactions using Collaborative Robots (Cobots). Recent research studies have shown that cobots may bring numerous advantages to manufacturing systems, especially by improving their flexibility. This research investigates the impacts of the integration of cobots in the context of assembly and disassembly lines. For this purpose, a Systematic Literature Review (SLR) is performed. The existing contributions are classified on the basis of the subject of study, methodology, methodology, performance criteria, and type of Human-Cobot collaboration. Managerial insights are provided, and research perspectives are discussed.
A Primal-Dual Finite Element Method for Scalar and Vectorial Total Variation Minimization
Authors: Hilb Stephan , Langer Andreas , Alkämper Martin 
Published: May 2023

AbstractBased on the Fenchel duality we build a primal-dual framework for minimizing a general functional consisting of a combined$$L^1$$L1and$$L^2$$L2data-fidelity term and a scalar or vectorial total variation regularisation term. The minimization is performed over the space of functions of bounded variations and appropriate discrete subspaces. We analyze the existence and uniqueness of solutions of the respective minimization problems. For computing a numerical solution we derive a semi-smooth Newton method on finite element spaces and highlight applications in denoising, inpainting and optical flow estimation.
Training for Supervisors to Improve Sustainable Employment of Employees with a work Disability: A Longitudinal Effect and Process Evaluation from an Intervention Study with Matched Controls
Authors: Schaap Rosanne , Coenen Pieter , Zwinkels Wim , de Wolff Marianne , Hazelzet Astrid , Anema Johannes 
Published: May 2023

Abstract
Purpose
Supervisors play a crucial role in sustainable employment of employees with a work disability. The ‘Mentorwijs’ (literal translation: Mentorwise) training was developed to train supervisors in knowledge, attitudes and skills needed to guide these employees. This study evaluated the effect of ‘Mentorwijs’ on employees’ employment and supervisors’ behavioral outcomes.

Methods
Register- and questionnaire data were obtained from 73 employees and 1,526 matched controls to measure employment (≥ 1/month, ≥ 12 h/week and ≥ 3 consecutive months (≥ 1 h/month)) during a 12-month follow-up period. Questionnaire data were obtained from 127 supervisors who followed the ‘Mentorwijs’ training, to assess their knowledge, self-efficacy, intention to adopt and applied behaviors.

Results
Employment for ≥ 1 h/month did not significantly improve after 3 (β = 0.05; CI=-0.07-0.16), 6 (β = 0.07; CI=-0.04-0.18), 9 (β = 0.08; CI=-0.02-0.18) and 12 (β = 0.01; CI=-0.08-0.10) months among employees whose supervisors followed ‘Mentorwijs’ compared to those who did not. Significant effects were found after 8 months (β = 0.11; CI = 0.01–0.21). Comparable effects were found for employment ≥ 12 hour/week and ≥ 3 consecutive months (≥ 1 hour/month). Supervisors’ knowledge and self-efficacy significantly improved as a result of ‘Mentorwijs’, but no effects were found for intention to adopt and applied behaviors.

Conclusions
‘Mentorwijs’ is a promising training to improve the guidance of employees with a work disability. Further research is needed to examine how long-term effects of ‘Mentorwijs’ on employment can be sustained.
Thermal properties of spark plasma sintered Inconel 625 modified by titanium zirconium mixed carbide
Authors: Rutkowski Paweł , Huebner Jan , Graboś Adrian , Kata D. , Pasiut Katarzyna , Handke Bartosz , Nieroda Paweł 
Published: May 2023

AbstractNickel-based superalloys are an important group of advanced engineering materials used for high-temperature and/or corrosive environments. Lately, in order to improve their mechanical properties, carbide reinforcement is added to a metal matrix, creating composites of improved hardness, shear resistance, or tensile resistance. In order to preserve the wide applicability of those materials, thermal properties, and corrosion resistance must also be evaluated. Presented research evaluated the thermal properties of Inconel 625—(Ti,Zr)C0.85 composites obtained at 1000 °C by spark plasma sintering process. Sinters containing 5–20 mass% of carbide phases were initially characterized in terms of their density, phase composition, and microstructure. A thorough examination of their thermal properties included: dilatometry, laser flash analysis, and differential scanning calorimetry. Conducted experiments revealed that a growing amount of carbide reinforcement decreased the thermal diffusivity and conductivity of samples. Other materials had a nonlinear correlation with that parameter. Performed analysis allowed to make an initial evaluation of oxidation resistance at 800 °C. It was shown that above 5 mass% addition of (Ti,Zr)C0.85 there is a considerable mass gain change shown by samples during the first hour of oxidation before passive layers were created. Suitable chemical reactions were predicted in order to describe the oxidation process of obtained composites.
Big Science, Big Trouble? Understanding Conflict in and Around Big Science Projects and Networks
Authors: Rüland Anna-Lena 
Published: May 2023

AbstractMany Big Science projects and networks experience conflict. A plethora of disciplines have examined conflict causes in science collaboration and Big Science, contributing to a more nuanced understanding of why conflicts emerge. Yet, so far, there is no theoretical model that explains which mechanisms connect conflict cause and outbreak in Big Science. Drawing on interdisciplinary literature on science collaboration and Big Science as well as on scholarship on strategic action fields (SAFs), I address this blind spot by proposing a model that outlines which mechanisms induce and fuel conflict in Big Science projects and networks. Five interlinked mechanisms – attribution of threat or opportunity, mobilization of resources, coalition-building, boundary deactivation and innovative action – are central to it. Tracing these mechanisms in conflictual episodes which emerged in three typical, yet most-different, Big Science cases – the International Experimental Thermonuclear Reactor (ITER), the Human Brain Project (HBP) and the Thirty Meter Telescope (TMT) – this study also provides a proof of concept for the model.
Two-sample test for ambivalent subset relationship in fuzzy set qualitative comparative analysis
Authors: Veri Francesco 
Published: May 2023

AbstractIn fuzzy set qualitative comparative analysis (fsQCA), ambivalent subset relationships (ASR), occur when solution term X is in subset relation with the outcome Y and its absence ~ Y, leading to false-positive results. While ASR can be empirically detected in small-N and medium-N cases through in-depth case knowledge, it is challenging to identify them in large-N case designs. QCA parameters such as proportion reduction inconsistency (PRI) and consistency are commonly used to identify simultaneous subset relationships (SSR), but they are not specifically designed to detect ASR. To address this issue, this article introduces the DTS test, a new test based on two-sample statistics. The DTS test identifies distributional convergence between a solution term’s empirical cumulative distribution function (eCDF) and an eCDF of solution formulas with asymptotic ASR characteristics. By comparing empirical solutions’ patterns with spurious artificially built solutions' patterns, the DTS test reduces the risk of causal fallacies in interpreting the empirical results. Overall, the DTS test provides a valuable tool for identifying and addressing potential ASR bias in fsQCA, particularly in large-N case designs.
Mental health-related quality of life in mothers of children with surgically repaired congenital heart disease: a 13-year longitudinal study
Authors: Ehrler Melanie , Wettach Corina , Beck Ingrid , Valsangiacomo Buechel Emanuela R. , Latal Beatrice , Landolt Markus A. 
Published: May 2023

Abstract
Aims
Having a child with congenital heart disease (CHD) can affect parental health-related quality of life (HR-QoL). We investigated the long-term trajectories of mental HRQoL (m-HRQoL) in mothers of children with CHD and examined risk factors for persistent low m-HRQoL.

Methods
One hundred twenty-five mothers of children with CHD completed a standardized questionnaire on m-HRQoL (mental subscale SF-12) after the children’s first open-heart surgery and subsequently when the children were 1, 4, 6, 10, and 13 years old. A z-score for m-HRQoL was calculated with national norms. Latent class growth analysis (LCGA) was used to identify subgroups of mothers with regards to their m-HRQoL trajectories over time. Regression analysis investigated predictors for chronically low m-HRQoL.

Results
Compared to norms, mothers of children with CHD had significantly lower m-HRQoL immediately after open-heart surgery (β = −0.30 (CI-95: −0.44, −0.15)). Subsequently, m-HRQoL increased to a normal level (m-HRQoL compared to the norm from 1 to 13 years: β ranges between 0.05 and 0.27). LCGA revealed two distinct groups of m-HRQoL trajectories: A group with normal m-HRQoL (75% of mothers, means z-scores range between − 0.76 and 0.62) and a group with chronically low m-HRQoL (25% of mothers, mean z-scores range between −1.32 and −0.10). Chronically, low m-HRQoL was associated with poorer social support (OR = 3.39 (CI-95: 1.40, 8.49), p = 0.008) but not with parental education, migration background, number of open-heart surgeries, diagnosis of a univentricular CHD, or low IQ.

Conclusion
A quarter of mothers of children with CHD have chronically low m-HRQoL throughout their child’s development, especially those mothers with poor social support. Further studies of family-oriented approaches are needed to identify and support these mothers and reinforce parental well-being.
Spatiotemporal variation in water availability drives insect community dynamics in an urban riparian zone
Authors: Bonfoey Alyssa , Padda Sugjit Singh , Stahlschmidt Zachary 
Published: May 2023

AbstractWater bodies can mitigate urban heat island effects and allow terrestrial animals to access water during periods of insufficient precipitation. Because precipitation is expected to become increasingly scarce in many global regions, urban riparian areas in drylands may yield important insight into the dynamic role of water in terrestrial animal communities. Here, we first investigated the role of spatiotemporal variability in water availability in insect biomass and biodiversity in an urban riparian area—particularly, whether seasonality modulates the spatial effects of water availability. High water availability was characterized spatially by proximity to a river, and temporally by high-precipitation seasons. Second, we investigated whether the relationship between biomass and biodiversity shifts due to variation in water availability. We determined the biomass and biodiversity of an insect community across a riparian zone in Stockton, CA, USA, an urban drylands area characterized by hot, dry summers and cool, wet winters. Time (seasonality exhibiting dramatic variation in precipitation) exerted strong effects on ecological indices and a biodiversity-biomass relationship. Space (proximity to a fixed water source) had more modest effects on the community, and there was some evidence that space and time modulated the effects of one another on the community. Urban animal community dynamics may be more sensitive to larger-scale climate patterns than to local, landscape-level factors, and covariation between biomass and biodiversity may be influenced by resource (water) availability. Studying insect communities in the riparian zones of urban drylands may be critical to understanding how animal communities respond to a warmer, drier climate.
Brief report first report of the in vitro ovicidal activity of camel milk and its fractions on zoonotic-liver fluke (Fasciola gigantica) eggs
Authors: Awad Dina A.B. , Eldiarby Amany S. , Abdallah Mona , Hamad Ahmed , Gawad Samah M. Abdel 
Published: May 2023

AbstractFasciola gigantica is one of the worldwide parasites that cause livestock and human illnesses. Chemotherapy is now the primary therapeutic option for its treatment. Drug abuse has led to the emergence of drug-resistant strains. As a result, there is an urgent need to discover natural and efficient anthelmintics against Fasciola spp. The study aims to evaluate the ovicidal activities of camel milk and its fractions on F. gigantica eggs. In the in vitro assay of F. gigantica eggs were submitted to different concentrations (0.5% and 1%) of camel milk fractions; Camel Milk Whey (CMW), Camel Milk Casein (CMC), and Skimmed Camel Milk (SCM) as well as a positive control (PC) of Nitroxynil (100 mg/ml) and a negative control (NC) with physiological saline. The Egg Hatching Assay (EHA) results showed that camel milk fractions exhibited ovicidal activity, especially CMW, and CMC, which showed 97.58 ± 0.58 and 96.9 ± 1.99 ovicidal activity, respectively, at a concentration of 1% after 15 days of treatment compared to PC, which exhibited 91.75 ± 4.95 ovicidal activity. The egg hatching ratios were 1.67% and 2.33% for CMW and CMC, respectively, compared to 70.17% for the NC and 6% for the PC. The LC50 values for CMW and CMC on the 15th day of treatment were 0.20 and 9.13, respectively. From the results above, we can infer that camel milk and its fractions are promising as a new alternative for fascioliasis control.
A stepwise approach for Scenario-based Inventory Modelling for Prospective LCA (SIMPL)
Authors: Langkau Sabine , Steubing Bernhard , Mutel Christopher , Ajie Maulana Permana , Erdmann Lorenz , Voglhuber-Slavinsky Ariane , Janssen Matty 
Published: May 2023

Abstract

Purpose
In prospective life cycle assessment (pLCA), inventory models represent a future state of a production system and therefore contain assumptions about future developments. Scientific quality should be ensured by using foresight methods for handling these future assumptions during inventory modelling. We present a stepwise approach for integrating future scenario development into inventory modelling for pLCA studies.

Methods
A transdisciplinary research method was used to develop the SIMPL approach for scenario-based inventory modelling for pLCA. Our interdisciplinary team of LCA and future scenario experts developed a first draft of the approach. Afterwards, 112 LCA practitioners tested the approach on prospective case studies in group work projects in three courses on pLCA. Lessons learned from application difficulties, misunderstandings and feedback were used to adapt the approach after each course. After the third course, reflection, discussion and in-depth application to case studies were used to solve the remaining problems of the approach. Ongoing courses and this article are intended to bring the approach into a broader application.

Results and discussion
The SIMPL approach comprises adaptations and additions to the LCA goal and scope phase necessary for prospective inventory modelling, particularly the prospective definition of scope items in reference to a time horizon. Moreover, three iterative steps for combined inventory modelling and scenario development are incorporated into the inventory phase. Step A covers the identification of relevant inventory parameters and key factors, as well as their interrelations. In step B, future assumptions are made, by either adopting them from existing scenarios or deriving them from the available information, in particular by integrating expert and stakeholder knowledge. Step C addresses the combination of assumptions into consistent scenarios using cross-consistency assessment and distinctness-based selection. Several iterations of steps A–C deliver the final inventory models.

Conclusion
The presented approach enables pLCA practitioners to systematically integrate future scenario development into inventory modelling. It helps organize possible future developments of a technology, product or service system, also with regard to future developments in the social, economic and technical environment of the technology. Its application helps to overcome implicit bias and ensures that the resulting assessments are consistent, transparently documented and useful for drawing practically relevant conclusions. The approach is also readily applicable by LCA practitioners and covers all steps of prospective inventory modelling.