bluuebunny/crossref_metadata_2025_split huggingface dataset:
Transcriptomic analysis of repeat expansion-ataxias uncovers distinct non-neuronal cell type-specific signatures of disease across the human brain
Authors: Chen Zhongbo , Hicks Amy , Brenton Jonathan , Grant-Peters Melissa , Reynolds Regina H. , Gustavsson Emil K. , Rocca Clarissa , Rocamora-Perez Guillermo , Garza Raquel , Garcia-Ruiz Sonia , Dominik Natalia , Anderson Claire , Curless Toby , Montgomery Kylie , Macpherson Hannah , Nethisinghe Suran , Gavriouchkina Daria , Blunskyte-Hendley Modesta , Fairbrother-Browne Aine , Lee Jasmaine , Luo Huihui , Efthymiou Stephanie , Murphy David , Hinton Fairlie , Botia Juan , Cortese Andrea , Wood Nicholas , Giunti Paola , Hardy John , Jakobsson Johan , Gandhi Sonia , Tucci Arianna , McLean Catriona , Jaunmuktane Zane , Houlden Henry , Ryten Mina 
Published: January 2025

AbstractHereditary ataxias are a heterogeneous group of neurogenetic conditions characterised by the clinical syndrome of progressive loss of coordination from neurodegeneration of the cerebellum. A commonality across the most prevalent ataxias is the underlying disease mechanism secondary to expansions of short tandem DNA repeats. There is currently an incomplete understanding of the pathogenic mechanisms of these repeat expansion disorders, a core feature of which revolves around RNA-dysregulation. In this study, we used both bulk and single nuclear RNA-sequencing to study post-mortem brain tissue of human donors with a range of repeat-expansion ataxias to reveal further mechanistic insights.We compared post-mortem paired cerebellar and frontal cortex tissue bulk RNA-sequencing data from 23 ataxia patients and 22 sex-, age-matched controls from two brain banks (spinocerebellar ataxia (SCA)1, SCA2, SCA6, SCA7, SCA17, Friedreich’s ataxia (FRDA), and 7 cases with unknown molecular diagnoses). We analysed bulk RNA-sequencing data for transcript usage, differential and cell-type-specific expression to transcriptomically profile these diseases. We also generated single nuclear RNA-sequencing data of the cerebellum from donors with SCA1, SCA2, SCA6 and FRDA to decipher changes in cell type proportions in the disease state.Using this approach, we found that: (i) despite the commonalities in the genetics of ataxia, there were components of their transcriptional signatures which were distinct; (ii) there were extensive transcriptional changes evident not only in the cerebellum but also the frontal cortex in ataxia cases; (iii) activation of immune and inflammatory pathways, as well as involvement of non-neuronal cell types was a feature of all ataxias to a lesser or greater extent.This study provides a novel resource to understand the mechanisms of disease in ataxia. Furthermore, taken together, these results highlight immune pathways and the role of non-neuronal cell types as early and potentially important therapeutic targets. These findings provide a map of transcriptomic changes in ataxia to further understanding of the underlying pathogenesis.
DANCE: An open-source analysis pipeline and low-cost hardware to quantify aggression and courtship inDrosophila
Authors: Yadav R. Sai Prathap , Dey Paulami , Ansari Faizah , Kottat Tanvi , Prabhu P. Pallavi , Vasam Manohar , Ayyangar Shrinivas , Bhaskar S. Swathi , Prabhu Krishnananda , Ghosh Monalisa , Agrawal Pavan 
Published: January 2025

AbstractQuantifying animal behaviors is pivotal for identifying the underlying neuronal and genetic mechanisms. Computational approaches have enabled automated analysis of complex behaviors such as aggression and courtship inDrosophila. However, existing approaches rely on rigid, rule-based algorithms and expensive hardware, limiting sensitivity to behavioral variations and accessibility. Here, we describe the DANCE (DrosophilaAggression and Courtship Evaluator), a low-cost, open-source platform combining machine learning-based classifiers and inexpensive hardware to quantify aggression and courtship. DANCE consists of six novel behavioral classifiers trained using a supervised machine learning algorithm. DANCE classifiers outperform existing rule-based algorithms by capturing dynamic behavioral variations. DANCE hardware is constructed using repurposed medicine blister packs and acrylic sheets, with recordings performed using smartphones, making it affordable and accessible. Benchmarking demonstrated that DANCE hardware performs comparably to sophisticated, high-cost setups. We validated DANCE in diverse contexts, including social isolation versus enrichment that modulate aggression and courtship, RNAi-mediated down-regulation of neuropeptide Dsk, and optogenetic silencing of dopaminergic neurons which promoted aggression. DANCE provides a cost-effective and portable solution for studyingDrosophilabehaviors in resource-limited settings or closer to natural habitats. Its accessibility and robust performance democratizes behavioral neuroscience, enabling rapid screening of genes and neuronal circuits underlying complex social behaviors.
Reframing government support for SMEs’ performance in international market: the critical role of institutional context
Authors: Jalali Hossein S. 
Published: January 2025

PurposeThis paper seeks to explore how contextual factors influence the effectiveness of government support initiatives in enhancing the international performance (IP) of small and medium-sized enterprises (SMEs). Addressing the fragmented nature of international business literature regarding institutional context, this study adopts an institution-based view (IBV) to examine how specific components of institutional context act as moderators in the relationship between government support and SME performance in international markets.Design/methodology/approachThe study is grounded in empirical research, utilizing data collected from 257 exporting SMEs in the Caucasus region through a random sampling method, achieving a response rate of 57.1%, comparable to similar studies in international business. Data analysis was conducted using Partial Least Squares Structural Equation Modeling (PLS-SEM) to assess both direct effects and moderating relationships.FindingsThe results confirm that government support, whether informational or experiential, significantly enhances SMEs’ performance in international markets. However, the relationship between government support and IP is moderated by the stability and specificity of the institutional environment. Institutional enforceability does not exhibit a significant moderating effect. Notably, institutional predictability moderates only the relationship between informational support and SMEs’ IP, highlighting the nuanced role of institutional context.Originality/valueThis research contributes to international business literature by applying an IBV, emphasizing the critical role of context in interactions among market stakeholders. It provides novel insights into how institutional context shapes the effectiveness of government support initiatives in fostering international success for SMEs, particularly in emerging economies. These findings advance the understanding of institutional context influences on SME internationalization and highlight the importance of tailoring government support in accordance with institutional context.
Prominent benefits and barriers to implementing electronic bidding for sustainable construction practices: evidence from key stakeholders in Vietnam
Authors: Van Tam Nguyen , Quoc Toan Nguyen , Hong An Pham 
Published: January 2025

PurposeElectronic bidding (e-bidding) offers a promising approach to promoting sustainable construction practices, yet research on its benefits and barriers remains underresearched. This study addresses this gap by investigating stakeholder perceptions to examine prominent benefits and barriers to implementing e-bidding for sustainable construction practices in Vietnam.Design/methodology/approachData from 104 construction professionals in Vietnam were analyzed through various statistical methods such as reliability testing, ANOVA analysis, Tukey’s post hoc analysis and ranking by mean scores.FindingsThe ANOVA and Tukey’s post hoc tests revealed significant differences in how owners, authorities, and contractors perceive the benefits and barriers of e-bidding. The findings highlighted several key benefits, including enhanced storage and retrieval of information, support for digital transformation in construction and facilitation of new contractor entrance. In addition, the analysis underscored critical barriers, such as security and data privacy concerns, incompatible tools and a lack of support and expertise on national bidding platforms.Originality/valueThis study contributes to the body of knowledge by examining key stakeholders’ perceived benefits and barriers associated with e-bidding implementation in the context of sustainable construction practices. Practically, this study proposed specific actionable recommendations for stakeholders in Vietnam, which can ultimately contribute to more sustainable construction practices and enhance the efficiency and effectiveness of e-bidding processes.
Exploring the nexus between social media marketing and patients’ participation in value co-creation: a pathway toward patient well-being
Authors: Hasan Md Moynul , Chang Yu , Hussain Khalid , Tingyu Lu 
Published: January 2025

PurposeDrawing on service-dominant logic and co-creation literature, this study explores how social media marketing activities (SMMAs) in online healthcare communities (OHCs) impact patients’ electronic word of mouth (E-WOM). Additionally, it aims to understand how patients’ E-WOM contributes to participation in value co-creation (PVCC) during the healthcare journey and influences patient well-being. This study also investigates the mediating role of patients’ E-WOM in bridging the relationship between the dimensions of SMMAs and patient PVCC dimensions.Design/methodology/approachData were collected from 601 healthcare customers through a structured survey. Hypotheses were tested using partial least structural equation modeling (PLS-SEM) with SmartPLS 4.0.FindingsResults demonstrate that interactivity and trendiness dimensions of SMMAs positively impact patients’ E-WOM communication. Patients’ E-WOM communication enhances their PVCC by influencing information seeking, information sharing, personal interaction and responsible behavior dimensions. Information seeking, personal interaction and responsible behavior in patient-provider interactions during the healthcare journey augment patients’ well-being, such as satisfying patients’ overall healthcare needs, ensuring mental peace and physical comfort and guaranteeing quality of life. Additionally, patients’ E-WOM mediates the relationship between SMMAs dimensions, such as interactivity and trendiness, with each dimension of patient PVCC.Originality/valueThis study extends the service-dominant logic and enriches the literature on healthcare service co-creation. It explores how SMMAs can enhance patient PVCC through E-WOM and improve patient well-being. Additionally, it provides valuable insights for social media marketing managers, healthcare professionals and marketing strategists.
Atypical mucocutaneous manifestations of MPOX: A systematic review
Authors: Grau‐Echevarría Andrés , Blaya‐Imbernón Daniel , Finello Malena , Zafrilla Elena Pérez , García Ángel González , Leal Rodrigo Peñuelas , Labrandero‐Hoyos Carolina , Magdaleno‐Tapial Jorge , Díez‐Recio Esther , Hernández‐Bel Pablo 
Published: January 2025

AbstractMPOX is an orthopoxvirus whose infection has been declared a Public Health Emergency of International Concern in 2022 and 2024. It proved to be a virus with markedly heterogeneous and varied clinical presentation. We performed a systematic PubMed review of articles reporting cases of different clinical manifestations of MPOX until October 2024. The infection has mainly affected men who have sex with men. After 4 to 10 days of incubation, it presents with mucocutaneus lesions and systemic symptoms. Some anatomical sites have shown clinical particularities. Genital edema is a potentially serious complication. The ocular and ear/nose/throat area are other infrequent sites with specific manifestations. MPOX whitlow affects the third finger of the dominant hand and may be associated with extensive inflammation and proximal lymphangitis. Bacterial superinfection is a common complication in the genital area with good response to antibiotic treatment. Immunosuppressed patients may develop severe inflammation and necrosis resulting in poor prognosis. Some authors propose ulceronecrotic MPOX as a defining condition of AIDS. The involvement of women has been exceptional in the current outbreak and has predominantly affected the vulva. Some patients such as healthcare workers, atopics, and people who get tattoos are at risk of developing specific lesions via nonsexual routes. Other atypical manifestations include maculopapular rash and inguinal patch. MPOX is a highly relevant and ongoing infection that can present with multiple atypical manifestations, and the knowledge of which is of great importance to the clinician. We present a unique systematic review of atypical presentations of this infection that may be associated with significant morbidity and mortality, especially in the immunocompromised population.
Effect of transcutaneous vagus nerve stimulation in hemodialysis patients: A randomized controlled trial
Authors: Zhang Qiuling , Dou Jun , Ao Hua , Guo Dongmei , Yang Xi , Li Ming 
Published: January 2025

AbstractIntroductionTranscutaneous auricular vagus nerve stimulation (tVNS) has shown potential in neurological, autoimmune, and cardiovascular disorders, but its effects on HD patients remain unclear. This study aimed to evaluate the efficacy and safety of tVNS in HD patients.MethodsWe conducted a randomized controlled clinical trial on patients receiving HD ≥6 months. The tVNS group received stimulation for 1 h during the first 2 h of HD sessions, three times weekly for 8 weeks, while the control group received standard care. The primary outcomes were dialysis efficiency (Single‐pool Kt/V, Sp Kt/V) and dialysis‐related symptoms (Dialysis Symptom Index, DSI), assessed every 4 weeks. Secondary outcomes included pain and fatigue scores, physical performance, Hemodialysis Comfort Scale, hemoglobin levels, Mini‐Mental State Examination, and anxiety and depression scores, measured at baseline and 8 weeks after intervention.ResultsA total of 63 patients were enrolled in the study, with 32 patients assigned to the tVNS group and 31 patients to the control group. At 8 weeks, the tVNS group showed significant improvements in Sp Kt/V (1.31 ± 0.11 vs. 1.25 ± 0.10, p = 0.02), and DSI (12.09 ± 5.84 vs. 16.26 ± 5.27, p = 0.004), as well as reductions in pain and fatigue, and increases in physical function, comfort, and hemoglobin. However, there were no statistically significant changes observed in cognitive function, anxiety, or depression.ConclusionstVNS could improve dialysis efficiency, symptoms, and physical function in HD patients, indicating it may have a role as a complementary therapy.
AI Methods for Antimicrobial Peptides: Progress and Challenges
Authors: Brizuela Carlos A. , Liu Gary , Stokes Jonathan M. , de la Fuente‐Nunez Cesar 
Published: January 2025

ABSTRACTAntimicrobial peptides (AMPs) are promising candidates to combat multidrug‐resistant pathogens. However, the high cost of extensive wet‐lab screening has made AI methods for identifying and designing AMPs increasingly important, with machine learning (ML) techniques playing a crucial role. AI approaches have recently revolutionised this field by accelerating the discovery of new peptides with anti‐infective activity, particularly in preclinical mouse models. Initially, classical ML approaches dominated the field, but recently there has been a shift towards deep learning (DL) models. Despite significant contributions, existing reviews have not thoroughly explored the potential of large language models (LLMs), graph neural networks (GNNs) and structure‐guided AMP discovery and design. This review aims to fill that gap by providing a comprehensive overview of the latest advancements, challenges and opportunities in using AI methods, with a particular emphasis on LLMs, GNNs and structure‐guided design. We discuss the limitations of current approaches and highlight the most relevant topics to address in the coming years for AMP discovery and design.
A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis
Authors: Kotecha Udhaya , Kim Euri S. , Shah Parth S. , Shah Nidhi , Gupta Vandana A. 
Published: January 2025

ABSTRACTArthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved splice donor site, resulting in the mis‐splicing of the affected exons. SENP7 is a deSUMOylase that is critical for sarcomere assembly and skeletal muscle contraction by regulating the transcriptional program in the skeletal muscle. This is a reported case of an affected family with a noncoding, splice site SENP7 variant, expanding the spectrum of SENP7 as a causative gene in rare cases of lethal AMC.
Source Causal Connectivity Noninvasively Predicting Surgical Outcomes of Drug‐Refractory Epilepsy
Authors: Lin Wentao , Yang Danni , Chen Chen , Zhou Yuanfeng , Chen Wei , Wang Yalin 
Published: January 2025

ABSTRACTAimsDrug‐refractory epilepsy (DRE) refers to the failure of controlling seizures with adequate trials of two tolerated and appropriately chosen anti‐seizure medications (ASMs). For patients with DRE, surgical intervention becomes the most effective and viable treatment, but its success rate is unsatisfactory at only approximately 50%. Predicting surgical outcomes in advance can provide additional guidance to clinicians. Despite the high accuracy of invasive methods, they inevitably carry the risk of post‐operative infection and complications. Herein, to noninvasively predict surgical outcomes of DRE, we propose the “source causal connectivity” framework.MethodsIn this framework, sLORETA, an EEG source imaging technique, was first used to inversely reconstruct intracranial neuronal electrical activity. Then, full convergent cross mapping (FCCM), a robust causal measure was introduced to calculate the causal connectivity between remodeled neuronal signals within epileptogenic zones (EZs). After that, statistical tests were performed to find out if there was a significant difference between the successful and failed surgical groups. Finally, a model for surgical outcome prediction was developed by combining causal network features with machine learning.ResultsA total of 39 seizures with 205 ictal EEG segments were included in this prospective study. Experimental results exhibit that source causal connectivity in α‐frequency band (8~13 Hz) gains the most significant differences between the surgical success and failure groups, with a p‐value of 5.00e‐05 and Cohen's d effect size of 0.68. All machine learning models can achieve an average accuracy of higher than 85%. Among them, the SVM classifier with Gaussian kernel function and Bayesian optimization demonstrates the highest accuracy of 90.73%, with a PPV of 87.91%, an NPV of 92.98%, a sensitivity of 90.91%, a specificity of 90.60%, and an F1‐score of 89.39%.ConclusionOur results demonstrate that the source causal network of EZ is a reliable biomarker for predicting DRE surgical outcomes. The findings promote noninvasive precision medicine for DRE.
Vimentin Inhibits Neuronal Apoptosis After Spinal Cord Injury by Enhancing Autophagy
Authors: Zhao Jie , Chen Kangzhen , Wang Tao , Qiu Xianxiu , Zhang Xiaomin , He Tao , Chen Liji , Chen Jiahong , Cui Xiaojun , Wu Hongfu 
Published: January 2025

ABSTRACTAimsNeuron death is caused primarily by apoptosis after spinal cord injury (SCI). Autophagy, as a cellular response, can maintain cellular homeostasis to reduce apoptosis. We aimed to investigate the effect and the mechanism of vimentin knockdown on autophagy and neural recovery after SCI.MethodsThe SD rats with T10 complete transection as SCI model were used. The vimentin RNAi adenovirus was constructed and transplanted into T10 rats with total transection injury of the spinal cord, and the recovery of neurological and motor functions after SCI was evaluated by BBB score, footprint analysis, electrophysiological tests, and immunofluorescence staining. Protein and gene expression were assessed by Western blotting, CO‐IP, q‐PCR, and immunofluorescence. In addition, neuron‐like PC12 cells were infected with adenovirus to further elucidate the effect of vimentin on autophagy and the molecular mechanism of neuronal apoptosis after SCI.ResultsInhibition of SCI induced‐vimentin upregulation improved motor function, enhanced the recovery of autophagy flux, and reduced neuronal apoptosis. Notably, this may be related to the formation of vimentin‐14‐3‐3‐Beclin1 complex and PI3K class III complex.ConclusionOur results suggest that inhibition of vimentin expression may enhance autophagy and anti‐apoptosis in neurons after SCI by affecting the formation of the vimentin‐14‐3‐3‐Beclin1 complex, thereby promoting neuronal recovery.
Neutrophilic Panniculitis Secondary to BRAF and MEK Inhibitor Therapy to Treat Stage IIIa Cutaneous Melanoma
Authors: Reed Tyra , Rivera Steven , Fisher Craig , Schaffenburg William 
Published: January 2025

ABSTRACTPanniculitides are a group of inflammatory disorders of the subcutaneous fat that have been reported as a rare complication of both a serine threonine kinase BRAF inhibitor monotherapy and BRAF inhibition in combination with a mitogen activated protein kinase (MEK) inhibitor combination therapy used to treat metastatic melanoma. The cutaneous manifestations of BRAF and BRAF/MEK therapies have been well documented, but neutrophilic panniculitis remains a less common complication with fewer case reports. Physician awareness of this complication when following patients on similar targeted therapies can decrease delays in appropriate management. We report a case of one patient who developed neutrophilic panniculitis during treatment with the BRAF/MEK combination of dabrafenib and trametinib. We followed the patient from initial presentation in the emergency department to diagnosis to include pathology findings of the disease. In this case of neutrophilic panniculitis, the patient presented with a history of stage IIIa (pT2a N1a M0) cutaneous melanoma of the right flank and developed classic painful nodules on the lower legs and arms with associated fever within the first 2 weeks after initiating adjuvant melanoma targeted therapy. The biopsies showed a mixed, neutrophilic panniculitis, without overlying epidermal changes. Given the patient's clinical history, the biopsy was consistent with a BRAF inhibitor induced neutrophilic panniculitis. The panniculitis resolved with symptomatic care and the patient was maintained on the antitumor therapies.