bluuebunny/crossref_metadata_2025_split huggingface dataset:
Short report: Twins with 20p13 duplication. Case report and comprehensive literature review
Authors: Kennedy Benjamin J. , Savage Sarah K. , Kaler Stephen G. 
Published: May 2024

AbstractBackgroundTrisomy 20p is a rare genetic condition caused by a duplication of the short arm of chromosome 20.MethodsWe employed clinical observation and molecular genetic testing (SNP microarray), to study identical twin males with an unknown dysmorphic syndrome. We conducted a literature review of trisomy 20p and collated the clinical and molecular genetic findings on 20 affected subjects reported since 2000.ResultsIdentical twin males, whose prenatal course was complicated by a twin‐to‐twin transfusion, manifested profound language and neurocognitive delays as well as distinctive facial dysmorphisms when evaluated at 2 years of age. SNP microarray identified identical duplications of 20p13 with no other chromosomal aberrations. A literature survey of 20p trisomy syndrome identified 20 other examples of this condition reported since 2000, which we collated with 33 summarized by Sidwell et al. (2000). Within the combined total of 55 affected individuals, we found a distinctive clinical phenotype that provides insight on the effects of abnormal dosage of genes in 20p13. These loci include FAM110A (OMIM 611393), ANGPT4 (OMIM 603705), RSPO4 (OMIM 610573), PSMF1 (OMIM 617858), SNPH (OMIM 604942), SDCBP2 (OMIM 617358), FKBP1A (OMIM 186945), TMEM74B, C20orf202, and RAD21L1 (OMIM 619533). Gene profiling highlighted that syntaphilin (SNPH) is highly expressed in mammalian brain, where it is considered critical for mitochondrial transport in neuronal axons, and to directly influence axonal morphogenesis and function.ConclusionWe propose that abnormal activity of syntaphilin engendered by the trisomy is primarily responsible for the language, neurocognitive, and gross motor delays reported in individuals with 20p trisomy. Additional studies, for example, characterization of cerebral organoids generated from affected patients may help to better understand this condition, and potentially suggest rational remedies to improve the lives of affected individuals and their families.
Language impairment in sporadic and familial (type 8) amyotrophic lateral sclerosis: A comparative study
Authors: de Araújo Caroline M. , de Alcântara Cássia , Alencar Mariana A. , da Gama Natália A. S. , Cruzeiro Marcelo M. , França Marcondes C. , Jaeger Antônio , Camargos Sarah T. , Machado Thais H. , de Souza Leonardo Cruz 
Published: May 2024

AbstractIntroduction/AimsLanguage is frequently affected in patients with sporadic amyotrophic lateral sclerosis (sALS), with reduced performance in naming, syntactic comprehension, grammatical expression, and orthographic processing. However, the language profile of patients with familial type 8 ALS (ALS8), linked to p.P56S VAPB mutation, remains unclear. We investigated language in patients with ALS8 by examining their auditory comprehension and verbal production.MethodsWe included three groups of participants: (1) patients with sALS (n = 20), (2) patients with familial ALS8 (n = 22), and (3) healthy controls (n = 21). The groups were matched for age, sex, and education level. All participants underwent a comprehensive language battery, including the Boston Diagnostic Aphasia Examination, the reduced Token test, letter fluency, categorical fluency (animals), word definition from the Cambridge Semantic Memory Research Battery, and a narrative discourse analysis. Participants also were evaluated using Addenbrooke's Cognitive Exam‐Revised Version, the Hospital Anxiety and Depression Scale, and the ALS Functional Rating Scale‐Revised.ResultsCompared to controls, sALS and ALS8 patients had impaired performance on oral (syntactic and phonological processing) comprehension and inappropriate discourse cohesion. sALS and ALS8 did not differ in any language measure. There was no correlation between language scores and functional and psychiatric scales.DiscussionALS8 patients exhibit language deficits that are independent of motor features. These findings are consistent with the current evidence suggesting that ALS8 has prominent non‐motor features.
Ion solvation in atomic baths: From snowballs to polarons
Authors: Chowdhury Saajid , Perez‐Ríos Jesús 
Published: May 2024

AbstractSolvation, the result of the complicated interplay between solvent–solute and solvent–internal interactions, is one of the most important chemical processes. Consequently, a complete theoretical understanding of solvation seems like a heroic task. However, it is possible to elucidate fundamental solvation mechanisms by looking into simpler systems, such as ion solvation in atomic baths. In this work, we study ion solvation by calculating the ground state properties of a single ion in a neutral bath from the high‐density to the low‐density regimes, finding common ground for these two, in principle, disparate regimes. Our results indicate that a single 174Yb+ ion in a bath of 7Li atoms forms a coordination complex at high densities with a coordination number of 8, with strong electrostriction characteristic of the snowball effect. On the contrary, treating the atomic bath as a dilute quantum gas at low densities, we find that the ion‐atom interaction's short‐range plays a significant role in the physics of many‐body‐bound states and polarons. Furthermore, in this regime, we explore the role of an ion trap necessary to experimentally realize this system, which drastically affects the binding mechanism of the ion and atoms from a quantum gas. Therefore, our results give a novel insight into the universality of ion‐neutral systems in the ultracold regime and the possibilities of observing exotic many‐body effects.Keypoints
A global study of ion solvation in atomic baths from the high‐ to the low‐density regimes.
The ion–atom short‐range interaction is critical to understanding the presence of many‐body‐bound states and polarons.
The ion‐trapping potential drastically impacts many‐body‐bound states and polaron formation.
Hearing Loss and Reduced Income Growth: A Longitudinal Socioeconomic Analysis
Authors: Denham Michael W. , Tucker Lauren H. , Gorroochurn Prakash , Golub Justin S. 
Published: May 2024

AbstractObjectiveHearing loss (HL) has been linked to negative socioeconomic states, including low income. This study examines the relationship between HL and income growth.Study DesignLongitudinal observational study.SettingMulticentered US epidemiologic study (Hispanic Community Health Study, HCHS).MethodsUsing data from 2 waves of the HCHS, we analyzed the association between HL and income growth in adults ages 18 to 74 years using generalized estimating equations. The exposure was HL, measured by 4‐frequency pure‐tone average (PTA). The outcome was yearly household income growth, with income graded on a 10‐bracket scale from <$10,000 to >$100,000. Models controlled for demographics, hearing aid use, and vascular risk.ResultsA total of 1342 participants met inclusion criteria. At visit 1, average age was 47.6 years (SD = 12.2), and average PTA was 13.9 decibels (dB, SD = 9.5). Average follow‐up was 5.9 years (SD = 0.6). There was a significant time × HL interaction: with each 10 dB worsening in HL, the odds of belonging to a higher versus a lower income bracket changed by a factor of 0.979 (P < .001) between waves 1 and 2. In other words, the odds of belonging to a higher income group decreased with worsening HL. At 38.6 dB, the odds for income growth became <1, indicating income loss rather than growth.ConclusionIncreased HL is associated with reduced income growth, including the possibility of negative growth (ie, income decline). This study emphasizes the value of including socioeconomic measures in randomized controlled trials assessing the impact of HL treatment and the importance of extended follow‐up for study participants.
A Comparison of Drug‐Induced Sleep Endoscopy Findings in Infants and Toddlers
Authors: Ma Alison C. , Rosi‐Schumacher Mattie , DiNardo Lauren A. , Corbin Alexandra F. , Carr Michele M. 
Published: May 2024

AbstractObjectiveTo compare patterns of obstruction in infants and toddlers with obstructive sleep apnea (OSA) by analyzing drug‐induced sleep endoscopy (DISE) examinations.Study DesignRetrospective chart review.SettingAn academic tertiary care pediatric hospital at a single institution.MethodsChildren aged ≤3 years who underwent DISE with propofol titration from 2020 to 2022 were included in the study. Data extracted included age, body mass index, comorbidities, and polysomnography parameters. The sites of anatomic obstruction during DISE were recorded using a validated 10‐site scoring system.ResultsA total of 86 children underwent DISE, including 15 infants (<1 year) and 71 toddlers (>1≤3 years). Sixty‐two percent were male and 37% were female. The mean age of the infant group was 9.6 months (95% confidence interval [CI]: 7.92, 11.28 months), and the mean age of the toddler group was 2.3 years (95% CI: 2.06, 2.50 years). The mean total number of sites of obstruction was not significantly different between infants (N = 2.5) and toddlers (N = 3.2, P = .086). The most common subsite of significant obstruction in both infants and toddlers was the aryepiglottic folds (46.7% and 36.8%, respectively; P = .578). The sites of obstruction and frequency of their occurrence were not significantly different between the 2 groups.ConclusionMultisite airway obstruction is common among children with OSA, especially at the epiglottis, aryepiglottic folds, and tongue base. There is no difference in sites of obstruction and their frequency between toddlers and infants.
Mechanical recycling process: An alternative for a viable disposal of carbon fiber‐reinforced thermoplastic waste
Authors: de Oliveira Ingrid Christiny Lima , Montagna Larissa Stieven , dos Anjos Erick Gabriel Ribeiro , Marini Juliano , Passador Fabio Roberto 
Published: May 2024

AbstractConcern for the environment has increased the interest of the automotive and aerospace industries in evaluating the feasibility of mechanical recycling of waste carbon‐fiber‐reinforced polymer composites (CFRP) and waste from protective films used during the transport and storage of thermosetting composites, which are removed and discarded during manufacturing. Therefore, this work aimed to develop a recyclable composite from protective film waste by incorporating carbon fiber/poly(aryl ether ketone) (CF/PAEK) composite particles obtained through grinding in knife mills, followed by an analysis of the particle size distribution. Protective film residues (PEres) were cut to facilitate processing. A mixture of low‐density polyethylene and PEres (50/50) was used as the composite matrix, and 5, 10, 15, and 20 wt% CF/PAEK composite particles were added as the reinforcing agents. Then, these recycled composites were prepared by melt mixing using a twin‐screw extruder and injection molding to obtain standardized samples. Mechanical, thermal, electrical, and electromagnetic properties were evaluated. It was possible to observe that the increase in the addition of CF/PAEK composite particles contributed to a 290% increase in elastic modulus values and a 9.1% increase in Shore D hardness, electrical conductivity, and attenuation of the electromagnetic wave. Furthermore, satisfactory adhesion between filler and matrix contributed to a good interface and reinforcement of the final material.Highlights
Mechanical recycling by extrusion of waste from the automotive and aerospace sectors
Grinding of carbon fiber/poly(aryl ether ketone) composite waste to be used as filler
Protective film waste used as matrix
Composites developed with waste with good electrical and electromagnetic properties
The addition of thermoplastic composite residues does not affect thermal and mechanical properties
Thermal‐mechanical properties of bamboo charcoal/recycled low‐density polyethylene composites
Authors: Liew Fui Kiew , Tan Cindy Soo Yun , Liew Yit Lian , Chang Robin Yee Hui , Phang Tze Shing , Hamdan Sinin 
Published: May 2024

AbstractBamboo fiber has garnered considerable attention owing to its high specific strength and renewability. However, the hydrophilic nature of the material must be carefully managed to create a bamboo composite with usable thermal‐mechanical properties. Herein, the NaOH‐treated bamboo fiber (particle size ≤200 μm) was used to produce bamboo charcoal (BC). Then, recycled low‐density polyethylene containing BC composites was fabricated by varying the BC composition (between 2 and 8 wt%). Effects of different BC wt% in the BC/recycled low‐density polyethylene composites (denoted as xBCPE, where x indicates BC wt% in the composites) were analyzed for tensile strength, morphology, and thermal properties. In addition, the water absorption capacities of the BCPE composites were compared. These xBCPE composites showed excellent thermal stability and low water absorption properties. Therefore, they are potential candidate materials for electrical device packaging with partial degradability.Highlights
Bamboo charcoal (BC) was prepared via low‐temperature pyrolysis of alkaline‐treated bamboo fiber.
BC displayed strong interfacial interaction with recycled low‐density polyethylene.
Proportion of BC on the composite properties was investigated and furnished.
The xBCPE composites demonstrate low water absorption and excellent thermal stability.
The reinforced composite (4BCPE) shows great promise as a functional material.
Learning Lyapunov terminal costs from data for complexity reduction in nonlinear model predictive control
Authors: Abdufattokhov Shokhjakhon , Zanon Mario , Bemporad Alberto 
Published: May 2024

AbstractA classic way to design a nonlinear model predictive control (NMPC) scheme with guaranteed stability is to incorporate a terminal cost and a terminal constraint into the problem formulation. While a long prediction horizon is often desirable to obtain a large domain of attraction and good closed‐loop performance, the related computational burden can hinder its real‐time deployment. In this article, we propose an NMPC scheme with prediction horizon and no terminal constraint to drastically decrease the numerical complexity without significantly impacting closed‐loop stability and performance. This is attained by constructing a suitable terminal cost from data that estimates the cost‐to‐go of a given NMPC scheme with long prediction horizon. We demonstrate the advantages of the proposed control scheme in two benchmark control problems.
Seismic vulnerability analysis of a high‐rise steel frame structure equipped with novel displacement‐amplified viscoelastic dampers
Authors: Ye Mao , Yang Linyi , He Yinghou , Li Weihao 
Published: May 2024

SummaryThe energy dissipation capacity of conventional viscoelastic dampers (VEDs) cannot be fully exerted due to the relatively small inter‐story displacement of building structures. Thus, a novel VED with a displacement amplification mechanism based on the lever principle is developed in this study to achieve small displacement but high energy dissipation ability. First, the structural layout of an amplified viscoelastic damper (AVED) system is briefly introduced, and then the displacement amplification effect is described in detail. According to the working principle of the AVED and the relationship of force and geometric displacement in an actual frame structure, the restoring force theoretical formula of the corresponding amplified damper is derived. Based on the restoring force of the AVED and in combination with the secondary development function of the ABAQUS unit, a VUEL subroutine suitable for the explicit algorithm is programmed with the FORTRAN language. Then, the correctness of the subroutine is verified through a comparative analysis of the ABAQUS simulation and theoretically calculated results. Consequently, the vulnerability analysis of a high‐rise steel frame structure is conducted by using the incremental dynamic analysis (IDA) method, and the influence of the AVED on the seismic performance of the steel frame structure is quantitatively analyzed from the perspective of probability statistics. The analysis results show that compared with the VED structure, the failure probability of the AVED‐2 and AVED‐3 structures reaching the ultimate failure state at all levels is reduced by approximately 43% and 57%, respectively, and the collapse margin ratio (CMR) of structures under large earthquakes is increased by approximately 35% and 68%, respectively. This indicates that the AVED structures with displacement‐amplified dampers have a better effect on the seismic stability of tall steel frame structures under random seismic excitations. This study aims to provide comprehensive information for the seismic‐resistant design of tall buildings in earthquake‐prone regions.
Expanding Horizons: Fostering Creativity and Curiosity through Spherical Video‐Based Virtual Reality in Project‐Based Language Learning
Authors: Sun Joo Chung , Lee Jin Choi 
Published: May 2024

AbstractThe aim of this study is to explore how the creation of spherical video‐based virtual reality (SVVR) influences students' creativity and curiosity in project‐based language learning (PBLL). Technology is widely used in various instructional contexts, and due to increasing interest in VR technologies, the current study investigated how SVVR technology in PBLL might influence students' self‐assessment of creativity and curiosity. Twenty‐seven students participated in an SVVR‐enhanced PBL course and were asked to complete two questionnaires on creativity and curiosity. Data from students' reflective journals and teacher notes were also analyzed to investigate implementations for using SVVR in language learning. The findings showed that students' self‐assessment of their levels of creativity and curiosity demonstrated statistically significant development. The findings from qualitative data analysis identified English language competence as a factor that could have influenced students' performance during the course. The findings support the potential for SVVR in PBLL for motivating students to embrace new ideas and perspectives while participating in authentic problem‐solving activities.
English Desires at an English‐Medium Instruction University: The Journeys of First‐Year Students in Hong Kong
Authors: Jarvis Andrew 
Published: May 2024

AbstractThis study used the concept of desire in language learning to explore the first‐year English journeys of undergraduates at an English‐medium instruction (EMI) university in Hong Kong. Desire in language learning is an underexplored area in EMI research but a relevant concept for gaining a multilayered picture of the incentives and pressures of English. Using a collaborative research design, the study offers an account of 10 first‐year students with an IELTS band of approximately 5.5, lower than the institution's average. Thirty written reflections and 30 semi‐structured interviews formed the main data collection, gathered over the academic year. Thematic analysis showed that the learners desired more connection and confidence with English so that they could access academic and professional opportunities and identities. They desired a new English experience in which they could interact authentically and gain acceptance of their English skills. They encountered pressure and frustration with the EMI experience, ultimately making compromises in their imagined trajectories with English. Their strong desires for English, however, remained intact. The study shows the need for a well‐architected English experience for universities to fulfill the promises of EMI, especially for learners in the lower bands of English proficiency expected for EMI study.
PUM2 promoted osteoarthritis progression through PTEN‐mediated chondrocyte ferroptosis by facilitating NEDD4 mRNA degradation
Authors: Meng Yu , Chen Li , Chai Yuxia , Meng Weili , Yang Guohui , Ren Jia , Li Hongshuai , Qi Peiyi , Chen Juwu , Wang Nan 
Published: May 2024

AbstractOsteoarthritis (OA) is a prevalent degenerative joint disease with a lack of effective therapeutic. Chondrocyte ferroptosis contributes to the progression of OA. PUM2 is shown to exacerbate ischemia–reperfusion‐induced neuroinflammation by promoting ferroptosis, but its role in OA remains unexplored. Here, primary mouse chondrocytes were stimulated with IL‐1β to mimic OA chondrocyte injury in vitro. And PUM2 was upregulated in OA cartilage tissues and IL‐1β‐induced chondrocytes. Silencing PUM2 alleviated IL‐1β‐induced chondrocyte inflammation and ECM degradation. Mechanistically, PUM2 facilitated the degradation of NEDD4 mRNA by binding to the 3′UTR of NEDD4 mRNA, which in turn inhibited NEDD4 induced PTEN ubiquitination and degradation. Consistently, NEDD4 silencing reversed the ameliorative effect of PUM2 knockdown on chondrocyte injury, and overexpression of PTEN abolished the improved role of NEDD4 in chondrocyte injury. Moreover, PTEN aggravated IL‐1β‐induced ferroptosis in chondrocytes through the Nrf2/HO‐1 pathway by increasing the levels of Fe2+, ROS, MDA, and ACSL4 protein, decreasing the activity of SOD and the levels of GSH and GPX4 protein, and aggravating mitochondrial damage. Additionally, destabilized medial meniscus (DMM) were conducted to establish the OA mouse model, and adenovirus‐mediated PUM2 shRNA was administered intra‐articularly. Silencing PUM2 attenuated OA‐induced cartilage damage in vivo. In conclusion, PUM2 promoted OA progression through PTEN‐mediated chondrocyte ferroptosis by facilitating NEDD4 mRNA degradation.
Criminal Law and Children’s Access to Barnahus Services
Authors: Andersson Malou , Kaldal Anna 
Published: May 2024

AbstractThe aim of Barnahus is to provide children who are victims of violence and abuse with support, protection, and access to justice. In the Swedish Barnahus model, the target group is defined by what constitutes a criminal act. In this chapter, we explore the significance of this definition in relation to the United Nations Convention on the Rights of the Child (UN-CRC), using Sweden as an example. We argue that the close link between the definition of the target group and criminal law may exclude children who have been subjected to violence and abuse from gaining access to Barnahus’s services, which might conflict with children’s rights according to the UN-CRC. We apply a children’s rights perspective in this study, based on the standpoint that Barnahus is an outflow of a child’s rights to protection from all forms of violence and abuse, according to the UN-CRC.
Institutional Barriers to Medical Examinations in Barnahus
Authors: Stefansen Kari , Bakketeig Elisiv , Johansson Susanna 
Published: May 2024

AbstractAlthough ensuring that victimised children receive timely medical health assessments is among the key aims of Barnahus, this goal has proven difficult to achieve in Norway, the empirical case examined in this chapter. Few children are offered a medical examination, and most examinations that are performed primarily serve a role in the “penal track” of the Barnahus model. Based on data from two national evaluation studies, we identify three types of institutional barriers that hamper the role of medical examinations in the “welfare track” of the model: established routines, regulatory issues, and a lack of resources. The concept of institutional inertia is helpful in understanding the institutional resistance towards change that often characterises the present situation.