bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA
Authors: Cortes-Ciriano Isidro , Steele Christopher D. , Piculell Katherine , Al-Ibraheemi Alyaa , Eulo Vanessa , Bui Marilyn M. , Chatzipli Aikaterini , Dickson Brendan C. , Borcherding Dana C. , Feber Andrew , Galor Alon , Hart Jesse , Jones Kevin B. , Jordan Justin T. , Kim Raymond H. , Lindsay Daniel , Miller Colin , Nishida Yoshihiro , Proszek Paula Z. , Serrano Jonathan , Sundby R. Taylor , Szymanski Jeffrey J. , Ullrich Nicole J. , Viskochil David , Wang Xia , Snuderl Matija , Park Peter J. , Flanagan Adrienne M. , Hirbe Angela C. , Pillay Nischalan , Miller David T. ,   for the Genomics of MPNST (GeM) Consortium
Published: January 2023

AbstractMalignant peripheral nerve sheath tumor (MPNST), an aggressive soft-tissue sarcoma, occurs in people with neurofibromatosis type 1 (NF1) and sporadically. Whole-genome and multiregional exome sequencing, transcriptomic, and methylation profiling of 95 tumor samples revealed the order of genomic events in tumor evolution. Following biallelic inactivation of NF1, loss of CDKN2A or TP53 with or without inactivation of polycomb repressive complex 2 (PRC2) leads to extensive somatic copy-number aberrations (SCNA). Distinct pathways of tumor evolution are associated with inactivation of PRC2 genes and H3K27 trimethylation (H3K27me3) status. Tumors with H3K27me3 loss evolve through extensive chromosomal losses followed by whole-genome doubling and chromosome 8 amplification, and show lower levels of immune cell infiltration. Retention of H3K27me3 leads to extensive genomic instability, but an immune cell-rich phenotype. Specific SCNAs detected in both tumor samples and cell-free DNA (cfDNA) act as a surrogate for H3K27me3 loss and immune infiltration, and predict prognosis.Significance:MPNST is the most common cause of death and morbidity for individuals with NF1, a relatively common tumor predisposition syndrome. Our results suggest that somatic copy-number and methylation profiling of tumor or cfDNA could serve as a biomarker for early diagnosis and to stratify patients into prognostic and treatment-related subgroups.This article is highlighted in the In This Issue feature, p. 517
Genetic Regulation of SMC Gene Expression and Splicing Predict Causal CAD Genes
Authors: Aherrahrou Rédouane , Lue Dillon , Perry R. Noah , Aberra Yonathan Tamrat , Khan Mohammad Daud , Soh Joon Yuhl , Örd Tiit , Singha Prosanta , Yang Qianyi , Gilani Huda , Benavente Ernest Diez , Wong Doris , Hinkle Jameson , Ma Lijiang , Sheynkman Gloria M. , den Ruijter Hester M. , Miller Clint L. , Björkegren Johan L.M. , Kaikkonen Minna U. , Civelek Mete 
Published: January 2023

Background:
Coronary artery disease (CAD) is the leading cause of death worldwide. Recent meta-analyses of genome-wide association studies have identified over 175 loci associated with CAD. The majority of these loci are in noncoding regions and are predicted to regulate gene expression. Given that vascular smooth muscle cells (SMCs) play critical roles in the development and progression of CAD, we aimed to identify the subset of the CAD loci associated with the regulation of transcription in distinct SMC phenotypes.

Methods:
We measured gene expression in SMCs isolated from the ascending aortas of 151 heart transplant donors of various genetic ancestries in quiescent or proliferative conditions and calculated the association of their expression and splicing with ~6.3 million imputed single-nucleotide polymorphism markers across the genome.

Results:

We identified 4910 expression and 4412 splicing quantitative trait loci (sQTLs) representing regions of the genome associated with transcript abundance and splicing. A total of 3660 expression quantitative trait loci (eQTLs) had not been observed in the publicly available Genotype-Tissue Expression dataset. Further, 29 and 880 eQTLs were SMC-specific and sex-biased, respectively. We made these results available for public query on a user-friendly website. To identify the effector transcript(s) regulated by CAD loci, we used 4 distinct colocalization approaches. We identified 84 eQTL and 164 sQTL that colocalized with CAD loci, highlighting the importance of genetic regulation of mRNA splicing as a molecular mechanism for CAD genetic risk. Notably, 20% and 35% of the eQTLs were unique to quiescent or proliferative SMCs, respectively. One CAD locus colocalized with a sex-specific eQTL (
TERF2IP
), and another locus colocalized with SMC-specific eQTL (
ALKBH8
). The most significantly associated CAD locus, 9p21, was an sQTL for the long noncoding RNA
CDKN2B-AS1
, also known as
ANRIL
, in proliferative SMCs.

Conclusions:
Collectively, our results provide evidence for the molecular mechanisms of genetic susceptibility to CAD in distinct SMC phenotypes.
The Unfolding Illiberalism in Hungary
Authors: Drinóczi Tímea 
Published: January 2023

Abstract
The emerging literature on illiberalisms offers a framework for detecting whether or not a special Hungarian illiberalism has been unfolding. Over the last 12 years, Hungary’s former liberal constitutionalist nature has been changed to illiberal constitutionalism. This transformation of the constitutional system recently culminated with the fourth consecutive electoral victory of Viktor Orbán in April 2022. Nevertheless, the possible ideological nature of Orbán’s regime has been understudied so far. Drawing on some newly published literature on illiberalisms, I claim that changes in electoral law (2014), the revised approach to the relationship between EU law and domestic law (2016 and 2021), and identity rights (2013, 2019–2020), along with the preceding political narratives, can be viewed as seeds from which a special, state-driven illiberalism has been growing in Hungary. If it is so, it could be concluded that Hungarian illiberalism is based on and the result of two factors: i) the translation of illiberal speech into the language of the law, and ii) the creation of intertwined identities for the constitution, the state, and citizens, which are based on (ethno)nationalism, sovereigntism, traditionalism and heteronormativity against mainly EU obligations and Western values.
Depicting What Cannot Be Heard? A Preliminary Study of Diagrams in Greek Harmonic Theory
Authors: Weddigen Anne 
Published: January 2023

Abstract
This paper considers the shape and function of musical diagrams transmitted in ancient musical treatises, focusing on two main types of musical diagrams. The first of them is the canon-diagram. It originates in arithmetical visualization habits, and shows great variety of degrees ranging from a realistic schema of a tool to an abstract mathematical proof. The second object under investigation is the Lambda-shaped diagram, only described in Greek commentaries to the Timaeus, but handed down to us in its graphical version through the Latin tradition well known to Renaissance scholars.
These two examples show the strong and interwoven link between theoretical thinking and diagrammatic visualization as a support for abstraction. As one of the quadrivial arts, music’s borrowing from mathematical tools is not surprising; but their application shaped music-theory as a whole and left a long-lasting mark on the perception of ancient Greek music.
To Exaggerate Data at All Costs: Data-Driven Fan Culture, Platforms, and the Remaking of the New Poor in China
Authors: Hou Jiaxi 
Published: January 2023

Abstract
Among Chinese fans of ‘traffic celebrities’ (liuliang mingxing 流量明星), generating excessive data either on digital platforms or various sales charts to inflate a specific entertainer’s popularity has become a normalized ritual to demonstrate their fan identity. The so-called fandom economy effectively mobilizes fans from diverse socio-economic backgrounds to consume and participate, thus generating tremendous revenue. Although some fans can easily satisfy their consumerist desire for being economically powerful and socially successful, many others – who are seduced by the communitas of fan activism and agency as consumers – cannot or are not yet fully able to afford this lifestyle. Based on data from an eighteen-month ethnography, this study unpacks how these fans are seduced and, to some extent, included but still exploited in the transitional Chinese consumer society as what Bauman calls the ‘new poor’, for whom digital platforms have become a new structuring nexus and transform the existing power dynamics.
Assessing the Impact of COVID-19 Restrictions on the Welfare and on the Behavior of Puppies and Dogs in Ireland
Authors: Walsh Elizabeth Ann 
Published: January 2023

Abstract
The popularity of puppies/dogs as companions/playmates/walking buddies was highlighted in Ireland with COVID-19 restrictions in March/2020, when the demand for puppies/dogs increased as people were confined to within 2/km of their homes. However, what was the rational supporting this trend, the influences/research undertaken by prospective owners? Two online-surveys were conducted, targeting veterinarians and behaviorists to establish motivation/attitude to owning dogs and behavioral issues being presented. Interviews by phone were conducted with the Dublin Society for the Prevention of Cruelty to Animals, Dog’s Trust and three Italian shelters for comparison purposes, to investigate the welfare of dogs during restrictions. An Garda Síochána (the National Police Service of Ireland) were contacted, to clarify the situation, in relation to dog theft and domestic abuse, which is strongly associated with animal abuse. Many factors may have influenced/impacted the epigenetic development of the behavior and resulting welfare of puppies/dogs, during this period.
The Deep Arctic Ocean and Fram Strait in CMIP6 Models
Authors: Heuzé Céline , Zanowski Hannah , Karam Salar , Muilwijk Morven 
Published: January 2023

Abstract
Arctic sea ice loss has become a symbol of ongoing climate change, yet climate models still struggle to reproduce it accurately, let alone predict it. A reason for this is the increasingly clear role of the ocean, especially that of the “Atlantic layer,” on sea ice processes. We here quantify biases in that Atlantic layer and the Arctic Ocean deeper layers in 14 representative models that participated in phase 6 of the Climate Model Intercomparison Project. Compared to observational climatologies and hydrographic profiles, the modeled Atlantic layer core is on average too cold by −0.4°C and too deep by 400 m in the Nansen Basin. The Atlantic layer is too thick, extending to the seafloor in some models. Deep and bottom waters are in contrast too warm by 1.1° and 1.2°C. Furthermore, the modeled properties hardly change throughout the Arctic. We attribute these biases to an inaccurate representation of shelf processes: only three models seem to produce dense water overflows, at too few locations, and these do not sink deep enough. No model compensates with open ocean deep convection. Therefore, the properties are set by the inaccurate volume fluxes through Fram Strait, biased low by up to 6 Sv (1 Sv ≡ 106 m3 s−1), but coupled to a too-warm Fram Strait, resulting in a somewhat accurate heat inflow. These fluxes are related to biases in the Nordic seas, themselves previously attributed to inaccurate sea ice extent and atmospheric modes of variability, thus highlighting the need for overall improvements in the different model components and their coupling.

Significance Statement
Coupled climate models are routinely used for climate change projection and adaptation, but they are only as good as the data used to create them. And in the deep Arctic, those data are scarce. We determine how biased 14 of the most recent models are regarding the deep Arctic Ocean and the Arctic’s only deep gateway, Fram Strait (between Greenland and Svalbard). These models are very biased: too cold where they should be warm, too warm where they should be cold, not stratified enough, not in contact with the surface as they should, moving the wrong way around the Arctic, etc. Some problems are induced by biases in regions outside of the Arctic and/or from the sea ice models.
When Is Masculinity “Fragile”? An Expectancy-Discrepancy-Threat Model of Masculine Identity
Authors: Stanaland Adam , Gaither Sarah , Gassman-Pines Anna 
Published: January 2023

Academic Abstract Manhood is a precarious social status. Under perceived gender identity threat, men are disproportionately likely to enact certain stereotype-consistent responses such as aggression to maintain their gender status. Yet less is known regarding individual variation in men’s threat responsiveness—that is, the psychological conditions under which one’s masculine identity is more or less “fragile.” We propose a novel model of masculine identity whereby masculine norm expectancy generates discrepancy within the self to the extent that rigid norms are internalized as obligational (actual-ought discrepancy) versus aspirational (actual-ideal discrepancy), which predict extrinsic versus intrinsic motivations to reduce these discrepancies, respectively. Under threat, then, extrinsic motivations predict externalized responses (e.g., aggression), and intrinsic motivations elicit internalized responses (e.g., anxiety, shame, self-harm). We also consider the conditions under which masculinity may be less fragile—for example, in contexts with less rigid expectations and among men who reject expectations—as pathways to mitigate adverse masculinity threat-related outcomes. Public Abstract In many cultures, men prove their manhood by engaging in behaviors that harm themselves and others (e.g., violence, sexism, homophobia), particularly people from marginalized groups. Yet less is known about why some men are more likely than others to enact these masculinity-proving behaviors. The goal of our model is to specify certain conditions under which masculinities become “fragile” and elicit these responses when under threat. We start by describing the rigid expectations men experience—for example, that they are strong and tough. We propose that these expectations cause men to experience different forms of discrepancy within themselves that produce corresponding motivations to reduce these discrepancies. Under threat, motivations driven by others’ expectations elicit outward attempts to restore masculine status (e.g., aggression), whereas motivations driven by self-ideals cause internalized responses (e.g., shame, self-harm). We conclude by discussing how to reduce these discrepancies, such as mitigating the rigidity of and encouraging men’s resistance to masculinity expectations.
Stress Induced Cortisol Release Depresses The Secretion of Testosterone in Patients With Type 2 Diabetes Mellitus
Authors: Khan Safir Ullah , Jannat Saba , Shaukat Hadia , Unab Shiza , Tanzeela  , Akram Maleeha , Khan Khattak Muhammad Nasir , Soto Monica Vizcara , Khan Muhammad Fiaz , Ali Amir , Rizvi Syed Shakeel Raza 
Published: January 2023

Background: Both hormonal and genetic data reveal that the stress hormone cortisol and its regulating genes may affect the level of testosterone in humans. It is uncertain whether type 2 diabetes mellitus would manifest similarly. Furthermore, a genetic strategy to screen out the stress system genes that may contribute to testosterone decline in humans is less understood. Objectives: In this study, we aimed to elucidate the link between stress and testosterone levels, both hormonally and genetically. Method: This study comprised 37 individuals with type 2 diabetes mellitus and 50 healthy individuals. For the analysis of hormones and the targeted genes, we used the RIA system and bioinformatics expertise. Results: The patients had significantly elevated cortisol and lower testosterone readings, according to data from hormonal analyses. The bioinformatics approach reveals that SHBG was intracellularly suppressed by 2 defined stress system genes: FKB5 and CYP17. TCF4/TCF8, ATRX, and AR in skeletal muscle were inversely related to stress system genes. Furthermore, all testosterone regulated genes were positively linked with SHBG in the current study. A strong relationship between GNAS and PKA with CYP17 and FKBP5 reveals that the Gαs-cAMP/PKA signaling pathway may be one of the regulatory pathways through which the suppression of testosterone system genes happens. In conclusion, this study demonstrated that beyond stress, the key stress system genes might affect cortisol levels, which in turn affect testosterone figures via the Gαs-cAMP/PKA signaling pathway.
Neurofilament light is associated with clinical outcome and hemorrhagic transformation in moderate to severe ischemic stroke
Authors: Rattanawong Wanakorn , Ongphichetmetha Tatchaporn , Hemachudha Thiravat , Thanapornsangsuth Poosanu 
Published: January 2023

Background Ischemic stroke is a leading cause of morbidity and mortality worldwide. One possible predictor is the use of biomarkers especially neurofilament light chain (NFL). Objectives To explore whether NFL could predict clinical outcome and hemorrhagic transformation in moderate to severe stroke. Design Single center prospective cohort study. Methods Fifty-one moderate to severe ischemic stroke patients were recruited. Blood NFL was obtained from patients at admission (First sample) and 24-96 hours later (Second sample). NFL was analyzed with the ultrasensitive single molecule array (Simoa). Later, we calculated incremental rate NFL (IRN) by changes in NFL per day from baseline. We evaluated National Institute of Health stroke scale (NIHSS), modified Rankins score (mRs), and the presence of hemorrhagic transformation (HT). Results IRN was found to be higher in patients with unfavorable outcome (7.12 vs 24.07, P = .04) as well as Second sample (49.06 vs 71.41, P = .011), while NFL First sample was not significant. IRN had a great correlation with mRS (r = .552, P < .001). Univariate logistic regression model showed OR of IRN and Second sample to be 1.081 (95% CI 1.016-1.149, P = .013) and 1.019 (1.002-1.037, P = .03), respectively. Multiple logistic regression model has shown to be significant. In receiver operating analysis, IRN, Second sample, combined IRN with NIHSS and combined Second sample with NIHSS showed AUC (.744, P = .004; 0.713, P = .01; 0.805, P < .001; 0.803, P < .001, respectively). For HT, First sample and Second sample had significant difference with HT (Z = 2.13, P = .033; Z = 2.487, P = .013, respectively). Conclusion NFL was found to correlate and predict clinical outcome. In addition, it was found to correlate with HT.
Retrospective multifactorial analysis of ocular firecracker injuries and review of literature
Authors: Kaur Kirandeep , Gurnani Bharat , Gupta Isha , Narayana Shivananda 
Published: January 2023

Purpose To analyse demographics, risk factors, clinical features, functional, anatomical outcomes, and prevalence of blindness in firecracker injury patients presenting to a tertiary eye care centre. Methodology A retrospective analysis of ocular firecracker injuries patients who presented to our hospital from April 2018 to March 2019 was performed. A total of 114 patients with a minimum follow-up of 3 months were included. The parameters recorded were demographics, mode of injury, type of cracker, baseline and last follow up best-corrected visual acuity (BCVA), anterior and posterior segment findings, seidel's test, intraocular pressure, gonioscopy, treatment, functional and anatomical outcomes. Investigations in form of B Scan, X-ray, or CT scan were undertaken whenever indicated. Results A total of 132 eyes of 114 patients were analysed. The mean (SD) age was 18.96 +/−15.4 years (range 3–71 years). Seventy-four (64.91%) patients were ≤ 18 years of age. The male-to-female ratio was 4:1. The ratio of right: left eye involvement was 1:1. Eighteen patients (15.79%) had bilateral involvement. A total of 125 eyes had closed globe injury, 7 eyes had open globe injury and 17 patients needed hospital admission for management. The mean (SD) baseline BCVA was 0.54(+/−0.75). The mean (SD) final BCVA improved to 0.23(+/−0.62) till the last follow-up. The final outcome was good in most patients, except 5 eyes (3.78%) which resulted in near/total blindness. Conclusion Firecracker injuries are a major cause of irreversible blindness, especially among the younger age group. Prompt diagnosis with meticulous management can prevent devastating sequelae.
Meeting the nutrition and physical activity needs of young people in residential out-of-home care
Authors: Green (nee Cox) Rachael , Savaglio Melissa , Bruce Lauren , Tate Ruby , Hatzikiriakidis Kostas , Smales Madelaine , Crawford-Parker Anna , Marshall Sandra , Graham Veronica , Skouteris Helen 
Published: January 2023

Summary Health outcomes for young people living in residential out-of-home care are poor. There has been increased emphasis on the need to prioritize preventative support and upskill residential care workers to better meet young people's health needs. The aim of this study was to examine the food quality and physical activity environment in residential care houses in Victoria, Australia prior to staff undertaking Healthy Eating, Active Living Matters (HEAL) training; 102 residential care houses participated. House representatives completed an online survey exploring: (1) physical activity equipment and engagement and (2) weekly food budget and expenditure. Findings The average weekly food expenditure per household was $318.98 (SD = $106.51), with variation between different sized households. The majority (61%) of houses’ weekly food expenditure was spent on ultra-processed food products that are ready to eat with no/little preparation, in comparison to 36% spent on unprocessed foods (fresh fruit and vegetables). The majority of houses reported having two types of equipment. Young people were not often engaged in physical and/or recreational activities in their community. Application Residential care houses in Victoria require additional supports to ensure that young people are supported to eat well and be active at home and in the community. HEALing Matters aims to provide this, by offering professional development for residential carers to better facilitate engagement in physical activity and healthy eating among the young people in their care. If successful, HEALing Matters may provide an effective pathway to improved health and wellbeing outcomes for young people in residential care.
Application of the 5F JL4 Catheter in Bronchial Artery Embolization With the Opening in the Inferior Wall of the Aortic Arch
Authors: An Jianli , Dong Yanchao , Niu Hongtao 
Published: January 2023

Background We investigated the efficacy and safety of bronchial artery embolization (BAE) using a 5F JL4 catheter in patients with hemoptysis and a bronchial artery opening in the inferior wall of the aortic arch. Methods This was a single-center retrospective study. Seventeen patients underwent BAE using 5F JL4. We then evaluated technical success (TS), clinical success (CS), incidence of complications, and hemoptysis recurrence rate (RR). Results The TS rate of microcatheter superselective catheterization and CS rate after surgery were 100%, and the incidence of severe complications and postoperative RR were 17.6%. Conclusions Bronchial artery embolization for hemoptysis with a BA opening in the inferior wall of the aortic arch using the 5F JL4 catheter could be a safe method. The short- and medium-term results were excellent.