bluuebunny/crossref_metadata_2025_split huggingface dataset:
CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Authors: Contrò Gianluca , Baroni Maria Chiara , Caraffi Stefano Giuseppe , Napoli Manuela , Artuso Rosangela , Giliberti Annarita , Bargiacchi Sara , Mancano Giorgia , Traficante Giovanna , Mucciolo Mafalda , Radio Francesca Clementina , Cordeddu Viviana , Mancini Cecilia , Bottillo Irene , Pirro Federica Anna , Bonati Maria Teresa , Becker Cord‐Christian , Carli Diana , Mussa Alessandro , Gonzalez Maria Isis Atallah , Ruiz‐Arana Inge Lore , Kumps Camille , Maystadt Isabelle , Moortgat Stephanie , Peker Alp , Piccione Maria , Grammatico Paola , Rostomashvili Nino , Lévy Jonathan , Scala Marcello , Capra Valeria , Torella Annalaura , van Eyk Clare , Isidor Bertrand , Cogne Benjamin , Srivastava Siddharth , Quinlan Aisling , Vaisfeld Alessandro , Licchetta Laura , Frattini Daniele , Graziano Claudio , Severi Giulia , Bacchi Isabelle , Soliani Luca , Sherr Elliott H. , Argilli Emanuela , Goel Himanshu , De Luca Chiara , Leonardi Silvia , Brancati Francesco , Faletra Flavio , Mio Catia , Braibanti Silvia , Gargano Giancarlo , Fusco Carlo , Novelli Antonio , Tartaglia Marco , Garavelli Livia 
Published: February 2025

ABSTRACTIn 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability and peculiar facial features (Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder; CHDFIDD, OMIM # 617360). This condition is generally referred to as CDK13‐related disorder, and since then other reports have provided further clinical and molecular information. Here we describe a group of 27 previously unreported patients to more accurately profile the clinical spectrum associated with CDK13 variants, disclosing novel associated findings, such as complex craniosynostosis and variable skeletal features (e.g., cranio‐cervical anomalies). We also focused on the ocular phenotype that appears to include bilateral congenital glaucoma, posterior embriotoxon, buphthalmos and Duane anomaly. Finally, we observed two cases of mother‐to‐daughter transmission. Our work clarifies some novel features of CHDFIDD, defines the differential diagnosis of this disorder, and provides recommendations for its clinical management.
Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency
Authors: Stavrén‐Eriksson Elin , Hammarsjö Anna , Lindstrand Anna , Nordgren Ann , Grigelioniene Giedre , Pigg Maritta Hellström 
Published: February 2025

ABSTRACTBone morphogenetic protein 2 (BMP‐2), encoded by the BMP2 gene located in chromosomal region 20p12, is a signalling protein involved in formation of bone and cartilage and other developmental processes such as cardiac and neural development. Haploinsufficiency of BMP2 has been associated with distinct facial features, short stature, skeletal malformations and cardiac abnormalities. The degree of developmental delay is still controversial. We summarise clinical and genetic findings from seven individuals with BMP2 haploinsufficiency. The study participants were identified by genetic testing and their phenotypic data was collected retrospectively from medical records. One individual had a novel frameshift variant in BMP2, and six individuals had 1.3–3.7 Mb microdeletions, including BMP2. In our cohort, delayed language development (4/5) and secretory otitis media (4/5) were common. Our results, together with previous studies, suggest that individuals with sequence variants or small microdeletions can have mild developmental delay or delay in one area (e.g., verbal development or gross motor development). We propose that global developmental delay is either a rare part or not part of the phenotype. Based on our observations, we propose that evaluation of language development and regular controls of the middle ear should be included in the surveillance of these individuals.
Regional Specializations in Green Incumbents and Green Start‐ups in the German Transport Sector
Authors: Hansmeier Hendrik , Losacker Sebastian , Bersch Johannes , Kroll Henning 
Published: February 2025

ABSTRACTThe regional variety of actors is considered a key determinant in the last decade's rich literature on the geography of eco‐innovation and green regional development. However, little is known about the extent to which regions differ in their specialization in new and established eco‐innovation actors. In this article, we propose a regional typology based on green specializations concerning both incumbents and start‐ups in the German transport sector. While many regions show green specializations in either start‐ups or incumbents, only some regions manage to specialize in both. We find that the above‐average regional specialization in eco‐innovation does not seem to be primarily a phenomenon of urban areas, but rather depends on regions' human capital endowments and technological capabilities. The observed heterogeneity in eco‐innovation specializations, both in innovation centers and lagging regions, calls for regional policies that are more sensitive to these differences.
The informational role of cross‐border trading: Evidence from the intraday price discovery in China
Authors: Chan Kalok , Lu Yuan 
Published: February 2025

AbstractWe examine intraday information flows between shares cross‐listed in Hong Kong and Shanghai. The relative trading volume in Hong Kong (Shanghai) is positively related to the relative contribution to price discovery, based on Hasbrouck (1995) Information Share. Northbound trading by Hong Kong investors has a greater contribution to price discovery than southbound trading by Mainland Chinese investors. We construct a few measures of intraday market qualities: (1) probability of informed trading; (2) intraday effective spread; (3) pricing error; and (4) intraday volatility ratio. Evidence indicates that northbound trading and institutional southbound trading, but not retail southbound trading, are informed and improve pricing efficiency.
Driver‐centric urban logistics optimization: vehicle routing with heterogeneous fixed drivers
Authors: Deng Ming , Ding Yi 
Published: February 2025

AbstractIn the era of flourishing online shopping, efficient delivery operations are essential for companies to enhance customer satisfaction and stay competitive. Previous studies often overlooked the attributes of delivery drivers, particularly their regional knowledge, which significantly impacts the optimization of last‐mile delivery operations. This paper introduces the vehicle routing problem with heterogeneous fixed drivers (VRP‐HFD), a novel extension of traditional vehicle routing models. It incorporates the unique attributes of drivers, including their regional knowledge and driving qualifications. We propose a mathematical model that captures the relationships among drivers, vehicles, and customers, aiming to minimize both the number of unserved customers and total operational costs. To address the increased complexity in the VRP‐HFD model, we develop a hybrid adaptive genetic algorithm (HAGA) that integrates multichromosome coding, adaptive genetic operators, and local search techniques to enhance solution quality. Computational experiments using real‐world instances demonstrate the effectiveness of HAGA in generating high‐quality solutions compared to the baseline algorithms. Our findings underscore the critical role of driver attributes in optimizing last‐mile delivery operations, offering valuable insights for logistics companies committed to improving service efficiency and customer satisfaction.
Application of an Electronic Frailty Index to Identify High‐Risk Older Adults Using Electronic Health Record Data
Authors: Kochar Bharati , Cheng David , Lehto Hanna‐Riikka , Jain Nelia , Araka Elizabeth , Ritchie Christine S. , Bernacki Rachelle , Orkaby Ariela R. 
Published: February 2025

ABSTRACTBackgroundMeasurement of frailty is limited in clinical practice. Existing electronic frailty indices (eFIs) are derived from routine primary care encounters, with near‐complete health condition capture. We aimed to develop an eFI from routinely collected clinical data and evaluate its performance in older adults without complete health condition capture.MethodsUsing Electronic Health Record (EHR) data from an integrated regional health system, we created a cohort of patients who were ≥ 60 years on January 1, 2017 with two outpatient encounters in 3 years prior or one outpatient encounter in 2 years prior. We developed an eFI based on 31 age‐related deficits identified using diagnostic and procedure codes. Frailty status was categorized as robust (eFI < 0.1), prefrail (0.1–0.2), frail (0.2–0.3), and very frail (> 0.3). We estimated cumulative incidence of mortality, acute care visits and readmissions by frailty, and fit Cox proportional hazards models. We repeated analyses in a sub‐cohort of patients who receive primary care in the system.ResultsAmong 518,449 patients, 43% were male with a mean age of 72 years; 73% were robust, 16% were pre‐frail, 7% were frail, and 4% were very frail. Very frail older adults had a significantly higher risk for mortality (HR: 4.1, 95% CI: 4.0–4.3), acute care visits (HR: 5.5, 95% CI: 5.4–5.6), and 90‐day readmissions (HR: 2.1, 95% CI: 2.1–2.2) than robust older adults. In a primary care sub‐cohort, while prevalence of deficits was higher, associations with outcomes were similar.ConclusionsThis eFI identified older adults at increased risk for adverse health outcomes even when data from routine primary care visits were not available. This tool can be integrated into EHRs for frailty assessment at scale.
Stakeholders' Actions, Responsibility and Limitations in Support of Nursing Students Experiencing Workplace Violence During Clinical Placement: The Clinical Facilitators View
Authors: Dafny Hila Ariela , Snaith Nicole , Cooper Paul , Waheed Nasreena , Champion Stephanie , Mccloud Christine 
Published: February 2025

ABSTRACTBackgroundWorkplace violence toward nurses is a significant global issue affecting their mental and physical health, job satisfaction and performance, and can ultimately lead to decisions to leave the profession. As the least experienced caregivers in the health workforce, nursing students are particularly vulnerable to experiencing workplace violence and are often powerless to deal with WPV incidents.AimTo examine clinical facilitators' insights into how to support nursing students following experiences of workplace violence during their clinical placement.DesignAn exploratory, descriptive qualitative design.MethodsData were collected between September and November 2022 using semi‐structured interviews with 11 clinical facilitators working in South Australia, each lasting about 1 h. The interviews were transcribed verbatim and analysed using thematic analysis.ResultsClinical facilitators identified that many students found support and solace from avenues outside of the CFs and university staff, including ward staff, family, friends and other students. However, students are limitedly prepared for the realities of clinical work, particularly concerning workplace violence, and that the university supports available were reactive to events in the clinical environment.ConclusionAddressing workplace violence requires systemic changes, better support for clinical facilitators and a steadfast commitment by all stakeholders to student safety.Implications for the ProfessionSolid collaborations between universities and clinical facilities with clear guidelines and direct lines to address potential violence issues are essential. Zero‐tolerance policies regarding workplace violence could provide a safer environment that promotes nursing student learning outcomes, safer placements, better student experiences and optimal healthcare provision.Reporting MethodCOREQ guidelines were adhered to for reporting qualitative research.No Patient or Public ContributionThis paper specifically explores the perspective of the clinical facilitator's experience of WPV in their role of supporting student learning during clinical placement.
Reprogrammed Plant Metabolism During Viral Infections: Mechanisms, Pathways and Implications
Authors: Jiang Tong , Hao Tianwen , Chen Wenjing , Li Chengliang , Pang Shuqi , Fu Chenglong , Cheng Jie , Zhang Chaobo , Ghorbanpour Mansour , Miao Shuo 
Published: February 2025

ABSTRACTPlant viruses pose a significant threat to global agriculture, leading to substantial crop losses that jeopardise food security and disrupt ecosystem stability. These viral infections often reprogramme plant metabolism, compromising key pathways critical for growth and defence. For instance, infections by cucumber mosaic virus alter amino acid and secondary metabolite biosynthesis, including flavonoid and phenylpropanoid pathways, thereby weakening plant defences. Similarly, tomato bushy stunt virus disrupts lipid metabolism by altering the synthesis and accumulation of sterols and phospholipids, which are essential for viral replication and compromise membrane integrity. Recent advancements in gene‐editing technologies, such as CRISPR/Cas9, and metabolomics offer innovative strategies to mitigate these impacts. Precise genetic modifications can restore or optimise disrupted metabolic pathways, enhancing crop resilience to viral infections. Metabolomics further aids in identifying metabolic biomarkers linked to viral resistance, guiding breeding programmes aimed at developing virus‐resistant plants. By reducing the susceptibility of crops to viral infections, these approaches hold significant potential to reduce dependence on chemical pesticides, increase crop yields and promote sustainable agricultural practices. Future research should focus on expanding our understanding of virus–host interactions at the molecular level while exploring the long‐term ecological impacts of viral infections. Interdisciplinary approaches integrating multi‐omics technologies and sustainable management strategies will be critical in addressing the challenges posed by plant viruses and ensuring global agricultural stability.
Praxis
Authors: Lee Simon Craddock 
Published: February 2025

AbstractAspiring to the idea that praxis opens up possibilities for transformation, this commentary reflects on the work of contributing authors to consider interrelationships between pedagogy, research, and praxis of community‐engaged work to create change through the academic enterprise without losing sight of goals to support often‐underserved communities and populations that anthropologists study. This treatment situates the accounts of community‐engaged research in the context of the NIH investment in clinical translational research and explores the notion of engaging the community beyond clinical trial accrual while recognizing the vexed subject position of anthropologists in the employ of academic medical centers. The commentary then reflects on key terms from the contributors, questioning the objective of getting back to normal, the lived experience of intersectionality, and the challenge of centering root causes as we work to remedy disparities/inequities. Acknowledging the power of NIH as a sociocultural driver of academic medicine, the commentary positions anthropology as a disciplinary vehicle for moving between the individual and the social registers, ending with a reflection on critique as a form of praxis.
Unemployment Dynamics With Informality: An Empirical Analysis for a Developing Country
Authors: Foguel Miguel Nathan , Corseuil Carlos Henrique , Moreira Ajax 
Published: February 2025

ABSTRACTWe implement decompositions of cyclical unemployment for a developing country in which we divide the employment state into formal and informal states. Using the conventional steady‐state decomposition, the results show that the contributions of the formal sector to the margins of job separation and job finding are balanced, while the contributions of the informal sector to these two margins are quite uneven. Given the debate about the adequacy of methods that rely on the steady‐state unemployment as a good proxy for current unemployment in countries other than the United States, we use alternative decomposition methods and confirm the robustness of the steady‐state results.
Surgical Outcomes of Olecranon Osteotomy Approach Combined With Submerged Kirschner Wires and Plate Fixation for Duckerley IIIB Distal Humeral Coronal Shear Fractures
Authors: Song Zhou‐Feng , Zhao Wei‐Qiang , Zhang Zeng‐Li , Huang Jie‐Feng 
Published: February 2025

ABSTRACTObjectiveDuckerley type IIIB distal humerus fractures are rare and complex injuries that pose significant challenges in both diagnosis and treatment. Currently, no consensus exists on the fixation method, with existing approaches often struggling to handle small fragments and associated with issues like elbow instability. The purpose of this study is to evaluate the surgical outcomes of submerged Kirschner wires combined with plate or submerged screw fixation technique for the treatment of Duckerley type IIIB distal humerus fractures.MethodsA retrospective analysis was conducted on 10 patients with Duckerley type IIIB distal humerus fractures who were treated at our hospital from February 2017 to April 2021. The treatment involved applying buried Kirschner wires combined with microplate or buried screw fixation technique through the olecranon osteotomy approach. The study included six males and four females, with a mean age of 51.4 ± 15.34 years (ranging from 22 to 69 years). During the follow‐up, the elbow range of motion, Mayo Elbow Performance Score (MEPS), American Shoulder and Elbow Surgeons (ASES) score, and complications were assessed.ResultsAll 10 patients received regular clinical and imaging follow‐up for a mean of 39.7 ± 8.8 months (range: 25–50 months). Postoperative incision healing was good for all patients, and no neurovascular injuries were noted. Two patients developed elbow pain. At the last follow‐up before the internal fixation removal operation (9.6 ± 1.9 months), X‐ray and CT findings confirmed bony healing, and no internal fixation loosening and breakage occurred in any of the patients, except for one case in which there was displacement of the Kirschner wires. The mean range of motion of the elbow before the internal fixation removal operation was extension 15.0° ± 21.6°, flexion 129.5° ± 28.1°, pronation 83.0° ± 9.2°, and supination 81.5° ± 8.0°. The MEPS score was 83.0 ± 8.3, and the ASES was 83.6 ± 7.8. At the last follow‐up, the mean range of motion of the elbow was extension 10.0° ± 21.9°, flexion 133.5° ± 16.0°, pronation 88.0° ± 11.2°, and supination 85.0° ± 9.5°. The MEPS score was 84.6 ± 7.6, and the ASES was 84.1 ± 7.4.ConclusionsThe treatment of Duckerley type IIIB low distal humerus fractures using submerged Kirschner wires combined with plate or submerged screw fixation technique has satisfactory advantages in terms of fracture reduction, maintenance of the position of internal fixation, and postoperative recovery.
Climate Change and the Social Order
Authors: Beckert Jens 
Published: February 2025

ABSTRACTDespite decades of awareness, societies have failed to adequately respond to climate change, as evidenced by rising CO2 emissions and the continued dominance of fossil fuels in global energy consumption. This failure underscores the structural constraints of capitalist modernity, where economic and political incentives, as well as consumer behaviors, obstruct effective climate action. Beyond the challenge of mitigation, climate change raises pressing questions about its social and political consequences. Societies will face increasing losses due to extreme weather events, resource depletion, and declining living conditions, exacerbating social inequalities and undermining the legitimacy of existing political and economic structures. The inability of capitalist modernity to address this crisis fosters a state of social anomie, where normative commitments to sustainability clash with entrenched systemic realities. Social scientists have a crucial role in examining these structural failures and identifying pathways for adaptation, resilience, and transformation. By analyzing the conflicts and contradictions within current societal arrangements, they can contribute to a more comprehensive understanding of climate change as a profound challenge to social order and political stability.
Anthropology and change over the ‘land rights era’: Towards treaties?
Authors: Merlan Francesca 
Published: February 2025

AbstractAustralia has made no treaties with its Indigenous peoples. Despite that, over the past five decades (the ‘land rights era’ of the title), Australia has granted proportionally more land area to Indigenous interests than have other, treaty‐making Anglo settler colonies (Canada, the United States, New Zealand). Despite complexities of comparison by area, an order of difference is clearly discernible. After comparing these countries, this article examines legal and political changes involved in the transformation from no ‘Indigenous estate’ in Australia to a comparatively large one, and sketches the role anthropologists have played in land and native title claims which has enlarged the Indigenous estate. Subsequent articles in this issue treat the kinds of change that anthropologists, in their commitment to close ethnographic work, have been observing at this intersection of law and anthropology. This article concludes by considering directions in which land and native title claims seem to be moving.
Understanding community perspectives for advancing inclusion of trans and gender‐diverse people in blood donation in Australia
Authors: Thorpe Rachel , Jensen Kyle , Masser Barbara , Bentley Peter , Dryden Tarin , Forrest Eleanor , Kaladelfos Andy , Larcombe Travis , Pastor Tanya , Saint‐James Aaron , Wilson Shauna , Haire Bridget 
Published: February 2025

AbstractBackground and ObjectivesTrans and gender‐diverse people who wish to donate blood face significant barriers with policies and procedures differing across countries. It remains critical to explore the experiences and perspectives of trans and gender‐diverse people in different locations to understand challenges in local systems. We undertook a qualitative study focussed on procedures and processes affecting trans and gender‐diverse people in Australia, and their views about needed change.Materials and MethodsStakeholders collaborated with the researchers to refine the focus of and design the research. Semi‐structured interviews were conducted with 14 trans and gender‐diverse people who were current, past or potential donors. The interviews comprised open‐ended questions about donation experiences, knowledge of current policies and procedures and preferences for change. Interviews were analysed using thematic analysis.ResultsParticipants reported varied and inconsistent donation experiences. When compared with current practice, participants preferred a two‐step approach to donor registration that asks for sex reported at birth followed by gender identity. However, they also expressed concern that the two‐step approach could deter new donors and stressed the importance of only collecting information relevant to eligibility assessment. Participants were supportive of a gender‐neutral approach to assess eligibility to donate.ConclusionOur study highlights significant barriers and procedural inconsistencies for trans and gender‐diverse individuals when (considering) donating blood. We recommend more inclusive practices including clear communication about data use, rigorous staff training on gender diversity, registration processes that respect all gender identities and adopting a gender‐neutral approach to donor screening.