bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia
Authors: Pagnamenta Alistair T. , Hashim Mona , Kennedy Joanna , Lawton Beth , Offiah Amaka C. , Taylor Jenny C. , Smithson Sarah F. 
Published: February 2025

ABSTRACTCBFB encodes the core‐binding factor β subunit, a small protein which heterodimerises with RUNX1‐3 and activates transcription of genes important in bone development. Recently, five families with cleidocranial dysplasia (CCD) were identified harbouring presumed loss of function variants in CBFB. Prompted by a multidisciplinary team review of an affected mother and daughter from the 100 000 Genomes Project with genetically unsolved CCD, we inspected read alignments and identified a deletion–inversion–deletion that removes the first two exons of CBFB. This cryptic variant comprised interlinked deletions of 1310 bp and 1935 bp and had remained undetected by both array‐CGH and the Canvas algorithm. The rearrangement was likely mediated by a palindromic AluSx repeat < 1 kb from the transcriptional start site. Due to high GC content and repeats, reduced read depth is observed at one of the breakpoints. Although the clinical presentation of CBFB‐related CCD appears to be very similar to RUNX2‐related CCD, our patients were of normal stature. The mild developmental delay observed in previously reported cases of CBFB‐related CCD was not observed. In conclusion, our data strengthens the evidence linking aberrations of the core‐binding factor complex to CCD and extends the mutational spectrum of pathogenic variants.
A Texture‐Free Practical Model for Realistic Surface‐Based Rendering of Woven Fabrics
Authors: Khattar Apoorv , Zhu Junqiu , Yan Ling‐Qi , Montazeri Zahra 
Published: February 2025

AbstractRendering woven fabrics is challenging due to the complex micro geometry and anisotropy appearance. Conventional solutions either fully model every yarn/ply/fibre for high fidelity at a high computational cost, or ignore details, that produce non‐realistic close‐up renderings. In this paper, we introduce a model that shares the advantages of both. Our model requires only binary patterns as input yet offers all the necessary micro‐level details by adding the yarn/ply/fibre implicitly. Moreover, we design a double‐layer representation to handle light transmission accurately and use a constant timed () approach to accurately and efficiently depict parallax and shadowing‐masking effects in a tandem way. We compare our model with curve‐based and surface‐based, on different patterns, under different lighting and evaluate with photographs to ensure capturing the aforementioned realistic effects.
Immediate Implant Placement in the Esthetic Zone: A Multi‐Variate Analysis of Influencing Factors
Authors: Jin Yixin , Deng Chen , Yang Xingmei , Man Yi , Hu Chen 
Published: February 2025

ABSTRACTObjectivesTo evaluate the dimensional reduction of the peri‐implant hard tissues and esthetic outcome after immediate implant placement (IIP) in the esthetic zone.Material and MethodsPatients who received IIP with bone grafts in the esthetic zone, with either immediate or delayed restoration, were included in this retrospective cohort study. The implants were categorized into three groups based on the labial bone thickness (LBT) before implantation: Group 1 (≤ 0.5 mm), Group 2 (0.5–1 mm), Group 3 (≥ 1 mm). The horizontal bone loss (HBL) at 0, 3, 5 mm apical to implant shoulder, peri‐implant marginal bone loss (MBL), and Pink Esthetic Score (PES) were used to evaluate the hard and soft tissue after IIP.ResultsA total of 87 implants in 74 patients met the inclusion criteria. Compared to group 3, there was significant severe bone loss in the HBL‐0 mm in groups 1 (p = 0.017); and the implant located in the central incisor position and female may led to increased bone resorption (p = 0.021, p = 0.061, respectively). For HBL‐3 mm and HBL‐5 mm, the non‐immediate restoration may reduce bone resorption (p = 0.013, p = 0.022, respectively). The MBL during short‐term follow‐up and PES score showed no significant difference among three groups.ConclusionsDespite limitations, our study found that LBT < 0.5 mm significantly affected horizontal bone loss. Meanwhile, immediate restoration, implant position of central incisors and female may also be considered as risk factors for HBL. However, the difference in the labial bone did not significantly affect MBL, or peri‐implant soft tissue outcomes.Trial RegistrationThis study was registered in a clinical trial registry (www.chictr.org.cn, No: ChiCTR2400087990)
A Clinical and Radiographic 3 Years Retrospective Study for Two Types of Locator Retained Mandibular Implant Overdenture
Authors: Ibrahim Christine Raouf Micheal , Ahmed Aboelez Marwa , Elkashty Ayman Abdel Rahim Mohammed , Awad Heba Nabil 
Published: February 2025

ABSTRACTIntroductionThis retrospective study aimed to evaluate peri‐implant marginal bone loss (MBL) and prosthetic complications between two types of locator attachments in two implant‐supported mandibular overdentures.Material and MethodFrom the archived records, information about patients who had two implants inserted utilizing two different types of locator attachments into the interforaminal region between November 2019 and December 2023 was obtained. Overall, 60 patients (Total = 120 implants) from the archive records of the Prosthodontics Department, Faculty of Dentistry, Mansoura University, with ages ranging from 40 to 60 (mean age 50), were included in the study. Group I (control): Overall, 30 patients who would be delivered mandibular implant overdenture using conventional locator attachments. Group II (study): Overall, 30 patients who would be delivered mandibular implant overdenture using RTx locator attachments. After the placement of the mandibular overdenture (T0), 6 months (T6), 12 months (T12), and 3 years (T3) later, the marginal bone loss (MBL) was assessed. Prosthetic complications were evaluated for both groups 3 years after prosthetic delivery.ResultA statistically significant increase (p = 0.000) was found in MBL scores at all observation times between both groups. Group II showed a statistical increase in MBL than Group I. For prosthetic complications, no significant difference was found between both groups. Group II showed more matrix wear than Group I however, it was not statistically significant (p = 0.60).ConclusionWithin the limitation of this study, we can conclude the following: Both types of locator attachment (conventional and RTx locator) can be used clinically with no preference concerning the frequency of prosthetic complications. From the MBL perspective, conventional locators are more favorable than RTx locators.
The Less Meaningful the Understanding, the Faster the Feeling: Speech Comprehension Changes Perceptual Speech Tempo
Authors: Chen Liangjie , Jin Yangping , Ge Zhongshu , Li Liang , Lu Lingxi 
Published: February 2025

AbstractThe perception of speech tempo is influenced by both the acoustic properties of speech and the cognitive state of the listener. However, there is a lack of research on how speech comprehension affects the perception of speech tempo. This study aims to disentangle the impact of speech comprehension on the perception of speech tempo by manipulating linguistic structures and measuring perceptual speech tempo at explicit and implicit levels. Three experiments were conducted to explore these relationships. In Experiment 1, two explicit speech tasks revealed that listeners tend to overestimate the speech tempo of sentences with low comprehensibility, although this effect decreased with repeated exposure to the speech. Experiment 2, utilizing an implicit speech tempo task, replicated the main findings of Experiment 1. Furthermore, the results from the drift‐diffusion model eliminated the possibility that participants’ responses were based on the type of sentence. In Experiment 3, non‐native Chinese speakers with varying levels of language proficiency completed the implicit speech rate task. The results showed that non‐native Chinese speakers exhibited distinct behavioral patterns compared to native Chinese speakers, as they did not perceive differences in speech tempo between high and low comprehensibility conditions. These findings highlight the intricate relationship between the perception of speech tempo and the comprehensibility of processed speech.
Virtual Partners Improve Synchronization in Human−Machine Trios
Authors: Van Kerrebroeck Bavo , Wanderley Marcelo M. , Demos Alexander P. , Palmer Caroline 
Published: February 2025

AbstractThe interplay between auditory and motor processes in sensorimotor synchronization is crucial for achieving a cohesive group performance, particularly in musical groups. This study addressed the impact of virtual partners on synchronization performance in human trios. With a novel methodology, the study utilized virtual partners driven by computational models to simulate real‐time synchronization with human participants. Trio synchronization with three synchronization models was compared: linear error‐correction, Kuramoto oscillators, and delay‐coupled oscillators. Forty‐eight musically trained adults performed synchronization tasks in both in‐phase and anti‐phase rhythms with either a human confederate or one of the three computational models as the third partner, forming 24 trios. Synchronization stability and accuracy were significantly enhanced in trios that contained a virtual partner compared to those with a human confederate. Model optimizations revealed a stronger coupling of participants with each other than with virtual partners for in‐phase rhythms, and a stronger coupling of virtual partners with participants than of participants with each other in anti‐phase rhythms; these patterns were obtained for the oscillator models but not for the linear model. Additionally, participants reported higher perceived synchronization success, greater control over performance, and stronger social relationships with virtual partners than with the human confederate. These findings highlight the potential of virtual partners for improving synchronization and suggest avenues for further research in the use of adaptive agents in group performance settings.
Do You Control Your Unconscious Action Impulses?
Authors: Wang Yongchun , Li Mingxiang , Zou Meng , Gao Yunfei , Cao Jinlan , Tang Zhengqi , Wang Yonghui 
Published: February 2025

AbstractA crucial aspect of self‐control is the voluntary inhibition of impulsive actions. Stimuli can elicit impulses (or preparation) to act not only in the presence but also in the absence of perceptual awareness, but whether people control action impulses elicited by unconscious stimuli remains unclear. This study used a masked prime version of the Go/NoGo/Free task and combined mathematical modeling of behavioral data to investigate whether people control the unconscious action impulses. In the experiment, when the subliminal prime stimulus triggers the unconscious action impulse, participants need to freely decide whether or not to perform the action. The results showed that the no‐response rate was higher in Go‐prime free‐choice trials than in NoGo‐prime free‐choice trials, and there were marginally larger negative drift rates in the former than in the latter. The results suggest that people are more likely to make inhibitory decisions about unconscious action impulses. This finding provides support for a framework that extends the feedback loop model of intentional inhibition.
CYP2D6 genotype and associated 5‐HT3 receptor antagonist outcomes: A systematic review and meta‐analysis
Authors: Moore Claire , Williams Elizabeth , Dyas Roxanne , Halman Andreas , Stenta Tayla , Khatri Dhrita , Elliott David A. , Lange Peter W , Caudle Kelly E. , Conyers Rachel 
Published: February 2025

Abstract5‐hydroxytryptamine‐3 (5‐HT3) receptor antagonists including ondansetron, tropisetron, dolasetron, palonosetron, granisetron, and ramosetron are commonly used to prevent and treat nausea and vomiting. Most of these medications are at least partially metabolized via the highly polymorphic CYP2D6 enzyme, resulting in variations of metabolism among individuals. Current (2017) international prescribing guidelines for ondansetron/tropisetron use according to genotype provide recommendations for CYP2D6 ultrarapid metabolizers but not intermediate or poor metabolizers. However, multiple studies have been conducted since this guideline was published. This review evaluated all available evidence of an association between CYP2D6 genotype and 5‐HT3 receptor antagonist outcomes, including in patients who are CYP2D6 intermediate/poor metabolizers and pediatric‐specific studies. In this review, we confirm that CYP2D6 genotype impacts ondansetron response in a postoperative nausea and vomiting setting, which was supported by a meta‐analysis. We also highlight the heterogeneity and limitations of included studies as well as provide future directions for pharmacogenomics research.
Early transition markers, opportunities, and limitations that define pathways into the labour market from adolescence to adulthood in South Africa
Authors: Rossouw Laura , Watt Kathryn Grace , Timol Furzana , Davidson Leslie L. , Desmond Chris 
Published: February 2025

AbstractMotivationThe transition from adolescence to adulthood encompasses key social changes. NEET status (Not in Education, Employment or Training) during this period disrupts this transition and alters an adolescent's life course. This is of particular concern in South Africa, a middle‐income country with one of the world's highest rates of youth unemployment.PurposeThe pathway to becoming NEET emerges over time by accumulating risks in early life and adolescence. Early‐life adversities can increase the probability of events associated with becoming NEET. We aim to identify early‐life and adolescent predictors of events associated with becoming NEET, as well as predictors of NEET status itself.Methods and approachWe analyse four rounds of longitudinal data from a sample of 1,174 adolescents growing up in peri‐urban KwaZulu‐Natal, South Africa. Using a socioecological life‐course model, we create two overlapping analytic cohorts and two NEET vulnerability indices to evaluate whether risks for vulnerability in schooling (early outcomes) are similar to those affecting post‐schooling education and labour‐market outcomes (later outcomes). We use a linear probability model to analyse the relationship between the vulnerability indices and the range of risk factors in the socioecological life‐course model.FindingsA strong predictor of both NEET vulnerability indices includes reporting feeling hopeless about the future. Other significant predictors include behavioural factors (getting pregnant or impregnating someone during adolescence, and drinking alcohol before age 16), family structure (residing with one's biological mother in early adolescence was protective) and demographics (age).Policy implicationsBy deepening our understanding of how individual and contextual characteristics shape the transition into productive adulthood through a life‐course approach, we can identify possible early intervention points lost once young people become NEET.
Unveiling the Link: The Potential Roles of Vitamin D in Keloid Pathophysiology
Authors: Kotze Jaco , Nortje Evangeline , Phulukdaree Alisa , Fear Mark William , Wood Fiona , Bester Janette 
Published: February 2025

ABSTRACTKeloid disease, a fibroproliferative skin disorder, is characterised by scar tissue growth that extends beyond the original wound boundaries. Despite advancements, current treatments, particularly surgical excision, often result in high recurrence rates, ranging from 45% to 100%. Recent investigations into the role of vitamin D (vit D) in keloids present a promising avenue for novel therapeutic strategies. Studies have highlighted the multifaceted involvement of vit D, including its immunomodulatory effects and influence on key processes such as fibroblast activity, collagen production and extracellular matrix dynamics. Additionally, emerging research has explored the potential impact of vit D on epithelial‐to‐mesenchymal transition and endothelial dysfunction, both of which are implicated in keloid formation and progression. This review consolidates the current evidence linking vitamin D deficiency to keloid pathogenesis, shedding light on potential mechanisms and therapeutic targets. By elucidating the intricate interplay between vit D signalling and keloid development, this study paves the way for innovative treatment approaches that may enhance patient outcomes and mitigate the burden of this challenging dermatological condition.
Microbially Enhanced Growth and Metal Capture by Ferromanganese Concretions in a Laboratory Experiment
Authors: Majamäki Renata , Wasiljeff Joonas , Purkamo Lotta , Hultman Jenni , Asmala Eero , Yli‐Hemminki Pirjo , Jørgensen Kirsten S. , Koho Karoliina , Kuva Jukka , Virtasalo Joonas J. 
Published: February 2025

ABSTRACTThe growth and metal enrichment of ferromanganese minerals on the seafloor have intrigued many studies, yet the role of microbes in the process has remained elusive. Here, we assessed the microbial influence on the growth and trace metal accumulation and release of ferromanganese concretions from the Baltic Sea using 12‐week microcosm incubation experiments. We studied three concretion morphotypes: Crust, discoidal, and spheroidal, with biotic and abiotic treatments. The concretion samples were collected into bottles containing artificial brackish seawater from the Gulf of Finland, incubated in in‐situ simulating conditions, and sampled at the beginning and end of the experiment. Microscale X‐ray‐computed tomography confirmed the local growth of up to 10 μm thick patches on the concretion surface during the 12‐week incubation period, corresponding to a growth rate of 0.04 mm/year. Scanning electron microscopy of glass slides in the microcosms revealed freshly precipitated cauliflower‐like grains, typical of freshly formed Fe‐ and Mn‐hydroxides. Decreased concentrations of dissolved trace metals (Mn, Fe Co, V, Ni, Zn, and Mo) in the incubation solutions indicated the accumulation of these elements into concretions in the biotic microcosms. In contrast, the dissolution of concretions was observed in abiotic microcosms, confirming that microbial activity enhanced the ferromanganese precipitation and the associated accumulation and release of P and trace metals into the ambient solution. The microbial contribution was confirmed by a strong decrease in headspace methane concentrations in biotic microcosms, further indicating the presence of active methanotrophs in the concretion communities.
Coastal Marsh Vulnerability to Sea‐Level Rise Is Exacerbated by Plant Species Invasion
Authors: Wang Dawei , Gu Chuanhui , Temmerman Stijn , Belliard Jean‐Philippe , Gourgue Olivier , Xue Liming , Bai Junhong 
Published: February 2025

ABSTRACTCoastal salt marshes and their valuable ecosystem services are vulnerable to degradation due to rising sea levels, to which they can adapt through biogeomorphic feedbacks. However, the invasion of plant species, particularly eco‐engineering species that alter these interactions, may degrade the structural integrity and functionality of salt marshes, potentially reducing their resilience to sea‐level rise. Such impacts presently remain poorly understood. Focusing on coastal marshes of China, we utilized a coupled biogeomorphic model to explore the effects of Spartina alterniflora invasion versus native Suaeda salsa on coastal geomorphology, considering different sea‐level rise and tidal scenarios. Our results revealed that Spartina alterniflora invasion contributed to the formation of a “levee‐basin” geomorphological structure at both the landscape scale (from seaward to landward zones) and the local scale (from channel fringes to marsh interiors). This pattern led to a prominent marsh depression, particularly in “basin” areas under microtidal conditions, indicating increased vulnerability to rising sea levels in invaded systems. Additionally, the proliferation of Spartina alterniflora could completely displace Suaeda salsa. Our findings emphasize the importance of controlling plant invasion to safeguard ecosystem resilience to environmental change.
Improving Carbon Budgets by Accounting for Inorganic Carbon in Seagrass Ecosystems
Authors: Ren Yuzheng , Liu Songlin , Liang Jiening , Akhand Anirban , Luo Hongxue , Jiang Zhijian , Wu Yunchao , Huang Xiaoping , Macreadie Peter I. 
Published: February 2025

ABSTRACTWhile seagrass ecosystems are acknowledged for their role as blue carbon sinks, significant uncertainties remain regarding the sequestration of sediment inorganic carbon (SIC) and its broader implications for carbon cycling. These knowledge gaps hinder a comprehensive assessment of the contribution of seagrass ecosystems to the global carbon budget. To address this gap, the drivers and sources of SIC in nine seagrass ecosystems in the tropical Indo‐Pacific were analyzed using partial least squares path modeling and carbon and oxygen isotopes binding Bayesian mixing models. We found that SIC content varies regionally, ranging from 0.03% to 10.18%, and is positively correlated with seagrass biomass, temperature, salinity, and coarse‐grained sediment. SIC stocks ranged from 1.53 to 203.17 Mg C ha−1, confirming the role of tropical Indo‐Pacific seagrass ecosystems as a significant pool for SIC. SIC content and stock beneath seagrass ecosystems are generally higher than those in unvegetated areas due to the capacity to trap particles of the seagrass canopy. SIC beneath seagrass ecosystems affected by runoff is mainly from terrestrial inputs. Conversely, SIC under seagrass ecosystems regulated by seawater is primarily derived from local production and inputs from adjacent ecosystems and fish farming wastewater. This study provides a robust method to enhance the accuracy of blue carbon accounting in seagrass ecosystems by the inclusion of inorganic carbon burial.
Global Projection of Terrestrial Vertebrate Food Webs Under Future Climate and Land‐Use Changes
Authors: Hao Xiyang , Holyoak Marcel , Zhang Zhicheng , Yan Chuan 
Published: February 2025

ABSTRACTFood webs represent an important nexus between biodiversity and ecosystem functioning, yet considering changes in food webs around the world has been limited by data availability. Previous studies have predicted food web collapses and coextinction, but changes in food web structure have been less investigated under climate warming and anthropogenic pressures on a global scale. We systematically amassed information about species' diets, traits, distributions, habitat use, and phylogenetics in the real world and used machine learning to predict changes in global meta‐food webs of terrestrial vertebrates under climate and land‐use changes. By year 2100, terrestrial vertebrate food webs are expected to decrease in web size by 32% and trophic links by 49%. Projections predict declines of over 25% in modularity, predator generality, and diversity of trophic groups. Increased species' dispersal could ameliorate these trends but indicate disproportionate vulnerability of regional food webs. Unlike many previous studies, this work combines extensive empirical data with advanced modeling techniques, providing a more detailed and spatially explicit prediction of how global food webs will respond to climate and land‐use changes. Overall, our study predicts terrestrial vertebrate food webs will undergo drastic and spatially heterogeneous structural changes.