bluuebunny/crossref_metadata_2025_split huggingface dataset:
Repeatome landscapes and cytogenetics of hortensias provide a framework to traceHydrangeaevolution and domestication
Authors: Taniguchi Shota , Ishiguro Sara , Schmidt Nicola , Jost Matthias , Wanke Stefan , Heitkam Tony , Ohmido Nobuko 
Published: June 2024

AbstractBackground and AimsOrnamental hortensias are bred from a reservoir of over 200 species in the genusHydrangeas.l. and are valued in gardens, households and landscapes across the globe. The phenotypic diversity of hortensia cultivars, hybrids and wild relatives is mirrored by their genomic variation, with differences in genome size, base chromosome numbers and ploidy level. We aim to understand the genomic and chromosomal basis of hortensia genome variation. Therefore, we analyze six hortensias with different origins and chromosomal setups for repeatome divergence, the genome fraction with the highest sequence turnover. This holds information from the hortensia’s evolutionary paths and can inform breeding initiatives.MethodsWe compiled a hortensia genotype panel representing members of the sectionsMacrophyllae,Hydrangea, Asperae, andHeteromallaeand reconstructed a plastome-based phylogenetic hypothesis as evolutionary basis for all our analyses. We comprehensively characterized the repeatomes by whole genome sequencing and comparative repeat clustering. Major tandem repeats were localized by multi-color FISH.Key ResultsTheHydrangeaspecies show differing repeat profiles reflecting their separation into the two majorHydrangeaclades: DiploidHydrangeaspecies from Japan show a conserved repeat profile, distinguishing them from Japanese polyploids as well as Chinese and American hortensias. These results are in line with plastome-based phylogenies. The presence of specific repeats indicates thatH. paniculatawas not polyploidized directly from the common ancestor of JapaneseHydrangeaspecies, but evolved from a distinct progenitor. Major satellite DNAs were detected over allH. macrophyllachromosomes.ConclusionsRepeat composition among theHydrangeaspecies varies in congruence with their origins and phylogeny. Identified species-specific satDNAs may be used as cytogenetic markers to identifyHydrangeaspecies and cultivars, and to infer parental species of oldHydrangeavarieties. This repeatome and cytogenetics information helps to expand the genetic toolbox for tracing hortensia evolution and informing future hortensia breeding.
Exploring the Trajectory of Catatonia in Neurodiverse and Neurotypical Pediatric Hospitalizations: A Multicenter Longitudinal Analysis
Authors: Luccarelli James , Clauss Jacqueline A. , York Tasia , Baldwin Isaac , Vandekar Simon , McGonigle Trey , Fricchione Gregory , Fuchs Catherine , Smith Joshua R. 
Published: June 2024

AbstractObjectiveCatatonia is a neuropsychiatric disorder that occurs in pediatric patients with a range of associated medical, psychiatric, and neurodevelopmental disorders (NDDs). This study describes hospital care of pediatric catatonia patients and compares treatments for neurotypical patients and those with NDDs.MethodsRetrospective cohort study from 1/1/2018 to 6/1/2023 of two academic medical centers of patients aged 18 and younger with catatonia. Patients were retrospectively assessed using the clinical global impressions-improvement (CGI-I) by two independent reviewers.ResultsOne hundred sixty-five patients were hospitalized for catatonia, of whom 50.3% had an NDD. Median age was 15. One hundred sixty-four patients were treated with a benzodiazepine, with a median maximum 24-hour dose of 6 mg lorazepam-equivalents, which did not differ for patients with and without NDDs. Electroconvulsive therapy (ECT) was utilized in 14.5% of patients. Median length of medical hospitalization was 5 days and hospitalizations were longer in neurotypical patients than in patients with NDDs. In an ordinal regression model, the probability of observing at least “much improvement” (CGI < 3) was 88.3% (95% CI: 82.4% to 92.3%), with NDD diagnosis associated with a lower odds of clinical response.ConclusionsThe probability of patients achieving a CGI-I score indicating at least “much improvement” was 88.3%. Administered benzodiazepine dose and ECT treatment were similar for all patients, but neurotypical patients had longer hospitalizations than those with NDDs and had a higher odds of a more favorable clinical response. Research under controlled conditions is needed to optimize and endure equitable catatonia treatment in youth.
Can Artificial Intelligence Improve the Appropriate Use and Decrease the Misuse of REBOA?
Authors: Bokenkamp Mary , Ma Yu , Dorken-Gallastegi Ander , Proaño-Zamudio Jefferson A. , Gebran Anthony , Velmahos George C. , Bertsimas Dimitris , Kaafarani Haytham M.A. ,   MPH
Published: June 2024

ABSTRACTBACKGROUNDThe use of resuscitative endovascular balloon occlusion of the aorta (REBOA) for control of noncompressible torso hemorrhage remains controversial. We aimed to utilize a novel and transparent/interpretable artificial intelligence (AI) method called Optimal Policy Trees (OPT), to improve the appropriate use and decrease the misuse of REBOA in hemodynamically unstable blunt trauma patients.METHODSWe trained then validated OPTs that “prescribe” REBOA in a 50:50 split on all hemorrhagic shock blunt trauma patients in the 2010-2019 ACS-TQIP database based on rates of survival. Hemorrhagic shock was defined as a systolic blood pressure ≤ 90 on arrival or transfusion requirement of ≥ 4 units of blood in the first 4 hours of presentation. The expected 24-hour mortality rate following OPT prescription was compared to the observed 24-hour mortality rate in patients who were or were not treated with REBOA.RESULTSOut of 4.5 million patients, 100,615 were included and 803 underwent REBOA. REBOA patients had a higher rate of pelvic fracture, femur fracture, hemothorax, pneumothorax, and thoracic aorta injury (p<0.001). The 24-hour mortality rate for the REBOA vs. non-REBOA group was 47% vs. 21%, respectively (p<0.001). OPTs resulted in an 18% reduction in 24-hour mortality for REBOA and 0.8% reduction in non-REBOA patients.CONCLUSIONInterpretable AI models can improve mortality in unstable blunt trauma patients by optimizing the use and decreasing the misuse of REBOA. These models to date have been used to predict outcomes, but their groundbreaking use will be prescribing interventions and changing outcomes.LEVEL OF EVIDENCELevel IV, Prognostic
Quantifying the risk of measles importation and spread in the United States in 2024
Authors: Bidari Subekshya , Yuan Haokun , Yang Wan 
Published: June 2024

AbstractMeasles outbreaks have increased globally following the COVID-19 pandemic. We combine multiple data sets on global measles incidence, air travels, and vaccinations to assess the risk of travel-related importation and subsequent dissemination of measles in the United States in 2024, and identify months and states with higher measles outbreak risks.
Alterations in Aortic Elasticity Indices among Type 2 Diabetes Patients in a Low and Middle Income Country Using M-Mode Echocardiography: A Cross-Sectional Comparative Study
Authors: Dang Hai Nguyen Ngoc , Luong Thang Viet , Nguyen Khoi Quan , Nguyen Uyen Ngoc Phuong , Pham Nguyen Nguyen Khoi , Tran Hieu Thi Nguyen , Tran Hung Khanh , Cao Mai Thi Thu , Ho Binh Anh , Doan Thang Chi , Nguyen Hung Minh , Anh Hoang Tien , Van Huynh Minh 
Published: June 2024

AbstractBackgroundDiabetes is one of the leading causes of noncommunicable diseases worldwide. It is known to induce cardiovascular remodeling, which can result in a variety of complications, including a considerable increase in aortic stiffness. While studies in Western populations have explored these effects, data on Asians, particularly Vietnamese, are limited. This study aimed to assess aortic elasticity in type 2 diabetes mellitus (T2DM) patients compared to healthy individuals.MethodsAortic elasticity indices were measured using M-mode echocardiography. A comparison between the healthy group and the T2DM group revealed substantial differences in aortic elasticity indices.ResultsThe aortic stiffness index (ASI) was significantly greater in the T2DM group than in the control group, with median values of 6.10 (3.64-12.47) and 3.79 (2.40-8.50), respectively (p = 0.003). Aortic strain (AS) was substantially lower in the T2DM group than in the control group, with median values of 8.21 (4.24 - 13.07) and 10.66 (6.01 - 18.23), respectively (p = 0.039). Furthermore, the median aortic compliance (AC) and aortic distensibility (AD) in individuals with T2DM were 4.07 (2.28-7.44) and 3.08 (1.57-5.26), respectively, lower than those in the control group, with median values of 6.40 (3.08-10.75) and 5.33 (2.80-9.79), respectively. A longer diabetes duration was linked to a greater ASI (r = 0.43, p < 0.05), while the AS decreased (r = -0.37, p < 0.05).ConclusionsSubstantial variations in aorta elasticity indices were found using M-mode echocardiography. More research is needed to investigate the consequences of these discrepancies and their significance for clinical purposes.Graphical Abstract
The N-terminal Region of α-Synuclein Controls Amyloid Nucleation at the Condensate Interface
Authors: Thrush Rebecca J. , Vadukul Devkee M. , Allerton Siân C. , Storch Marko , Aprile Francesco A. 
Published: June 2024

Abstractα-Synuclein can self-assemble into amyloid fibrils in neurodegenerative diseases, including Parkinson’s disease. Recent studies show α-synuclein can also undergo liquid-liquid phase separation, forming biomolecular condensates. The interconnection between α-synuclein amyloid formation and liquid-liquid phase separation is evident as these condensates can mature into solid gel-like condensates containing amyloid fibrils. Furthermore, N-terminally truncated α-synuclein fragments have been found in aggregates isolated from Parkinson’s disease affected brains and are known to affectin vitroaggregation.Here, we show that physiologically relevant N-terminal truncation of residues 1-4 significantly enhances α-synuclein self-assembly. Combining amyloid aggregation and liquid-liquid phase separation studies, we determined that this truncation increases the surface-dependent aggregation of α-synuclein, specifically at the fibril and lipid-vesicle surface, and the condensate interface. Our results enhance the understanding of α-synuclein pathology, offering new targets for therapeutic treatment. Furthermore, our quantitative approach can be extended to other systems to broaden the understanding of liquid-liquid phase separation in biology.
H2A.Z deposition at meiotic prophase I underlies homologous recombination and pachytene genome activation during male meiosis
Authors: Sun Shenfei , Jiang Yamei , Jiang Ning , Zhang Qiaoli , Pan Hongjie , Huang Fujing , Zhang Xinna , Guo Yuxuan , You Xiaoyu , Gong Kai , Wei Wei , Liu Hanmin , Song Zhenju , Song Yuanlin , Tang Xiaofang , Yu Miao , Li Runsheng , Lin Xinhua 
Published: June 2024

AbstractAccurate meiotic progression is important for gamete formation and the generation of genetic diversity. However, little is known about the identity of chromatin regulators that underlie mammalian meiosis in vivo. Here, we identify the multifaceted functions of the chromatin remodeler Znhit1 in governing meiosis. We observe a gradual increase inZnhit1expression during the meiotic prophase. Znhit1 deficiency in spermatocytes results in arrested pachytene development, impaired DNA double-strand break repair, and defective homologous recombination. Single-cell RNA sequencing and transcriptome analysis reveal that Znhit1 loss downregulates the transcription of pachytene genome activation (PGA) genes globally. Chromatin immunoprecipitation data show that Znhit1 is needed for the incorporation of the histone variant H2A.Z into pachytene chromatin. Moreover, we find that H2A.Z cooperates with the transcription factor A-MYB to co-bind DNA elements and control enhancer activity. Our findings provide insights into the regulatory mechanisms governing meiotic progression and highlight Znhit1 as a critical regulator of meiotic recombination and PGA.
A Supervised Machine Learning Approach with Feature Selection for Sex-Specific Biomarker Prediction
Authors: Meyer Luke , Mulder Danielle , Wallace Joshua 
Published: June 2024

AbstractBiomarkers play a crucial role in various aspects of healthcare, offering valuable insights into disease diagnosis, prognosis, and treatment selection. Recently, machine learning (ML) techniques have emerged as effective tools for uncovering novel biomarkers and improving predictive modelling capabilities. However, bias within ML algorithms, particularly regarding sex-based disparities, remains a concern. In this study, a supervised ML model was developed in order to predict 9 common biomarkers widely used in clinical settings. These biomarkers included triglycerides, body mass index, waist circumference, systolic blood pressure, blood glucose, uric acid, urinary albumin-to-creatinine ratio, high-density lipoproteins and albuminuria. During the validation test, it was observed that the ML models successfully predicted values within 5 and 10% error of the actual values. Out of the 121 female individuals tested, the following percentages of predicted values fell within this 10% range: 93% for albuminuria, 86% for waist circumference, 76% for BMI, and the lowest being 64% for systolic blood pressure and blood glucose. For the 119 male individuals tested, the percentages were as follows: 92% for albuminuria, 96% for waist circumference, 91% for BMI, 74% for blood glucose, and 68% for systolic blood pressure. Triglycerides, uric acid, urinary albumin-to-creatinine ratio and high-density lipoproteins all predicted lower than 50% for both male and female subgroups. Overall, the male subgroup had higher prediction scores than the female group.Graphical Abstract
Anticodon Engineered Transfer RNAs (ACE-tRNAs) are a Platform Technology for Suppressing Nonsense Mutations
Authors: Ko Wooree , Porter Joseph J. , Spelier Sacha , Couch Tyler , van der Windt Isabelle , Bhatt Priyanka , Coote Kevin , Mense Martin , Beekman Jeffrey M. , Lueck John D. 
Published: June 2024

SUMMARYNonsense mutations arise from single nucleotide substitutions that result in premature termination codons (PTCs). PTCs result in little to no full-length protein production and loss of mRNA expression through the nonsense-mediated mRNA decay (NMD) pathway. We demonstrate that anticodon engineered (ACE-) tRNAs efficiently suppress the most prevalent cystic fibrosis (CF) causing PTCs, promoting significant rescue of endogenous cystic fibrosis transmembrane conductance regulator (CFTR) transcript abundance and channel function in different model systems. We demonstrate that our best-performing ACE-tRNA, that decodes all UGA PTCs to a leucine amino acid, markedly rescues CFTR channel function from the most prevalent CF causing PTCs that arise from non-leucine encoding codons. Using this single ACE-tRNA variant, we demonstrate significant rescue of CFTR channel function in an immortalized airway cell line and two different primary CF patient-derived intestinal cell models with CFTR nonsense mutations. Thus, ACE-tRNAs have promise as a platform therapeutic for CF and other nonsense-associated diseases.
A mutation in vesicular acetylcholine transporter increases tubulin acetylation compromising axonal transport
Authors: Kuo Cheng-Shan , Wang Meng-Chieh , Bayansan Odvogmed , Barmaver Syed Nooruzuha , Bhan Prerana , Wagner Oliver Ingvar 
Published: June 2024

ABSTRACTKinesin-3 UNC-104(KIF1A) is the major transporter of synaptic vesicles and genetic defects in this motor are linked to Charcot-Marie-Tooth disease and hereditary spastic paraplegia. In a candidate screen for genes causing neurotransmission defects inC. elegansand simultaneously affecting post-translational modification of tubulin, we identified alleleunc-17(e245) significantly elevating tubulin acetylation in neurons. UNC-17 encodes for a VAChT (vesicle acetylcholine transporter) and its human ortholog is implicated in Alzheimer’s disease. Elevated tubulin acetylation compromises motility of UNC-104 as well its cargo RAB-3. Motility of UNC-104 improves when knocking down alpha-tubulin acetyltransferase MEC-17(ATAT1) inunc-17(e245) strains. Conversely, motility of UNC-104 is negatively affected when overexpressing MEC-17 in wild type animals. Critically, transport defects are comparable when exposing nematodes to drugs that inhibit ACh neurotrans-mission. Both UNC-104 and UNC-17 as well as UNC-104 and MEC-17 colocalize in neurons and bimolecular fluorescence complementation assays (BiFC) reveal physicalin situinteractions between UNC-104/UNC-17, UNC-104/MEC-17 and UNC-17/MEC-17. We propose a model in which reduced expression of UNC-17 frees MEC-17 from the UNC-104/UNC-17 complex. This leads to increased tubulin acetylation, which in turn negatively affects UNC-104 motility.Graphical abstract
mTORC2-mediated cell-cell interaction promote BMP4-induced WNT activation and mesoderm differentiation
Authors: Tong Li , Batool Faiza , Chiu Yueh-Ho , Zhou Yudong , Ma Xiaolun , Atanur Santosh , Cui Wei 
Published: June 2024

AbstractThe mechanistic target of rapamycin complex 2 (mTORC2) is essential for embryonic development but the underlying molecular mechanisms remain unclear. Here we show that disruption of mTORC2 in human embryonic stem cells (hESCs) considerably alters the balance of Rho/Rac signaling and reduces cell adhesion. Although these changes have no clear effect on hESC self-renewal and the expression of pluripotent markers, they significantly avert BMP-induced activation of canonical WNT genes, leading to impaired mesendoderm differentiation. Direct activation of downstream WNT pathway by inhibiting GSK3 dramatically improves mesendoderm differentiation in mTORC2-deficient hESCs. Our study uncovers a new mechanism by which mTORC2 regulates cell fate determination and, more importantly, link the intercellular contacts with the activation of the WNT genes.
The early bird catches the flywheel: pedagogical components of entrepreneurship education in American higher education institutions
Authors: Wang Chang , Shi Yongchuan , Jiang Shihao 
Published: June 2024

PurposeThis paper aims to explore the core elements and essential characteristics of entrepreneurship pedagogy in American higher education institutions, outlining a model from multiple participants’ perspectives and offering a blueprint for teaching entrepreneurship in higher education settings.Design/methodology/approachStructured interviews were conducted with 26 participants involved in entrepreneurship education in American higher education institutions, including teaching managers, teachers and students. The interview data were transformed into documentary materials and analyzed through grounded theory.FindingsThe characteristics of the core elements of entrepreneurship education pedagogy in American higher education institutions include unified and distinctive teaching content, diverse and practical teaching methods, disciplinary and interdisciplinary curriculum system, professional and inclusive teaching team, procedural and systematic teaching evaluation. More profoundly, entrepreneurship pedagogy in American universities can be conceptualized as a flywheel model, propelled by the significant autonomy of teachers. Teacher autonomy empowers dynamic interactions among teaching content, teaching method, curriculum development and teaching evaluation, facilitating ongoing innovation in American entrepreneurship pedagogy like a rapidly forward-rolling wheel.Originality/valueThis study contributes to a better understanding of the pedagogy of American entrepreneurship education as a mature discipline, which may assist educators in teaching entrepreneurship at the college level. Moreover, a flywheel model of entrepreneurship pedagogy is offered, emphasizing teacher autonomy as a vital but often overlooked role in the development of entrepreneurship education.
Unpacking patient engagement in remote consultation
Authors: Liu Zhening , Brandon-Jones Alistair , Vasilakis Christos 
Published: June 2024

PurposeThe purpose of this paper is to examine patient engagement in remote consultation services, an increasingly important issue facing Healthcare Operations Management (HOM) given the significant expansion in this and other forms of telehealth worldwide over the last decade. We use our analysis of the literature to develop a comprehensive framework that incorporates the patient journey, multidimensionality, antecedents and consequences, interventions and improvement options, as well as the cyclic nature of patient engagement. We also propose measures suitable for empirical assessment of different aspects of our framework.Design/methodology/approachWe undertook a comprehensive review of the extant literature using a systematic review approach. We identified and analysed 63 articles published in peer-reviewed scientific journals between 2003 and 2022.FindingsWe conceptualise patient engagement with remote consultation across three key aspects: dimensions, process, and the antecedents and consequences of engagement. We identify nine contextual categories that influence such engagement. We propose several possible metrics for measuring patient engagement during three stages (before service, at/during service and after service) of remote consultation, as well as interventions and possible options for improving patient engagement therein.Originality/valueThe primary contribution of our research is the development of a comprehensive framework for patient engagement in remote consultation that draws on insights from literature in several disciplines. In addition, we have linked the three dimensions of engagement with the clinical process to create a structure for future engagement assessment. Furthermore, we have identified impact factors and outcomes of engagement in remote consultation by understanding which can help to improve levels of adoption, application and satisfaction, and reduce healthcare inequality. Finally, we have adopted a “cyclic” perspective and identified potential interventions that can be combined to further improve patient engagement in remote consultation.
The effect of audience involvement on previsit behavioral intentions: the mediating role of place attachment
Authors: Shi Dongqi , Soonsan Nimit , Phakdee-Auksorn Panuwat 
Published: June 2024

Purpose
This study aims to explore the determinants of behavioral intentions during the previsit stage by investigating the influence of audience involvement with the audiovisual product and the mediating role played by place attachment.

Design/methodology/approach
Structural equation modeling was employed to verify the hypothesized relationships using the AMOS 24.0 program to assess the proposed model. A total of 564 young Chinese audiences who had watched the Thai television (TV) series “I Told Sunset About You” but had not previously visited Phuket, Thailand, were collected using the online survey as participants.

Findings
The findings indicate that audience involvement has a significant positive effect on place attachment and behavioral intentions during the previsit stage. Place attachment significantly influences behavioral intentions. Moreover, the result suggests that place attachment significantly mediates the relationship between audience involvement and behavioral intentions.

Research limitations/implications
This study contributes to film tourism research by revealing the crucial role of audience involvement in enhancing place attachment and fostering behavioral intentions toward depicted destinations among potential tourists.

Practical implications
This study suggests that destination marketers should be aware of the soft power of films and TV series to promote destination and attract prospective tourists.

Originality/value
This study provides a distinctive perspective on the interrelationships between audience involvement, place attachment, and previsit behavioral intentions. Additionally, it sheds light on the underlying mechanisms influencing potential tourists' behaviors in the context of film tourism.