bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
Authors: Turgut Gozde Tutku , Altunoglu Umut , Gulec Cagri , Sarac Sivrikoz Tugba , Kalaycı Tuğba , Toksoy Guven , Avcı Şahin , Yıldırım Behiye Tuğçe , Sayın Gözde Yeşil , Kalelioglu Ibrahim Halil , Karaman Birsen , Has Recep , Başaran Seher , Yuksel Atil , Kayserili Hülya , Uyguner Zehra Oya 
Published: January 2024

AbstractMultiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence. We hereby present a series of 26 fetuses displaying severe MCC phenotypes from 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, and genetic investigations. Most common prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios (50%), increased nuchal translucency (50%), and fetal hydrops (35%). Postmortem examinations unveiled additional anomalies including facial dysmorphisms, dysplastic skeletal changes, ichthyosis, multiple pterygia, and myopathy, allowing preliminary diagnosis of particular Mendelian disorders in multiple patients. Evaluation of the parents revealed maternal grip myotonia in one family. By exome sequencing and targeted testing, we identified causative variants in ACTC1, CHST14, COG6, DMPK, DOK7, HSPG2, KLHL7, KLHL40, KIAA1109, NEB, PSAT1, RAPSN, USP14, and WASHC5 in 15 families, and one patient with a plausible diagnosis associated with biallelic NEB variants. Three patients received a dual diagnosis. Pathogenic alterations in newly discovered genes or in previously known genes recently linked to new MCC phenotypes were observed in 44% of the cohort. Our results provide new insights into the clinical and molecular landscape of lethal MCC phenotypes.
Evaluative Deflation, Social Expectations, and the Zone of Moral Indifference
Authors: Willemsen Pascale , Baumgartner Lucien , Cepollaro Bianca , Reuter Kevin 
Published: January 2024

AbstractActs that are considered undesirable standardly violate our expectations. In contrast, acts that count as morally desirable can either meet our expectations or exceed them. The zone in which an act can be morally desirable yet not exceed our expectations is what we call the zone of moral indifference, and it has so far been neglected. In this paper, we show that people can use positive terms in a deflated manner to refer to actions in the zone of moral indifference, whereas negative terms cannot be so interpreted.
Line‐field confocal optical coherence tomography, a novel non‐invasive tool for the diagnosis of onychomycosis
Authors: Eijkenboom Quirine Louise , Daxenberger Fabia , Gust Charlotte , Hartmann Daniela , Guertler Anne , Steckmeier Stephanie , Deussing Maximilian , French Lars Einar , Welzel Julia , Schuh Sandra , Sattler Elke Christina 
Published: January 2024

SummaryBackground and objectivesOnychomycosis is common and important to distinguish from other nail diseases. Rapid and accurate diagnosis is necessary for optimal patient treatment and outcome. Non‐invasive diagnostic tools have increasing potential for nail diseases including onychomycosis. This study evaluated line‐field confocal optical coherence tomography (LC‐OCT) as a rapid non‐invasive tool for diagnosing onychomycosis as compared to confocal laser scanning microscopy (CLSM), optical coherence tomography (OCT), and conventional methods.Patients and MethodsIn this prospective study 86 patients with clinically suspected onychomycosis and 14 controls were examined using LC‐OCT, OCT, and CLSM. KOH‐preparation, fungal culture, PCR, and histopathology were used as comparative conventional methods.ResultsLC‐OCT had the highest sensitivity and negative predictive value of all methods used, closely followed by PCR and OCT. Specificity and positive predictive value of LC‐OCT were as high as with CLSM, while OCT scored much lower. The gold standard technique, fungal culture, showed the lowest sensitivity and negative predictive value. Only PCR and culture allowed species differentiation.ConclusionsLC‐OCT enables quick and non‐invasive detection of onychomycosis, with advantages over CLSM and OCT, and similar diagnostic accuracy to PCR but lacking species differentiation. For accurate nail examination, LC‐OCT requires well‐trained and experienced operators.
A novel approach to accurately measuring the burden of hospitalisations for cardiovascular disease in people with diabetes: A pilot study
Authors: Huynh Quan , Burgess John , Flentje Kate , Tan Neville , Batchelor Riley , Marwick Thomas H. , Shaw Jonathan E. 
Published: January 2024

AbstractAimTo determine the reliability of hospital discharge codes for heart failure (HF), acute myocardial infarction (AMI) and stroke compared with adjudicated diagnosis, and to pilot a scalable approach to adjudicate records on a population‐based sample.MethodsA population‐based sample of 685 people with diabetes admitted (1274 admissions) to one of three Australian hospitals during 2018–2020 were randomly selected for this study. All medical records were reviewed and adjudicated.ResultsCardiovascular diseases were the most common primary reason for hospitalisation in people with diabetes, accounting for ~17% (215/1274) of all hospitalisations, with HF as the leading cause. ICD‐10 codes substantially underestimated HF prevalence and had the lowest agreement with the adjudicated diagnosis of HF (Kappa = 0.81), compared with AMI and stroke (Kappa ≥ 0.91). While ICD‐10 codes provided suboptimal sensitivity (72%) for HF, the performance was better for AMI (sensitivity 84%; specificity 100%) and stroke (sensitivity 85%; specificity 100%). A novel approach to screen possible HF cases only required adjudicating 8% (105/1274) of records, correctly identified 78/81 of HF admissions and yielded 96% sensitivity and 98% specificity.ConclusionsWhile ICD‐10 codes appear reliable for AMI or stroke, a more complex diagnosis such as HF benefits from a two‐stage process to screen for suspected HF cases that need adjudicating. The next step is to validate this novel approach on large multi‐centre studies in diabetes.
Methods and applications of finite element analysis in dental trauma research: A scoping review
Authors: Atif Mohammad , Tewari Nitesh , Reshikesh Manjari , Chanda Arnab , Mathur Vijay Prakash , Morankar Rahul 
Published: January 2024

AbstractFinite Element Analysis (FEA) is vital for understanding dental traumatology (DT) biomechanics, aiding diagnosis, treatment planning, and outcome prediction. This review explores FEA applications in DT research, evaluates their quality and outcomes, and assesses methodological aspects. Accordingly, recommendations for future researchers are provided. The study adhered to Preferred Reporting Items for Systematic Reviews and Meta‐Analyses guidelines for scoping reviews and registered in Open Science framework. A comprehensive search using relevant text‐words and MeSH terms was performed in established databases. The inclusion criteria encompassed all Finite element analysis (FEA)‐based Dental traumatology (DT) studies without language or publication year restrictions. Risk of bias was assessed with the Risk of bias tool for the use of finite element analysis in dentistry (ROBFEAD) tool. Forty‐six studies published from 2001 to 2023 were included in the qualitative synthesis. The studies were categorized into five domains and six subdomains based on objectives. Maxillary central incisors and surrounding structures were commonly modelled (n = 27). Most studies utilized Computed tomography (CT), Cone Beam CT, or micro CT. Traumatic injury forces ranged from 100 N to 2000 N, and occlusal forces ranged from 150 N to 350 N. All studies were rated as high risk of bias. Fory‐six studies were categorized, with most focusing on stress distribution and fracture patterns in dento‐alveolar structures under various conditions, while few assessed displacements. Methodological quality lacked robustness in model development and substructure properties. Future studies should address these limitations and enhance reporting practices.
Characteristics of pediatric mandibular condylar fractures in Southwest China: A single‐center and 12‐year retrospective study
Authors: Chen Ruitian , Liao Lishu , Huo Sibei , Wu Juan , Li Wanshan 
Published: January 2024

AbstractBackground/AimMandibular condylar fractures in pediatric patients may exhibit distinct epidemiological characteristics attributed to their unique growth and development phase, as well as various anatomical, physiological, biomechanical, and behavioral factors that differentiate them from adults. This study aimed to investigate the demographics, injurious factors, classifications, clinical manifestations, and treatments of pediatric mandibular condylar fractures, as well as the concomitant injuries in maxillofacial and other body parts.Materials and MethodsThis retrospective study analyzed the clinical data of 189 pediatric patients with mandibular condylar fractures between 2011 and 2022. Variables investigated included age, gender, timing of onset, causes, classification of condylar fracture, concomitant injuries, clinical manifestations, and treatment modalities.ResultsA total of 189 patients, a higher proportion of boys compared to girls was observed, with the highest incidence rate in children aged 1–3 years. They occurred primarily in July, June, and September as well as on Saturdays and Sundays. The most prevalent cause of mandibular condylar fractures was falls from heights in 73 patients (38.62%). Pediatric patients exhibited a higher susceptibility to condylar head fractures. A significant majority (81.48%) of these fractures were accompanied by soft tissue injuries in the maxillofacial region, with the chin being particularly vulnerable to injury. In addition, 61.90% of pediatric patients experienced fractures in other areas of the maxillofacial region, with the mandibular symphysis being the most commonly affected site. Dental trauma predominantly occurred in the anterior region (44.97%). Notably, a substantial proportion (28.04%) of cases also presented with multiple systemic injuries.ConclusionsThe characteristics of pediatric mandibular condylar fractures exhibit distinct features in terms of age, gender, timing of onset, etiology, location and type, the presence of concomitant maxillofacial soft/hard tissue injuries and multiple systemic injuries, as well as clinical manifestations and treatment modalities. Therefore, clinicians should pay special attention to the diagnosis and treatment of pediatric condylar fractures.
Teledentistry within oral health care providers' training: A scoping review
Authors: Bakhshaei Anahita , Ramachandran Swathi , Brondani Mario 
Published: January 2024

AbstractIntroductionDespite teledentistry (TD) ubiquitous utilization, it has yet to be fully adopted by oral health care providers' educational training. This study aimed to explore TD incorporation in the training of oral health care providers.MethodsThis review included studies on the TD content offered to oral health care providers. The JBI (Joanna Briggs Institute) methodology was used, and two reviewers screened the literature. Studies published between 1989 and 4 June 2022 were searched using “Teledentistry” and “Education” as initial keywords. The searched databases included MEDLINE, Cochrane Library, CINAHL, EPPI, Scopus, Epistemonikos, ERIC, MedEdPORTAL, ProQuest Dissertations and Theses Global, and Google Scholar. All of the relevant literature, regardless of their language, were added. The data were extracted using an extraction table and are presented in tabular and narrative summary formats.ResultsA total of 2180 documents were found, and 1804 documents were screened by the title and abstract after deduplication; 59 were selected for full‐text review; and 19 were eligible for data extraction. Of all studies, 63.15% were published after the COVID‐19 pandemic. Practicing TD and TD reimbursement were some of the addressed topics. Didactic education and hands‐on practice were the most employed training methods. Self/peer evaluations and surveys were among the employed assessment techniques.ConclusionTD education has been emphasized during the COVID‐19 pandemic. There is a variation in the existing TD educational programmes, from addressing topics to assessment techniques. However, the number of educational programmes on this topic is sparse.
The assessment of emotion reactivity: The Italian validation of the Perth Emotional Reactivity Scale–Short Form (PERS‐S)
Authors: Festucci Fabiana , Pino Maria Chiara , Viselli Lorenzo , D' Aurizio Giulia , Salfi Federico , Amicucci Giulia , Corigliano Domenico , D' Atri Aurora , Ferrara Michele , Tempesta Daniela 
Published: January 2024

AbstractEmotion reactivity refers to the activation, intensity and duration of emotional responses to internal or external stimuli. It can be differentiated from emotion regulation since the former is the very first response to an emotional trigger, and the latter can be defined as a tool for maintaining one's arousal in a window of tolerance. Since, to date, there are no Italian self‐report measures able to evaluate individuals' emotional reactivity, this study aimed to contribute to the Italian validation of the Perth Emotional Reactivity Scale–Short Form (PERS‐S). The PERS‐S is an 18‐item self‐report measure answered on a 5‐point Likert scale that generates six subscale scores and two composite scores, with higher scores indicating higher levels of reactivity. Data from 768 individuals showed that the PERS‐S had good to excellent goodness of fit. The internal consistency was high, with an overall reliability coefficient (Cronbach's α) of .87 and .86 for the negative and positive general scales, respectively. The PERS‐S also demonstrated appropriate convergent validity, showing significant correlations with conceptually related measures, and acceptable divergent validity, showing minimal correlations with unrelated constructs. Finally, we evaluated the Test–Retest Reliability by administering the PERS‐S to the same sample twice, with a 2‐week interval. The significant correlations between the two PERS‐S administrations suggest temporal stability. The Italian version of the PERS‐S will enrich the repertoire of self‐report measures for investigating the development and risk factors of mental health disorders and may have practical applications in clinical settings.
Alterations of resting‐state functional network connectivity in patients with noise‐induced hearing loss: A study based on independent component analysis
Authors: Ranran Huang , Aijie Wang , Yafei Zhang , Xinru Ba , Yi Lin , Xianghua Bao , Yunxin Li , Guochao Li , Guowei Zhang 
Published: January 2024

AbstractFunctional reorganization is a response to auditory deficits or deprivation, and less is known about the overall brain network alterations involving resting‐state networks (RSNs) and multiple functional networks in patients with occupational noise‐induced hearing loss (NIHL). So this study evaluated resting‐state functional network connectivity (FNC) alterations in occupational NIHL using an independent component analysis (ICA). In total, 79 mild NIHL patients (MP), 32 relatively severe NIHL patients (RSP), and 84 age‐ and education‐ matched healthy controls (HC) were recruited. All subjects were tested using the Mini‐mental State Examination scale, the tinnitus Handicap Inventory scale, the Hamilton Anxiety scale (HAMA) and scanned by T1‐3DFSPGR, resting‐state functional magnetic resonance imaging sequence in 3.0 T and analysed by the ICA. Seven RSNs were identified, compared with the HC, the MP showed increased FNC within the executive control network (ECN) and enhanced FNC within the default mode network (DMN) and the visual network (VN); compared with the HC, the RSP showed decreased FNC within the ECN and auditory network (AUN), DMN and VN; no significant changes in FNC were found in the MP compared with the RSP. Furthermore, the correlation analysis between the noise exposure time and hearing loss level, HAMA were both negative, and there were no significant correlations between the abnormal RSNs and the hearing level, noise exposure time and HAMA. These findings indicate that different degrees of NIHL involve different alterations in RSNs connectivity and may reveal the neural mechanisms related to emotion‐related features and functional abnormalities following long‐term NIHL.
Skin microbiome disturbance linked to drought‐associated amphibian disease
Authors: Buttimer Shannon , Moura‐Campos Diego , Greenspan Sasha E. , Neely Wesley J. , Ferrante Lucas , Toledo Luís Felipe , Becker C. Guilherme 
Published: January 2024

AbstractThe onset of global climate change has led to abnormal rainfall patterns, disrupting associations between wildlife and their symbiotic microorganisms. We monitored a population of pumpkin toadlets and their skin bacteria in the Brazilian Atlantic Forest during a drought. Given the recognized ability of some amphibian skin bacteria to inhibit the widespread fungal pathogen Batrachochytrium dendrobatidis (Bd), we investigated links between skin microbiome health, susceptibility to Bd and host mortality during a die‐off event. We found that rainfall deficit was an indirect predictor of Bd loads through microbiome disruption, while its direct effect on Bd was weak. The microbiome was characterized by fewer putative Bd‐inhibitory bacteria following the drought, which points to a one‐month lagged effect of drought on the microbiome that may have increased toadlet susceptibility to Bd. Our study underscores the capacity of rainfall variability to disturb complex host–microbiome interactions and alter wildlife disease dynamics.
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper
Authors: Perucca Emilio , French Jacqueline A. , Aljandeel Ghaieb , Balestrini Simona , Braga Patricia , Burneo Jorge G. , Felli Augustina Charway , Cross J. Helen , Galanopoulou Aristea S. , Jain Satish , Jiang Yuwu , Kälviäinen Reetta , Lim Shih Hui , Meador Kimford J. , Mogal Zarine , Nabbout Rima , Sofia Francesca , Somerville Ernest , Sperling Michael R. , Triki Chahnez , Trinka Eugen , Walker Matthew C. , Wiebe Samuel , Wilmshurst Jo M. , Wirrell Elaine , Yacubian Elza Márcia , Kapur Jaideep 
Published: January 2024

AbstractA variety of terms, such as “antiepileptic,” “anticonvulsant,” and “antiseizure” have been historically applied to medications for the treatment of seizure disorders. Terminology is important because using terms that do not accurately reflect the action of specific treatments may result in a misunderstanding of their effects and inappropriate use. The present International League Against Epilepsy (ILAE) position paper used a Delphi approach to develop recommendations on English‐language terminology applicable to pharmacological agents currently approved for treating seizure disorders. There was consensus that these medications should be collectively named “antiseizure medications”. This term accurately reflects their primarily symptomatic effect against seizures and reduces the possibility of health care practitioners, patients, or caregivers having undue expectations or an incorrect understanding of the real action of these medications. The term “antiseizure” to describe these agents does not exclude the possibility of beneficial effects on the course of the disease and comorbidities that result from the downstream effects of seizures, whenever these beneficial effects can be explained solely by the suppression of seizure activity. It is acknowledged that other treatments, mostly under development, can exert direct favorable actions on the underlying disease or its progression, by having “antiepileptogenic” or “disease‐modifying” effects. A more‐refined terminology to describe precisely these actions needs to be developed.
Exploring coral speciation: Multiple sympatric Stylophora pistillata taxa along a divergence continuum on the Great Barrier Reef
Authors: Meziere Zoe , Popovic Iva , Prata Katharine , Ryan Isobel , Pandolfi John , Riginos Cynthia 
Published: January 2024

AbstractUnderstanding how biodiversity originates and is maintained are fundamental challenge in evolutionary biology. Speciation is a continuous process and progression along this continuum depends on the interplay between evolutionary forces driving divergence and forces promoting genetic homogenisation. Coral reefs are broadly connected yet highly heterogeneous ecosystems, and divergence with gene flow at small spatial scales might therefore be common. Genomic studies are increasingly revealing the existence of closely related and sympatric taxa within taxonomic coral species, but the extent to which these taxa might still be exchanging genes and sharing environmental niches is unclear. In this study, we sampled extensively across diverse habitats at multiple reefs of the Great Barrier Reef (GBR) and comprehensively examined genome‐wide diversity and divergence histories within and among taxa of the Stylophora pistillata species complex. S. pistillata is one of the most abundant and well‐studied coral species, yet we discovered five distinct taxa, with wide geographic ranges and extensive sympatry. Demographic modelling showed that speciation events have occurred with gene flow and that taxa are at different stages along a divergence continuum. We found significant correlations between genetic divergence and specific environmental variables, suggesting that niche partitioning may have played a role in speciation and that S. pistillata taxa might be differentially adapted to different environments. Conservation actions rely on estimates of species richness, population sizes and species ranges, which are biased if divergent taxa are lumped together. As coral reefs are rapidly degrading due to climate change, our study highlights the importance of recognising evolutionarily distinct and differentially adapted coral taxa to improve conservation and restoration efforts aiming at protecting coral genetic diversity.
A fractographic study of fatigue crack growth from a cold expanded fastener hole at an engineering “crack initiation” scale
Authors: Main Ben , Russell David , Barter Simon 
Published: January 2024

AbstractThe effects of cold expansion on fatigue crack growth from fastener holes in aircraft structure are a well‐studied problem, with many contributions focusing on both residual stresses and “long crack” experimental data. In this study, the authors have used quantitative fractography techniques to measure fatigue crack growth from naturally occurring discontinuities on an engineering “crack initiation” scale. Fatigue crack growth rates were measured through the full range of crack depths, allowing the effects of beneficial residual stresses to be directly observed. The almost identical early crack growth rates in cold expanded and non‐cold expanded specimens were demonstrated up to crack depths of approximately 0.1–0.2 mm. Beyond this depth, fatigue crack growth in cold expanded specimens was markedly slowed to the point at which failure ultimately arose from cracks away from, or growing into, the fastener hole. The available life improvement factor for cold expansion is therefore maximized through a crack growth‐based lifing approach.