bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome
Authors: He Pei , Liu Siping , Shi Xiao , Huang Chuyu , Li Wenfeng , Wu Jiamin , Li Huixi , Liu Junting , Wen Yuyuan , Zhang Weiqing , Qiu Zhuolin , Luo Chen , Hua Rui 
Published: October 2024

ABSTRACTEmpty follicle syndrome (EFS) is a disorder characterised by the unsuccessful retrieval of oocytes from matured follicles following ovarian stimulation for in vitro fertilisation (IVF). Genetic factors significantly contribute to this pathology. To date, an increasing number of genetic mutations associated with GEFS have been documented, however, some cases still remain unexplained by these previously reported mutations. Here, we identified a novel homozygous missense ZP1 variant (c.1096 C > T, p.Arg366Trp) in a female patient with GEFS from a consanguineous family who failed to retrieve any oocytes during two cycles of IVF treatment. We conducted a molecular dynamics simulation analysis on the mutant ZP1 model, revealing that the mutant ZP1 protein has an altered 3D structure, lower fluctuation, higher compactness and higher instability than wild‐type ZP1. Immunostaining, immunoblotting and co‐immunoprecipitation results showed that the homozygous missense mutation in ZP1 impaired protein secretion and weakened interactions between ZP1 and other ZP proteins, which may affect the ZP assembly. This study contributes to a more comprehensive understanding of the genetic aetiopathogenesis of GEFS.
Butterfly species vary in sex‐specific sodium accumulation from larval diets
Authors: Santiago‐Rosario Luis Y. , Shephard Alexander M. , Snell‐Rood Emilie , Herrmann Achim D. , Harms Kyle E. 
Published: October 2024

Abstract
Sodium is essential for animals, and its heterogeneous distribution can cause a range of phenomena, from sodium‐seeking behaviours to impacting their performance. Although sodium content in soils and plants is relatively well documented, data for higher trophic levels are limited. Knowledge of the variation in sodium in lower trophic levels could have implications for understanding the behaviour and physiology of species at higher levels.
We investigated the variation in tissue sodium concentration between males and females of four butterfly species. Puddling behaviour of Lepidoptera suggests sodium needs of males are generally greater than females, thus, we predicted males would accumulate more sodium than females on a given diet.
Larvae were reared on plants (for Battus philenor, Chlosyne lacinia and Danaus plexippus) and an artificial diet (for Pieris rapae) under Low Na (no added sodium) and High Na (sodium added) conditions. Among species and sexes, we quantified and compared adult absolute tissue sodium concentrations and bioconcentration factors, which indicate net sodium accumulation or excretion relative to individuals' diets.
On average, individuals on low‐sodium diets had higher bioconcentration values across all species. Male butterflies accumulated significantly higher sodium concentrations than females in two sodium treatments for B. philenor, and P. rapae and only in the High Na treatment for C. lacinia. However, in D. plexippus, individuals accumulate sodium in the High Na treatment, but males and females responded in the same way.
Our study revealed sex‐ and species‐specific patterns of butterfly sodium accumulation, which could be linked to variations in behaviour and/or performance. Differences in sodium content across species have implications for variation in predation and trophic‐level interactions, an interesting avenue for future ecological and evolutionary research.
Comparative Genomics of Conifer‐Associated Fusarium spp.
Authors: Dobbs John T. , Kim Mee‐Sook , Klopfenstein Ned B. , Stewart Jane E. 
Published: October 2024

ABSTRACTRecent studies have shown numerous Fusarium spp. are associated with symptomatic conifer seedlings in both bareroot and container nursery systems. Some of these species have been found pathogenic to conifer seedlings (e.g., F. avenaceum, F. commune, F. oxysporum, F. solani, and F. verticillioides), but the mechanisms and shared evolutionary history of these conifer pathogenic species have not been well studied in these pathosystems. We compared whole genomes of 17 Fusarium spp. associated with conifer seedlings to elucidate putative shared pathogenicity/virulence gene profiles presumably expressed for roles in causing damping‐off and/or root disease of conifer seedlings. In addition, this work provides draft genomes of conifer‐associated Fusarium spp. and genomes not previously referenced in public databases (e.g., F. lactis, F. fredkrugeri, F. ipomoeae, and F. flocciferum). We identified pathogenicity/virulence genes associated with Fusarium spp. pathogens of conifers including effectors, the secreted in xylem (SIX) genes 2, 4, 9 and 14 and secondary metabolites, and the mycotoxins fumonisin and deoxynivalenol. We conclude that gene profiles are shared within Fusarium species complexes and among closely related Fusarium species complexes; however, these shared profiles are widely distributed across all Fusarium pathogens. These findings highlight potential targets for detecting and/or identifying Fusarium pathogens of conifers, but multiple methods and/or targets will be required depending on the species complexes and clades. More research is needed to determine the roles of expressed pathogenicity/virulence genes and the downstream metabolic products that result in pathogenesis to conifers.
Associations between mother and father involvement with older adolescents: Mediating effects of parent‐adolescent and couple relationships
Authors: Zhang Donghang , Sterrett‐Hong Emma M. , Ballard‐Kang Jennifer , Li Keyang 
Published: October 2024

AbstractObjectiveThis study aims to illuminate the dynamic interplay among subsystems within the family context to understand how mother and father involvement in their adolescent children's lives may be related.BackgroundConsistent with different predictions offered by family spillover and by compensatory conceptual models, whether there is an association between mother and father involvement, as well as the direction of the association, is unclear thus far in the empirical literature. Whether more proximal dyadic relationships, such as parent–adolescent relationships, may mediate the association between mother and father involvement has also been underexamined.MethodThis study was conducted using the adolescent subsample drawn from Wave 3 of the Welfare, Children, and Families Project. A total of 463 ethnically diverse adolescents from low‐income households living with two biological parents were involved in this study.ResultsResults of a structural equation modeling analysis indicated that the total effect from mother involvement to father involvement was significant, but a direct association between them was not significant; closeness in parent–adolescent and coparental relationships mediated the relationship between the two. Study results also indicated that model fits and associations were roughly the same across adolescent sex and ethnicity groups.ConclusionThis study advanced the understanding of the father involvement process. The findings support that parental involvement interventions for parents from low‐income families should focus on developing culturally responsive strategies for promoting their parenting beliefs and healthy functioning.
Nuclear DUX4 immunohistochemistry is a highly sensitive and specific marker for the presence of CIC::DUX4 fusion in CIC‐rearranged sarcomas: a study of 48 molecularly confirmed cases
Authors: Macedo Rodrigo T , Baranovska‐Andrigo Vira , Pancsa Tamás , Klubíčková Natálie , Rubin Brian P , Kilpatrick Scott E , Goldblum John R , Fritchie Karen J , Billings Steven D , Michal Michal , Švajdler Marián , Kinkor Zdeněk , Michal Michael , Dermawan Josephine K 
Published: October 2024

AimsCIC‐rearranged sarcomas (CRS) are clinically aggressive undifferentiated round cell sarcomas (URCS), commonly driven by CIC::DUX4. Due to the repetitive nature of DUX4 and the variability of the fusion breakpoints, CIC::DUX4 fusion may be missed by molecular testing. Immunohistochemical (IHC) stains have been studied as surrogates for the CIC::DUX4 fusion. We aim to assess the performance of DUX4 IHC in the work‐up of CRS and its expression in non‐CRS round cell or epithelioid neoplasms.Methods and resultsCases of molecularly confirmed CRS (n = 48) and non‐CRS (n = 105) were included. CRS cases consisted of 35 females and 13 males, with ages ranging from less than 1 year to 67 years (median = 41 years). Among the molecularly confirmed non‐CRS cases, C‐terminal DUX4 expression was investigated in Ewing sarcomas (38 cases), alveolar rhabdomyosarcomas (18 cases), desmoplastic small round cell tumours (12 cases) and synovial sarcomas (n = five), as well as in non‐mesenchymal neoplasms such as SMARCA4/SMARCB1‐deficient tumours (n = five), carcinomas of unknown primary (n = three) and haematolymphoid neoplasms (four cases). DUX4 IHC was considered positive when strong nuclear expression was detected in more than 50% of neoplastic cells. When used as a surrogate for the diagnosis of CRS, the sensitivity and specificity of DUX4 IHC was 98 and 100%, respectively. Only one CRS case was negative for DUX4 IHC and harboured a CIC::FOXO4 fusion.ConclusionsDUX4 IHC is a highly sensitive and specific surrogate marker for the presence of CIC::DUX4 fusion, demonstrating its utility in establishing a diagnosis of CRS.
Early life social conditions and adverse experiences are associated with childhood BMI and perceived overeating
Authors: Bartoskova Polcrova Anna , Ksinan Jiskrova Gabriela , Bobak Martin , Pikhart Hynek , Klánová Jana , Ksinan Albert J. 
Published: October 2024

SummaryBackgroundEarly life socioeconomic disadvantage and adverse experiences may lead to overeating, which is in turn associated with increased body mass index (BMI). However, recent evidence indicated that the association between childhood BMI and overeating might be bidirectional. This bidirectionality prompts the need for further investigation of early life predictors of BMI in childhood.ObjectivesTo longitudinally assess the directionality of the association between childhood BMI and perceived overeating and to investigate their antecedent early life predictors.MethodsThe sample included data from 5151 children from the ELSPAC study, collected between 18 months and 11 years of child age. The outcomes were child BMI and mother‐reported overeating, assessed at the age of 3, 5, 7 and 11 years. Predictors included maternal BMI, maternal education, single parenthood, financial difficulties and adverse childhood experiences (ACEs) reported by parents and paediatricians. The random intercept cross‐lagged panel model was applied.ResultsThe mean child's BMI at age 3 was 15.59 kg/m2 and increased to 17.86 kg/m2 at age 11. The percentage of parent‐reported overeating increased in the following period, from about 12% at age 3 to 17% at age 11. The results showed temporal stability in perceived overeating and BMI, with a bidirectional relationship strengthening over time. The child's BMI was associated with maternal BMI. Maternal BMI was positively associated with child‐perceived overeating, but a stronger effect was found for ACEs. ACEs mediated the impact of maternal education, financial difficulties and single parenthood on overeating.ConclusionsWe observed stable bidirectional associations between BMI and perceived overeating. The results indicated two main pathways: one linked to maternal BMI and early childhood BMI increase followed by perceived overeating and the second associated with ACEs mediating the effect of early childhood social factors on perceived overeating, leading to gradual BMI gain.
Examining the Receptivity to Tobacco Treatment Information for Individuals Living With Mental Illnesses: A Mixed Method Study
Authors: Abufarsakh Bassema , Seng Sarret , Cline Madelyn Strong , Scarduzio Jennifer , Okoli Chizimuzo T. C. 
Published: October 2024

ABSTRACTPeople living with mental illnesses (MI) have a specific need that requires tailored tobacco treatment (TT) information to be delivered in a desirable, appropriate, and acceptable manner to increase their receptivity. In this mixed‐method study, we aimed to develop tailored TT pamphlets for people with MI. In Phase I, we explored perspectives on tailored TT information from mental health providers (MHPs) and individuals with MI. In Phase II, we assessed the desirability, applicability, and acceptability of the developed tailored TT pamphlets. Semistructured interviews were used to obtain qualitative and quantitative data from 16 MHPs and 13 individuals with MIs recruited from an inpatient psychiatric facility. Thematic analysis and descriptive statistics were used to synthesize the data. The study guides the development of effective approaches, presentations, and content to enhance TT engagement for people with MI. The proposed tailored TT pamphlets proved desirable, applicable, and acceptable for individuals with MI. We recommend developing tailored TT information for people with MI in collaboration with MHPs and the target audience. Clear, concise communication is crucial, ensuring desirability, applicability, and acceptability. Further research should identify effective approaches and evaluate tailored TT materials to enhance program effectiveness.
Comparing the performance of multiple trigger tools in identifying medication‐related hospital readmissions
Authors: Lips Nikki , Singh Amit , Weir Daniala , Karapinar‐Carkit Fatma 
Published: October 2024

AbstractBackgroundMultiple trigger tools have been developed to identify medication‐related hospital (re)admissions (MRRs); however, the accuracy of these tools in real‐world clinical practice is uncertain. The objective of this study was to compare the accuracy of four different trigger tools (OPERAM, STOPP/START criteria, ADR‐tool, and QUADRAT) to identify MRRs compared with clinical adjudication.MethodsWe conducted a secondary analysis of patients readmitted within 30 days to seven departments of a teaching hospital. In the primary study, which involved a retrospective chart review of 1111 readmissions, MRRs and their potential preventability were clinically adjudicated by physicians and pharmacists. In the current study, four trigger tools were applied by a different physician and pharmacist panel. Patients of all ages were included. Trigger tools included both explicit items specifying the event and the associated medication and implicit items requiring clinical knowledge. The accuracy of each trigger tool was assessed by calculating the proportion of clinically adjudicated MRRs each tool identified overall as well as according to explicit and implicit triggers separately. The accuracy of each tool to identify potentially preventable MRRs was also calculated.ResultsOf 1111 readmissions, 181 were adjudicated as medication‐related (mean age 69 years, 56% male); 72 (40%) MRRs were potentially preventable. The original OPERAM tool identified 166 (92%) MRRs (62% through explicit triggers). The STOPP/START criteria identified 23 (13%, 7% through explicit triggers), the ADR tool identified 51 (28%, all explicit triggers), and the QUADRAT tool identified 76 (42%; all explicit triggers) MRRs. Of the 72 potentially preventable MRRs, OPERAM identified 59 (82%), STOPP/START identified 18 (25%), ADR identified 20 (28%), and QUADRAT identified 21 (29%).ConclusionThe original OPERAM tool identified the highest proportion of (preventable) MRRs. However, this tool includes many implicit triggers requiring expert clinical knowledge. Future studies should assess the practicality of implementing this tool in daily practice.
Predicting change in relationship distress and depressive symptoms among couples in Taiwan: The role of attachment, emotional expressivity, and gender roles in Emotionally Focused Therapy
Authors: Tseng Chi‐Fang , Morgan Preston C. , Wittenborn Andrea K. 
Published: October 2024

AbstractThis pilot study examined predictors of change in relationship distress and depressive symptoms over the course of Emotionally Focused Therapy (EFT) in a one‐arm, pragmatic clinical trial of 17 couples in Taiwan. Results revealed that masculine ideology, feminine ideology, traditionalism, and emotional expressivity at intake predicted change in relationship distress. Specifically, women's high traditional gender roles and traditionalism and both partners' high emotional expressivity at intake were associated with decreases in relationship distress over time. In addition, attachment and emotional expressivity predicted change in depressive symptoms. Specifically, high attachment avoidance, high attachment anxiety, and high emotional expressivity at intake were associated with decreases in depressive symptoms over time. While more research is needed, these findings offer preliminary support for the types of partners who may experience more improvement after receiving EFT in Taiwan.
The Exercise of Nurses' Clinical Leadership in Hospital Care Units: A Qualitative Multiple Case Study
Authors: Boutin Geneviève , Pepin Jacinthe , Brault Isabelle 
Published: October 2024

ABSTRACTAimsThis study aims to describe the exercise of clinical leadership by nurses within hospital care units, identify the factors influencing it and explore how nurses perceive its impact.DesignQualitative multiple case study.MethodThe study involved 36 interviews, 120 h of observation and documentary analyses with nurses across various roles within three nursing teams to capture collective leadership. Thematic and cross‐case analyses were also conducted.ResultsNurses' clinical leadership was manifested in five distinct forms, irrespective of their role: (1) initiating actions involving reflective thinking and intervention, (2) influencing others through coaching, (3) actively participating in and mobilising efforts to enhance the quality of care, (4) fostering optimal synergy and team cohesion, and (5) leveraging personal and collaborative capacities. Factors influencing this leadership included clinical, human and material resources, time, a work environment that promotes autonomy and a positive work climate. Nurses perceived their leadership as having a positive impact on patients, themselves, the interdisciplinary team and the organisation. These findings were integrated into a modellisation of the exercise of nurses' clinical leadership based on Le Moigne's (La Théorie du Système Général. Théorie de la Modélisation. Paris: Presses Universitaires de France, 2006) philosophical approach.ConclusionThis study provides a perspective on nurses' collective clinical leadership in hospital care units, emphasising its leverage effect and the achievement of positive impacts. The proposed model serves as a valuable tool for nurse managers to better understand and support the exercise of clinical leadership.Implications for the ProfessionThe model can guide nurse managers in supporting clinical leadership within teams, assist individual nurses in associating clinical leadership with their practice and assist with mobilising their leadership skills.Impact

This study explores how nurses across various roles within a hospital care unit exercise clinical leadership.

The findings reveal five active forms of nurses' clinical leadership, perceived by nurses to positively impact patients, the interdisciplinary team and the organisation.

Nurses and managers can use these five forms to foster a collective approach to clinical leadership.

Patient or Public ContributionNone.What Does This Paper Contribute to the Wider Community?

This study introduces an innovative model for understanding and promoting nurses' clinical leadership.

It provides insights into the positive impact of this leadership approach and the significance of promoting it.

Reporting MethodStandards for Reporting Qualitative Research [SRQR] (O'Brien et al. Academic Medicine, 89, 2014 and 1245).Trial and Protocol RegistrationNot registered
“Creatures of kek:” Affordance and enregisterment within “kek” on 4chan's “/pol/” board
Authors: Ludemann Dillon 
Published: October 2024

AbstractThis paper examines the relation of affordance and enregisterment in the socialization of users through the popular 4chan phrase “kek.” This word, overwhelmingly used as an equivalent for “lol” (netspeak for “laugh out loud”), has taken up several other meanings within “/pol/,” the politically incorrect subforum on 4chan, an anonymous imageboard forum. Drawing from both enregisterment and affordance theory, I claim that the processes of mobilizing kek in very community‐specific ways allow for users within this digital media space to not only enregister what a /pol/ user should “sound like,” but that it creates an environment which socializes a very specific kind of user itself. These branching paths of kek explored in this article situate kek as first, an affective assessment marker within interactive speech; then, as a lamination of the word, and deification of chaos magic and mischief celebrated on 4chan, represented by the frog‐headed Egyptian god Kek; and finally, as a sovereign nation, known as “Kekistan.” Through these examples, I argue that a “creature of kek” is a socially constructed, enregistered framework of “knowing,” by which users on /pol/ legitimize themselves to new users, and in broader digital spaces.
Tongue and Lip Strength and Endurance in Healthy Young Adults With and Without Orofacial Myofunctional Disorders
Authors: Van der Straeten Charis , Verbeke Jolien , Bettens Kim , De Pauw Guy , Van Lierde Kristiane 
Published: October 2024

ABSTRACTBackground/ObjectivesBased on the premise that tongue and lip force is affected in individuals with orofacial myofunctional disorders (OMDs), orofacial myofunctional therapy (OMT) programs typically include the strengthening of orofacial muscles through isometric and isotonic exercises. The purpose of this study is to examine whether there is indeed a measurable difference in maximum tongue and lip strength and endurance between subjects with and without OMDs, as well as to explore Oral Health‐Related Quality of Life (OHRQoL) in this population.MethodsSixty healthy young adults (mean age 18.9 years, SD 0.69 years, range 18.0–21.4 years) participated in this study. Perceptual evaluation of orofacial functions was conducted using the Orofacial Myofunctional Evaluation with Scores (OMES) protocol. Participants were divided into three groups, namely those with physiological orofacial functions (POF; n = 20), those with inconsistent orofacial functions (IOF; n = 11), and those with consistent OMDs (OMD; n = 29). Maximum isometric pressure and endurance of tongue and lips were measured using the Iowa Oral Performance Instrument (IOPI). OHRQoL was assessed using the Oral Health Impact Profile (OHIP‐14).ResultsThe OMES total scores did not differ significantly between the three groups, though the subscale ‘function’ showed significant differences (13.637; p = 0.001). No statistically significant differences in maximum isometric pressure or endurance for tongue and lips, nor for OHIP scores, were measured between the three groups.ConclusionsAlthough orofacial muscle strengthening is commonly part of OMT, current findings suggest the superfluity of these types of exercises in the treatment of OMDs in healthy young adults and may indicate the need to focus on awareness and rehabilitation of pathological functions in these individuals. Re‐evaluation of the efficacy of OMT programs in different populations may be an important strategy going forward.