bluuebunny/crossref_metadata_2025 huggingface dataset:
A comprehensive workflow for allele-specific immune gene quantification and expression analysis in single-cell RNA-seq data
Authors: Al Ajami Ahmad , Schuck Jonas , Marini Federico , Imkeller Katharina
Published: December 2024

Motivation

Immune molecules such as B and T cell receptors, human leukocyte antigens (HLAs), or killer Ig-like receptors (KIRs) are encoded in the most genetically diverse loci of the human genome. Many of these immune genes exhibit remarkable allelic diversity across populations. While computational methods for HLA typing from bulk RNA sequencing data have emerged, streamlined solutions for allele-specific quantification in single-cell RNA sequencing (scRNA-seq) are lacking. Moreover, no standardized data structure or analytical framework has been established to handle allele-specific immune gene expression data at single-cell level.

Results

We present a comprehensive workflow to (1) automate allele-typing and allele-specific expression quantification of HLA transcripts in scRNA-seq data using a Snakemake workflow,scIGD(single-cell ImmunoGenomic Diversity), and (2) represent and interactively explore immune gene expression at different annotation levels using a multi-layer data structure implemented as an R/Bioconductor software package,SingleCellAlleleExperiment. We validated our approach on a diverse spectrum of scRNA-seq datasets, and found that it performs consistently across different sequencing platforms and experimental setups. We illustrate how our method can be utilized to study loss of HLA expression in tumor cells or discover differential HLA allele expression in specific immune cell subtypes. By capturing such allele-specific expression patterns and their variation, our workflow offers novel insights into human immunogenomic diversity.

Availability and implementation

scIGDis available under the MIT license at:https://github.com/AGImkeller/scIGD.SingleCellAlleleExperimentis available under the MIT license at:https://bioconductor.org/packages/SingleCellAlleleExperiment.

scaeDataprovides validation datasets and is available under the MIT license at:https://bioconductor.org/packages/scaeData.

Data processed withscIGDare available at:https://doi.org/10.5281/zenodo.14033960.

Contact

Katharina Imkeller. E-mail:imkeller@rz.uni-frankfurt.de.

Supplementary information

Supplementary data are available within the same submission.
Gasdermin D mediates a fast transient release of ATP after NLRP3 inflammasome activation before ninjurin 1–induced lytic cell death
Authors: Schachter Julieta , Guijarro Adriana , Angosto-Bazarra Diego , Pinilla Miriam , Hurtado-Navarro Laura , Meunier Etienne , Pérez-Oliva Ana B. , Schwarzbaum Pablo J , Pelegrin Pablo
Published: December 2024

Pyroptosis is a lytic cell death triggered by the cleavage of gasdermin (GSDM) proteins and subsequent pore formation by the N-terminal domain oligomerization in the plasma membrane. GSDMD is cleaved by caspase-1/-4/-5/-11 upon inflammasome activation and mediates IL-1β and IL-18 release. GSDMD pores favors ninjurin-1 (NINJ1) induced plasma membrane rupture and cell death. Here, we demonstrate that GSDMD mediates early ATP release upon NLRP3 inflammasome activation independently of NINJ1, occurring before IL-1β release and cell death and constituting an early danger signal. The release of ATP is a transient signal terminated before the cells continue to permeabilize and die. The different N-terminal of GSDMA to E are also able to release ATP and induce monocyte migration towards pyroptotic cells. This study reveals ATP release as an early, and transient danger signal depending on GSDMD plasma membrane permeabilization, independently of the late stages of lytic cell death.
An artificial intelligence-based model for prediction of Clonal Hematopoiesis mutants in cell-free DNA samples
Authors: Arango-Argoty Gustavo , Haghighi Marzieh , Sun Gerald J. , Markovets Aleksandra , Barrett J. Carl , Lai Zhongwu , Jacob Etai
Published: December 2024

Circulating tumor DNA is a critical biomarker in cancer diagnostics, but its accurate interpretation requires careful consideration of clonal hematopoiesis (CH), which can contribute to variants in cell-free DNA and potentially obscure true tumor-derived signals. Accurate detection of somatic variants of CH origin in plasma samples remains challenging in the absence of matched white blood cells sequencing. Here we present an open-source machine learning framework (MetaCHIP) which classifies variants in cfDNA from plasma-only samples as CH or tumor origin, surpassing state-of-the-art classification rates.
Mapping cell-cell fusion at single-cell resolution
Authors: Gardner Andrea L. , Zheng Lan , Howland Kennedy , Saunders Andrew , Ramirez Andrea , Parker Patrik , Iloegbunam Chisom , Morgan Daylin , Jost Tyler A. , Brock Amy
Published: December 2024

Cell-cell fusion is a tightly controlled process in the human body known to be involved in fertilization, placental development, muscle growth, bone remodeling, and viral response. Fusion between cancer cells results first in a whole-genome doubled state, which may be followed by the generation of aneuploidies; these genomic alterations are known drivers of tumor evolution. The role of cell-cell fusion in cancer progression and treatment response has been understudied due to limited experimental systems for tracking and analyzing individual fusion events. To meet this need, we developed a molecular toolkit to map the origins and outcomes of individual cell fusion events within a tumor cell population. This platform, ClonMapper Duo (‘CMDuo’), identifies cells that have undergone cell-cell fusion through a combination of reporter expression and engineered fluorescence-associated index sequences paired to randomly generated nucleotide barcodes. scRNA-seq of the indexed barcodes enables the mapping of each set of parental cells and fusion progeny throughout the cell population. In triple-negative breast cancer cells CMDuo uncovered subclonal transcriptomic hybridization and unveiled distinct cell-states which arise in direct consequence of homotypic cell-cell fusion. CMDuo is a platform that enables mapping of cell-cell fusion events in high-throughput single cell data and enables the study of cell fusion in disease progression and therapeutic response.
Error reduction in leukemia machine learning classification with conformal prediction
Authors: Lysenkova Wiklander Mariya , Zachariah Dave , Krali Olga , Nordlund Jessica
Published: December 2024

Purpose

Recent advances in machine learning (ML) have led to the development of classifiers that predict molecular subtypes of acute lymphoblastic leukemia (ALL) using RNA sequencing (RNA-seq) data. While these models have shown promising results, they often lack robust performance guarantees. The aim of this study was three-fold: to quantify the uncertainty of these classifiers; to provide prediction sets that control the false negative rate (FNR); and to perform implicit reduction by transforming incorrect predictions into uncertain predictions.

Methods

Conformal prediction is a distribution-agnostic framework for generating statistically calibrated prediction sets whose size reflects model uncertainty. In this study, we applied an extension called conformal risk control to ALLIUM, an RNA-seq ALL subtype classifier. Leveraging RNA-seq data from 1042 patient samples taken at diagnosis, we developed a multi-class conformal predictor, ALLCoP, which generates statistically guaranteed FNR-controlled prediction sets.

Results

ALLCoP was able to create prediction sets with specified FNR tolerances ranging from 7.5-30%. In a validation cohort, ALLCoP successfully reduced the FNR of the ALLIUM classifier from 8.95% to 3.5%. For cases whose subtype was not previously known, the use of ALLCoP was able to reduce the occurrence of empty predictions from 37% to 17%. Notably, up to 34% of the multiple-class prediction sets included the PAX5alt subtype, suggesting that increased prediction set size may reflect secondary aberrations and biological complexity, contributing to classifier uncertainty. Finally, ALLCoP was validated on two additional RNA-seq ALL subtype classifiers, ALLSorts and ALLCatchR.

Conclusion

Our results highlight the potential of conformal prediction in enhancing the use of oncological RNA-seq subtyping classifiers and also in uncovering additional molecular aberrations of potential clinical importance.
PARP inhibitor counteracts Temozolomide Resistance in Glioblastoma Multiforme
Authors: Samarut Edouard , Gaston Tabourel , Joséphine Briand , Yuna Landais , Catherine Gratas , Pierre-François Cartron , François Vallette , Lisa Oliver , Aurélien Sérandour A.
Published: December 2024

Glioblastoma multiforme (GBM), a highly aggressive brain tumor, frequently develops resistance to temozolomide (TMZ), the current standard chemotherapy. Our study investigates the potential of combining TMZ with the poly (ADP-ribose) polymerase inhibitor Olaparib (OLA) to overcome TMZ resistance. Usingin vitromodels, including U251 cell lines and patient-derived GBM primary cultures, we demonstrate that OLA enhances TMZ efficacy by disrupting base excision repair and potentiating DNA damage-induced cytotoxicity. A CRISPR knockout screen identified DNA mismatch repair (MMR) gene deficiencies as key drivers of TMZ resistance, which OLA effectively counteracts. Co-treatment with TMZ and OLA significantly reduced tumor cell viability, even in MMR-deficient and MGMT-expressing contexts, suggesting a synergistic mechanism. Gene expression analysis revealed that the combination therapy impacts cell cycle regulation, stress responses, and extracellular matrix integrity, leading to mitotic catastrophe and apoptosis. These findings propose the TMZ-OLA combination as a promising therapeutic strategy for overcoming chemoresistance in GBM.
From boardroom to sustainability reporting: stakeholder-RBV insights into ESG disclosures among Malaysian banks
Authors: Lui Tze Kiat , Zainuldin Mohd Haniff
Published: December 2024

Purpose

Strengthening ESG strategies in Malaysian banks is necessary as they continue to face difficulties integrating ESG into their strategies and disclosure despite existing government frameworks. This study aims to use stakeholder-resource-based view (RBV) concept to explore how board characteristics and ownership concentration influence ESG disclosure practices in Malaysian banks.

Design/methodology/approach

The study analysed annual, environmental, social and governance (ESG) and integrated reports of Malaysian banks from 2010 to 2022 to examine the effects of board characteristics on ESG disclosures. Using content analysis and 481 balanced data sets, ordinary least squares (OLS) and robust regressions were applied, with interaction terms testing the moderating effects of ownership concentration.

Findings

Board independence negatively impacts ESG disclosure in Malaysian banks, suggesting that independent directors may not prioritise sustainability. Board size, diversity and sustainability committees positively influence ESG practices. Ownership concentration interactions reinforce these findings, but board independence remains negatively significant.

Research limitations/implications

Future research should expand the sample to other emerging markets, explore a wider range of bank board attributes and use advanced econometric methods to increase the generalisability of the results.

Practical implications

The study impacts theory, financial institutions and policy, redefining ESG practices in Malaysian banking. It highlights the role of board characteristics and the importance of ownership concentration. Several practical recommendations are provided.

Social implications

The study impacts theory, financial institutions and policy by redefining ESG practices within Malaysian banking. It highlights the significance of board characteristics and ownership concentration, offering several practical recommendations.

Originality/value

The study fills gaps in the literature by examining the impact of board characteristics on ESG disclosures through content and statistical analyses. It integrates stakeholder theory with RBV to provide novel insights into ESG reporting in Malaysian banks, highlighting the role of high ownership concentration in emerging markets.
The text mining approach to investigate active areas of library and information science and discover emerging topics
Authors: Nemati-Anaraki Leila , Dehghan Sogand , Asadzandi Shadi , Malgard Shiva
Published: December 2024

Purpose

This study aims to adopt text mining to discover emerging topics in librarianship and information science research in the last decade. Based on the number of citations obtained during the previous 10 years, the authors selected emerging topics in this study and evaluated the strength of their presence. Additionally, the authors determined if the trend was substantial over time and identified the active topics in library and information science (LIS) through the past 10 years.

Design/methodology/approach

All library and medical information studies were retrieved by the WC = “Information Science & Library Science” tag in the Web of Science. Python programming was used for data analysis. The topics were identified by combining the unsupervised deep learning algorithms TOP2VEC and the term frequency-inverse document frequency and also the Mann–Kendall trend test is used to determine whether the trend was significant over time.

Findings

Following text mining, the total data from 2012 to 2021 was 63,712. Eleven main topics were also extracted: academic education of LIS, acquisition and collection development, publishing articles, cataloging and classification, journalism, knowledge management, infometrics, social media, university ranking, information and communication technologies and information storage and retrieval. Knowledge management has experienced the greatest growth over the past 10 years.

Originality/value

This analysis reveals which fields are prioritized and which are neglected by the LIS. The findings of this study can help researchers discover newer topics, focus on less-seen subjects and prevent repetitive research in one area.
Educators and students in entrepreneurship education are challenging the “think entrepreneur–think male” paradigm
Authors: Stoker Saskia , Wakkee Ingrid , Khapova Svetlana
Published: December 2024

Purpose

The paradigm “think entrepreneur–think male” continues to prevail in entrepreneurship education (EE). Aiming to explore how EE educators and EE students engage with this paradigm, this paper examines how students’ beliefs about entrepreneurship are shaped within the classroom.

Design/methodology/approach

This study is based on a single case comprising 32 interviews with EE students and educators from a variety of higher education institutions in the Netherlands. Observations were conducted in a learning environment where undergraduate students from a range of EE minors (general, social and tech entrepreneurship) collaborated on projects under the guidance of entrepreneurship educators.

Findings

Our findings reveal that gendered constructs are deeply embedded in EE, shaping perceptions of entrepreneurship. However, these constructs are changing and challenging the “think entrepreneur–think male”.

Originality/value

This study contributes to gender and entrepreneurship literature by challenging the existence of the prevailing paradigm “think entrepreneur–think male” in EE. We emphasise the importance of acknowledging individual entrepreneurial motivations while recognising gendered constructs in entrepreneurial support and resource access.
Social norms and consumption tax evasion: unpacking passive consumer participation
Authors: Srivastava Himanshu Shekhar , Singh Gurbir , Kaushik Arun Kumar
Published: December 2024

Purpose

The purpose of this study is to explore the social norms influencing consumer participation in consumption tax evasion (CTE) by examining both passive and active roles from a social marketing perspective. The study aims to identify the factors that prompt consumers to engage in or abstain from CTE, with a particular focus on the interplay of descriptive and injunctive norms and perceived consumer effectiveness (PCE).

Design/methodology/approach

The study utilizes a scenario-based experimental design involving 306 respondents in India, stratified by demographics and tax compliance attitudes. We used the PROCESS Macro to analyze the data using established scales for measuring descriptive and injunctive norms and PCE.

Findings

The results indicate that descriptive norms significantly increase the intention to engage in CTE, while injunctive norms weaken this relationship. PCE strengthens the moderating effect of injunctive norms. These findings highlight the mechanisms driving passive participation in CTE.

Social implications

This study underscores the importance of societal norms and individual efficacy beliefs in shaping ethical behaviors such as tax compliance. By understanding these factors, governments can better design social marketing campaigns and public policies that foster a more compliant and ethically aware society.

Originality/value

The originality of this research lies in its examination of both passive and active consumer participation in CTE, a relatively understudied area within tax compliance literature. It extends the discourse on social norms and tax evasion by incorporating the nuanced roles of descriptive and injunctive norms and offers valuable insights for academicians, tax authorities and policymakers interested in behavioral interventions.
Navigating complexities: gaming addiction, anger expression and social interaction among adolescent boys in Pakistan
Authors: Muazzam Amina , Fatima Shameem , Shabbir Aqsa , Iqbal Naveed , Zia Sahar , Tauseef Huma
Published: December 2024

Purpose

Video gaming has become a popular leisure-time activity with two to three billion users worldwide (Newzoo, 2017; Vuong et al., 2021). Although existing knowledge shows its relationship with anger and aggression, the present study aims to extend this focus by assessing whether anger expression mediates the association of gaming addition with social interaction among Pakistani adolescent boys.

Design/methodology/approach

A sample of 300 adolescent boys (M age = 14.6, SD = 1.2) from private schools was selected. The participants were assessed on Anger Expression Scale (Shafaqat, 2016), Social Interaction and Technology Use Questionnaire (Henderson et al., 1999) and Game Addiction Scale (Lemmens et al., 2009) to assess their levels of anger expression, social interaction and gaming addiction.

Findings

Analysis revealed that gaming addiction and anger expression were significantly and negatively related to social interaction. Gaming addiction was positively correlated with anger expression. Mediation analyses showed that anger expression significantly explained the negative link between gaming addiction and social interaction.

Originality/value

The study highlights anger and lack of social interaction as important consequences of gaming addiction in adolescent boys.
Nonlinear model of temperature distribution in a ventilated facades and an analytical approach for analysis
Authors: Pankratov Evgeny L.
Published: December 2024

Purpose

This paper introduces a model for analysis of spatiotemporal distribution of temperature between the wall of a building and the facing of a facade with possible convection air movement. In the framework of the considered model one can take into account native convection of air and possibility of forced convection. This paper aims to analyze the considered distribution of temperature. Also an analytical approach for analysis of the considered distribution to increase predictability of the heat transport with native and forced convection is considered.

Design/methodology/approach

In this paper we introduce a model for analysis of spatio-temporal distribution of temperature between the wall of a building and the facing of a facade with account possible convection air movement has been analyzed. In the framework of the considered model one can take into account native convection of air and possibility to take into account forced convection. We analyzed the considered distribution of temperature. Also we consider an analytical approach for analysis of the considered distribution to increase of predictability of the heat transport with account native and forced convection.

Findings

In this paper we introduce a model for analysis of spatio-temporal distribution of temperature between the wall of a building and the facing of a facade with account possible convection air movement has been analyzed. In the framework of the considered model one can take into account native convection of air and possibility to take into account forced convection. We analyzed the considered distribution of temperature. Also we consider an analytical approach for analysis of the considered distribution to increase of predictability of the heat transport with account native and forced convection.

Originality/value

This paper is original.
Multi‐omic analysis of biological aging biomarkers in long‐term calorie restriction and endurance exercise practitioners: A cross‐sectional study
Authors: Fiorito Giovanni , Tosti Valeria , Polidoro Silvia , Bertozzi Beatrice , Veronese Nicola , Cava Edda , Spelta Francesco , Piccio Laura , Early Dayna S. , Raftery Daniel , Vineis Paolo , Fontana Luigi
Published: December 2024

Calorie restriction (CR) and physical exercise (EX) are well‐established interventions known to extend health span and lifespan in animal models. However, their impact on human biological aging remains unclear. With recent advances in omics technologies and biological age (BioAge) metrics, it is now possible to assess the impact of these lifestyle interventions without the need for long‐term follow‐up. This study compared BioAge biomarkers in 41 middle‐aged and older adult long‐term CR practitioners, 41 age‐ and sex‐matched endurance athletes (EX), and 35 sedentary controls consuming Western diets (WD), through PhenoAge: a composite score derived from nine blood‐biomarkers. Additionally, a subset of participants (12 CR, 11 EX, and 12 WD) underwent multi‐omic profiling, including DNA methylation and RNAseq of colon mucosa, blood metabolomics, and stool metagenomics. A group of six young WD subjects (yWD) served as a reference for BioAge calculation using Mahalanobis distance across six omic layers. The results demonstrated consistently lower BioAge biomarkers in both CR and EX groups compared to WD controls across all layers. CR participants exhibited lower BioAge in gut microbiome and blood‐derived omics, while EX participants had lower BioAge in colon mucosa‐derived epigenetic and transcriptomic markers, suggesting potential tissue‐specific effects. Multi‐omic pathway enrichment analyses suggested both shared and intervention‐specific mechanisms, including oxidative stress and basal transcription as common pathways, with ether lipid metabolism uniquely enriched in CR. Despite limitations due to sample size, these findings contribute to the broader understanding of the potential anti‐aging effects of CR and EX, offering promising directions for further research.
Multiomic Integration Analysis for Monitoring Severe Asthma Treated With Mepolizumab or Omalizumab
Authors: Contreras Nuria , Escolar‐Peña Andrea , Delgado‐Dolset María I. , Fernández Paloma , Obeso David , Izquierdo Elena , Cuervo Heleia González , Cumplido José Ángel , Múgica Victoria , Cisneros Carolina , Angulo‐Díaz‐Parreño Santiago , Barbas Coral , Blanco Carlos , Carrillo Teresa , Barber Domingo , Villaseñor Alma , Escribese María M.
Published: December 2024

Rationale

Biologics are becoming increasingly important in the management of severe asthma. However, little is known about the systemic immunometabolic consequences of Th2 response blockage.

Objectives

To provide a better immunometabolic understanding of the effects of mepolizumab and omalizumab treatments by identifying potential biomarkers for monitoring.

Methods

In this exploratory longitudinal study severe asthmatic patients were followed for 18 months after initiating mepolizumab (n = 36) or Omalizumab (n = 20) treatment. Serum samples were collected before, 6, and 18 months after treatment. Targeted omic approaches were performed to analyze inflammatory metabolites (n = 35) and proteins (n = 45). Multiomic integration was performed individually for each treatment applying supervised analysis Data Integration Analysis for Biomarker discovery using Latent cOmponents (DIABLO) framework. Then, potential biomarkers were confirmed using multivariate ROC analyses and correlated with clinical variables along treatment.

Measurements and Main Results

Mepolizumab and omalizumab were both effective (improved clinical variables) and showed different and specific metabolic and protein profiles in severe asthmatic patients during treatment. Multiomic integration and multivariate ROC analyses identified specific biomarkers, such as arachidonic acid, palmitoleic acid, oleic acid, propionylcarnitine, bilirubin, CCL11, and TNFSF10, which can explain the differences observed with Mepolizumab treatment over 18 months and significantly correlate with clinical improvement. However, no significant biomolecules and no discriminative multivariate ROC curves were found for Omalizumab treatment.

Conclusions

Our results provide a comprehensive insight into the differential effects of mepolizumab and omalizumab on the immunometabolic kinetics of the inflammatory response in severe asthma. We identified a set of biomolecules with potential for monitoring mepolizumab treatment which could be useful for personalized medicine.
Early milk cereal drink consumption correlated with rapid weight gain but not with subsequent adiposity
Authors: Lindholm Annelie , Lin Qinyun , Hebestreit Antje , Lissner Lauren , Papoutsou Stalo , Hunsberger Monica
Published: December 2024

Aim

The role of infant nutrition in rapid weight gain (RWG) is not well understood. This study investigated associations between milk cereal drinks, early RWG, and later body mass index (BMI) and waist‐to‐height ratio (WHtR).

Methods

In total, 1333 children, from three communities in Western Sweden constituted the combined IDEFICS–I. Family cohort. Data were obtained retrospectively from the National Medical Birth Register, child health centres and school health services. Anthropometric data and parental reported food habits were collected in the 2007–2008 IDEFICS baseline survey. Follow‐up data for 656 children were collected in the 2013–2014 I. Family survey. Linear and logistic regressions were used.

Results

At baseline, 820 (62%) of the 658 boys and 675 girls, median age 6.0 years, interquartile range 4.0–7.5 years, consumed milk cereal drinks and 229 (18%) had early RWG. Milk cereal drinks were associated with early RWG without effects on later BMI or WHtR status 6 years later. Early RWG was predictive of higher anthropometric measures later in childhood, particularly abdominal adiposity.

Conclusion

Despite early‐life correlations between RWG and milk cereal drinks, this study could not demonstrate a long‐term detrimental association between milk cereal drinks and BMI or WHtR.
Introduction and Short‐Term Outcomes of Robot‐Assisted Transabdominal Preperitoneal Inguinal Hernia Repair at a Municipal Hospital by a Robotic Surgery Novice: A Single‐Center, Observational Study
Authors: Arai Hiroto , Matsushita Hidenobu , Kawase Yoshihisa , Okochi Osamu , Takeda Shigeomi , Yoshida Koichi , Tanaka Hideaki , Hirayama Taichi , Yamamoto Hiroyasu , Tsuboi Takuma , Noji Yuta , Kimura Kaito , Makinoya Koji
Published: December 2024

Introduction

Robot‐assisted transabdominal preperitoneal inguinal hernia repair (RTAPP) has been rapidly gaining popularity. However, RTAPP is currently limited to university hospitals and large medical centers and is performed mainly by experts in robotic surgery in Japan. In this study, we report the introduction of RTAPP at a municipal hospital by a robotic surgery novice and its short‐term outcomes.

Methods

We reviewed the data of patients with inguinal hernias who underwent RTAPP performed by a single surgeon between November 2023 and May 2024 and evaluated its safety and short‐term outcomes. A comparative study was conducted using laparoscopic transabdominal preperitoneal inguinal hernia repair (LTAPP) performed by the same surgeon.

Results

We identified 13 lesions in 11 patients (unilateral in nine; bilateral in two) in the RTAPP group. The median operative time for unilateral cases was 137 (interquartile range [IQR], 75–200) min, with a console time of 98 (IQR, 40–156) min. The time for dissection, mesh placement, and peritoneal suturing was 67 (IQR, 44–79), 5 (IQR, 5–7), and 11 (IQR, 11–15) min, respectively. To date, no complications or recurrence has been observed in any of these cases. No significant difference in operational time was observed for unilateral cases between the RTAPP and LTAPP groups (137 min vs. 104; p = 0.129).

Conclusion

Our study suggests that RTAPP is safe and feasible, even at a municipal hospital, by a robotic surgery novice. Moreover, RTAPP is comparable to LTAPP in terms of performance.
Paleo‐evo‐devo implications of a revised conceptualization of enameloids and enamels
Authors: Houée Guillaume , Goudemand Nicolas , Germain Damien , Bardin Jérémie
Published: December 2024

Understanding the origin and evolution of the mineralized skeleton is crucial for unravelling vertebrate history. However, several limitations hamper our progress. The first obstacle is the lack of uniformity and clarity in the literature for the definition of the tissues of concern, especially of enameloid(s) and enamel(s), resulting in ambiguous terminology and inconsistencies among studies. Moreover, the identification criteria currently employed to characterize hypermineralized tissues in extinct taxa, such as the presence or absence of tubules for enameloids, may lead to unsupported conclusions. We suggest that comparative developmental studies may be key to unambiguous terminology, truly diagnostic identification criteria and developmentally informed evolutionary hypotheses. We exemplify this approach by: (i) introducing a new conceptual framework for enameloid(s) and enamel(s), with clear terminologies, definitions and interactions between concepts; (ii) suggesting more rigorous ways to identify tissues, based on the observation of defining or additional properties, as well as on the comparison of developmental scenarios when possible; (iii) constructing a clear phylogenetic framework to discuss their homologies and highlighting possible transitions between these tissues; and by (iv) proposing developmental models that explain both enamel and enameloid formation, and suggest possible transitions between them.
Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease
Authors: Feiskhanov Aygiz , Ibragimova Aigul , Gaysina Elina , Boulygina Eugenia , Rizvanov Albert , Miftakhova Regina , Filina Yulia
Published: December 2024

VEGFR3 (FLT4) is crucial for embryonic lymphangiogenesis, and defects in this receptor can lead to congenital lymphedema type 1A (Milroy disease). This study analyses FLT4 gene sequence in 24 primary lymphedema patients, identifying genetic variants in five patients resembling typical Milroy disease. A novel likely pathogenic variant (c.3028A>C) was identified, and the pathogenicity of two previously described variants (c.3175G>C and c.3298T>C) was supported.
Perceptual Cue Weighting Matters in Real‐Time Integration of Acoustic Information During Spoken Word Recognition
Authors: Kim Hyoju , Tremblay Annie , Cho Taehong
Published: December 2024

This study investigates whether listeners’ cue weighting predicts their real‐time use of asynchronous acoustic information in spoken word recognition at both group and individual levels. By focusing on the time course of cue integration, we seek to distinguish between two theoretical views: the associated view (cue weighting is linked to cue integration strategy) and the independent view (no such relationship). The current study examines Seoul Korean listeners’ (n = 62) weighting of voice onset time (VOT, available earlier in time) and onset fundamental frequency of the following vowel (F0, available later in time) when perceiving Korean stop contrasts (Experiment 1: cue‐weighting perception task) and the timing of VOT integration when recognizing Korean words that begin with a stop (Experiment 2: visual‐world eye‐tracking task). The group‐level results reveal that the timing of the early cue (VOT) integration is delayed when the later cue (F0) serves as the primary cue to process the stop contrast, supporting a relationship between cue weighting and the timing of cue integration (the associated view). At the individual level, listeners with greater reliance on F0 than VOT exhibited a further delayed integration of VOT. These findings suggest that the real‐time processing of asynchronously occurring acoustic cues for lexical activation is modulated by the weight that listeners assign to those cues, providing evidence for the associated view of cue integration. This study offers insights into the mechanisms of cue integration and spoken word recognition, and they shed light on variability in cue integration strategies among listeners.
Facial bone fracture repair using ultrasound‐aided pin fixation of resorbable plates in two horses
Authors: Heidemeyer S. , Fürst A. E. , Meyers M. , Jackson M. A.
Published: December 2024

This report describes the application of a resorbable implant (Resorb‐Vet) made of poly‐(DL) lactide (PDLLA) for the repair of a maxillary fracture in one horse and a nasal bone fracture in another. The horses were positioned in lateral recumbency and the fracture was reduced. An absorbable plate was moulded to the bone and fixed with PDLLA pins, which were attached to an ultrasonic device and inserted into predrilled holes by ultrasonic vibrations. Once the pins contacted the bone, the ultrasonic vibrations caused liquefication of the PDLLA, which infiltrated the bone and solidified after the ultrasonic vibrations ceased. Immediate primary stability was achieved with this technique. Both horses recovered well, were discharged without complications and returned to their previous level of activity.
Discospondylitis as a consequence of jugular vein septic thrombophlebitis in a Standardbred gelding
Authors: Payette F. , Demchur J. A. , Bills K. W. , Levine D. G. , Johnson A. L.
Published: December 2024

This report describes the identification of C7‐T1 discospondylitis on myelography and confirmed on postmortem computed tomography and necropsy in a 4‐year‐old Standardbred gelding as the consequence of jugular vein catheterisation and secondary septic thrombophlebitis. Staphylococcus aureus was isolated from both sites. Diagnosis was complicated by non‐specific signs of pain and the acute presentation of the gelding. Clinical signs included cervical pain, low head carriage, fever and ataxia. Antimicrobial therapy and multimodal pain management were initiated but were unsuccessful. Spread of infection from septic thrombophlebitis has uncommonly been reported in horses, and this is the first reported case of secondary discospondylitis in this species.
Cocreating Inclusion in Scottish Charity Governance: Toward a Dialogic Approach
Authors: Lambert Vicky , Farooqi Seemab , Jackson William , Scarparo Simona
Published: December 2024

Placing beneficiaries at the center of governance and accountability arrangements in charities is widely acknowledged as critical, however, engaging these individuals in a meaningful way represents a fundamental challenge. Mechanisms to facilitate this remain underdeveloped and there is limited understanding of how this can be operationalized within the governance structures of charities, particularly in relation to marginalized groups. This paper contributes to filling this gap by undertaking a longitudinal case study of a Scottish human rights‐based charity working with individuals with learning difficulties, exploring how beneficiary participation can be operationalized in practice. A framework is developed which integrates critical dialogic accountability with coproduction principles, providing a unique perspective on how participatory governance can foster greater social inclusion of individuals with learning difficulties.
Cultivating Public Value and Accountability Beyond NPM: A Non‐Western Perspective
Authors: Ang Soon Yong , Wickramasinghe Danture
Published: December 2024

This paper reveals the limitations of New Public Management (NPM) and introduces an alternative model for creating and sustaining public value through grassroots engagement in a non‐Western context. Focusing on a river‐care education project in Malaysia, it demonstrates how community‐led initiatives, targeting public values like clean water (SDG 6) and partnerships for goals (SDG 17), interact with local management practices to foster sustainable outcomes. Drawing on Bozeman's public value theory and Dewey's public interest approach, we present a multi‐layered framework incorporating political–ideological, institutional, techno‐managerial, and individual layers. This model emphasizes culturally responsive, localized practices and reveals that NPM's market‐driven focus does not fully address societal goals like equity, sustainability, and social justice. Through a qualitative case study approach and by proposing an adaptive, context‐sensitive approach, this study contributes to public sector accounting and management research, providing a pathway to public value creation aligned with Sustainable Development Goals in diverse, non‐Western settings.
Family networks of lesbian and gay people in Switzerland
Authors: Ganjour Olga , Widmer Eric D. , Roca i Escoda Marta
Published: December 2024

Objective

The aim of this study was to estimate the relevance of the family of choice hypothesis in family networks of lesbian and gay individuals living in Switzerland and its implications for their social capital.

Background

Over the past three decades, family scholars have paid more attention to the emergence of family configurations of LGBTQ+ people that extend beyond the nuclear family and blood kin, with voluntary kin and family of choice playing a key role. However, family networks of lesbian and gay individuals remain an unexplored topic in Switzerland, a country that has taken an extended period to implement institutional acknowledgment of lesbian and gay family rights.

Method

Personal network methods were used to map the main types of family networks of lesbian and gay individuals. In collaboration with an association advocating for lesbian and gay families in Switzerland, the study collected ego‐centered network data on their family.

Results

The results reveal that the nuclear family holds prominence in many family networks of lesbian and gay people included in the sample, with limited involvement of either blood kin or voluntary kin, which has consequences for their family‐based social capital.

Conclusion

The family of choice hypothesis is largely rejected. The focus on the nuclear family is consistent with the late legal recognition of same‐sex marriage and parenthood in Switzerland.

Implications

The importance of the nuclear family in the family networks of LGBTQ+ people, as well as the relative diversity of such networks, should be considered by professionals dealing with health and social issues, as well as by legislators, policymakers, and organizations working to promote the family rights of lesbian and gay people and their full social acceptance.
Real‐World Retrospective Audit on the Use of the TechnoClone TECHNOSCREEN ADAMTS‐13 Assay in the Diagnostic Process for Thrombotic Thrombocytopenic Purpura at LabPlus, New Zealand
Authors: Wong Stephen Hong Chun , Thalari Gabriel , Ruskova Anna , Eaddy Nicola
Published: December 2024

Introduction

The TECHNOSCREEN ADAMTS‐13 assay (ADSC) is a new lateral flow test which is simple and quick to perform, with a high negative predictive value (NPV); it may improve the diagnostic workflow for TTP. LabPlus in Auckland, New Zealand, performs all ADAMTS13 tests in the Auckland and Northland regions. The ADSC was used at LabPlus between 2022 and 2023 as part of a protocol where results of 0 IU/mL and 0.1 IU/mL were confirmed with the TECHNOZYM ADAMTS‐13 Activity chromogenic ELISA assay (ADATS). The aim was to improve cost efficiency by reducing the need for the labour‐intensive ADATS, particularly in low probability requests. This retrospective audit analyses the efficacy and efficiency of the testing protocol.

Methods

All ADAMTS‐13 tests performed in the year before the ADSC (March 2021–March 2022) and after the ADSC protocol was introduced (March 2022–March 2023) were collected from the LabPlus laboratory information system (LIS), and correlated with clinical information from the electronic health record. Statistical analysis was performed.

Results

Ninety‐four test requests were audited. ADSC had an NPV of 100% on diagnostic samples. The protocol increased the median turn‐around time (TAT) by 18 h (p = 0.01). If an ADSC of 0.1 IU/mL was taken as a negative, the median TAT was decreased by 17 h (p = 0.0003) in diagnostic samples from LabPlus adjacent hospitals.

Conclusion

ADSC has a high NPV but did not improve TAT when used as part of a testing protocol for our central laboratory receiving samples from a large area.
Fast and cost‐efficient species identification of Atlantic salmon (Salmo salar L.), brown trout (Salmo trutta), and their hybrids using a single SNP marker
Authors: Aykanat Tutku , Balatsou Athina , Kähkönen Kirsi , Syrjänen Jukka T. , Janhunen Matti , Leinonen Tuomas , Prokkola Jenni M. , Norrgård Johnny R. , Piccolo John J.
Published: December 2024

A workflow for developing a cost‐ and time‐efficient, single nucleotide polymorphism (SNP)‐based assay for species and hybrid identification is described. In a reference set (n = 46), the developed assay identified individuals of two closely related species, the Atlantic salmon (Salmo salar L., n = 23) and brown trout (Salmo trutta, n = 23), with 100% accuracy. Furthermore, species and hybrid identification using field‐collected embryos had 98.1% concordance (155/158) to more expensive and time‐consuming methods that utilized multiple SNP markers. The method can be integrated into management and conservation plans to quantify species' spawning distribution and hybridization rates.
Molecular Detection of a Novel Poxvirus in Black Bullhead (Ameiurus melas): Emerging Pathogens in a Natural Freshwater in Hungary?
Authors: Abonyi Flóra , Doszpoly Andor , Czeglédi István , Eszterbauer Edit
Published: December 2024

Unexpected mass mortality of black bullhead Ameiurus melas (Rafinesque, 1820) fingerlings occurred 1 week after their arrival at our animal facility. The specimens of the invasive fish species originated from Lake Balaton, the largest natural freshwater lake in Hungary. The mortality reached 100% within 3 days. Gross pathological examination detected inflammation in the inner organs, renomegaly, and a marble, pale pink liver. Two pathogenic bacteria strains, Vibrio cholerae Pacini, 1854, and Plesiomonas shigelloides (Bader 1954), were detected in the fish liver examined. The molecular virological examination showed the presence of the nucleic acid of two dsDNA viruses. One is the Ictalurid herpesvirus 2 (IcHV‐2), which is a well‐known pathogen of the black bullhead that has only been reported from Italian fish farms previously. This is the first report of IcHV‐2 from a natural freshwater habitat. The other viral DNA detected in fish belongs to an unidentified virus species. Sequence analysis of the partial DNA polymerase gene confirmed that the novel virus is a member of the subfamily Chordopoxvirinae within the family Poxviridae. Although the causative agent of this mass mortality could not be identified with certainty, the clinical signs suggest that the detected viruses are the most suspicious. Furthermore, our results highlight that the health monitoring of invasive species is also important for the timely detection of pathogens that threaten the native fish fauna.
Microscopic and Macroscopic Analysis of Purple Sweet Potato Dried Products Following Vacuum Steam Pulsation Blanching Pretreatment
Authors: Wang Dong , Zhao Yifan , Niu Yao , Sun Haoyuan , Yuan Yuejin
Published: December 2024

To improve the drying efficiency and quality of purple sweet potatoes after blanching pretreatment, this study employed three methods: hot water blanching (HWB), microwave blanching (MB), and vacuum steam pulsed blanching (VSPB). The impact of different blanching methods on the microstructural parameters and macroscopic performance of purple sweet potatoes was investigated using techniques such as paraffin sectioning, microscopic observation, and image processing. The results indicated that, at the microscopic level, the proportion of large cells after VSPB was significantly higher than that after hot water and MB, being 15.81%, 5.15%, and 25.68%, respectively. At the macroscopic level, samples pretreated with VSPB had the shortest drying time (210 min), the highest rehydration ratio (RR) (3.988), and the best chewiness (2095.44 g). Further studies explored the effects of blanching vacuum degree, blanching time, and blanching frequency on the distribution of various microstructural parameters of purple sweet potato tissue cells. Through nonlinear polynomial fitting, a fitting equation was established between the microstructural parameters after VSPB and the macroscopic RR and browning index. The determination coeffi cients R2 of the established mathematical models and the predicted results were all greater than 0.8. The findings of this study provide an important reference for exploring the mechanism of the impact of VSPB pretreatment on the microstructural parameters and macroscopic performance of purple sweet potatoes and offer a theoretical basis for the design of drying equipment.
Relationship Between Fear of Childbirth and Oral Health‐Related Quality of Life in Pregnant Women: The Mediating Effect of Pregnancy Anxiety
Authors: Chen Yujia , Zhao Jing , Zheng Jin , Zou Zhijie , Chen Xiaoli
Published: December 2024

Background

Psychosocial health affects oral health‐related quality of life. Pregnancy, as a special time for women, produces significant psychological changes. However, the relationship between mental health during pregnancy and oral health‐related quality of life is unclear.

Objective

The study aims to explore the association between fear of childbirth and investigate the mediating effect of pregnancy anxiety.

Methods

Using a cross‐sectional design, 478 pregnant women were recruited and evaluated using the Fear of Birth Scale, the Pregnancy‐Related Anxiety Questionnaire and the Oral Health Impact Profile‐14. Multiple linear regressions were performed to evaluate the relationship between fear of childbirth and oral health‐related quality of life. PROCESS software was applied to assess the mediating effect of pregnancy anxiety.

Results

Both fear of childbirth and pregnancy anxiety were negative correlation with oral health‐related quality. Pregnancy anxiety mediated 40% of the association between fear of childbirth and oral health‐related quality of life (β = 0.072, SE = 0.030, 95% CI [0.015, 0.131]).

Conclusions

Pregnancy anxiety mediates the relationship between fear of childbirth and oral health‐related quality of life in pregnant women. To improve the oral health‐related quality of life among pregnant women, relevant healthcare workers should actively help pregnant women to improve psychological health.