bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biglycan-driven risk stratification in ZFTA-RELA fusion supratentorial ependymomas through transcriptome profiling
Authors: Okonechnikov Konstantin , Ghasemi David R. , Schrimpf Daniel , Tonn Svenja , Mynarek Martin , Koster Jan , Milde Till , Zheng Tuyu , Sievers Philipp , Sahm Felix , Jones David T.W. , von Deimling Andreas , Pfister Stefan M. , Kool Marcel , Pajtler Kristian W. , Korshunov Andrey 
Published: January 2025

AbstractRecent genomic studies have allowed the subdivision of intracranial ependymomas into molecularly distinct groups with highly specific clinical features and outcomes. The majority of supratentorial ependymomas (ST-EPN) harbor ZFTA-RELA fusions which were designated, in general, as an intermediate risk tumor variant. However, molecular prognosticators within ST-EPN ZFTA-RELA have not been determined yet. Here, we performed methylation-based DNA profiling and transcriptome RNA sequencing analysis of 80 ST-EPN ZFTA-RELA investigating the clinical significance of various molecular patterns. The principal types of ZFTA-RELA fusions, based on breakpoint location, demonstrated no significant correlations with clinical outcomes. Multigene analysis disclosed 1892 survival-associated genes, and a metagene set of 100 genes subdivided ST-EPN ZFTA-RELA into favorable and unfavorable transcriptome subtypes composed of different cell subpopulations as detected by deconvolution analysis. BGN (biglycan) was identified as the top-ranked survival-associated gene and high BGN expression levels were associated with poor survival (Hazard Ratio 17.85 for PFS and 45.48 for OS; log-rank; p-value < 0.01). Furthermore, BGN immunopositivity was identified as a strong prognostic indicator of poor survival in ST-EPN, and this finding was confirmed in an independent validation set of 56 samples. Our results indicate that integrating BGN expression (at mRNA and/or protein level) into risk stratification models may improve ST-EPN ZFTA-RELA outcome prediction. Therefore, gene and/or protein expression analyses for this molecular marker could be adopted for ST-EPN ZFTA-RELA prognostication and may help assign patients to optimal therapies in prospective clinical trials.
A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development
Authors: Wang Chunlin , Chen Hong , Chen Qingqing , Qu Yangbin , Yuan Ke , Liang Li , Yan Qingfeng 
Published: January 2025

Abstract
Background
Karyotype 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions due to irregular gonadal development or androgen synthesis or function issues. Genes significantly influence DSD; however, the underlying mechanisms remain unclear. This study identified a Chinese family with 46, XY female DSD due to the CUL4B gene.

Methods
The proband medical history and pedigree were investigated. Whole-exome sequencing was performed to analyze different variations. Transiently transfected testicular teratoma (NT2/D1), KGN ovarian cells with either mutant or wild-type CUL4B gene, and knock-in Cul4b mouse models were confirmed. The expression levels of sex-related genes were analyzed.

Results
A 9.5-year-old girl was diagnosed with 46, XY DSD. A hemizygous variant c.838 T > A of the CUL4B gene was detected. The mRNA and protein levels of WNT4 and FOXL2 genes were higher than those in the wild-type group; however, CTNNB1, SOX9, and DMRT1 were lower in the wild-type group in NT2/D1 cells. In KGN ovarian cells of the mutant group, the mRNA and protein levels for WNT4 and CTNNB1 were elevated. Damaged testicular vasculature and underdeveloped seminal vesicles were observed in Cul4bL337M mice.

Conclusions
A missense CUL4B variant c.838 T > A associated with 46, XY female DSD was identified, and may activate the Wnt4/β-catenin pathway. Our findings provide novel insights into the molecular mechanisms of 46, XY female DSD.
Development and Validation of Emoji Response Scales for Assessing Patient-Reported Outcomes
Authors: Thompson Carrie A. , Novotny Paul J. , Yost Kathleen , Bartz Alicia C. , Rogak Lauren , Dueck Amylou C. 
Published: January 2025

PURPOSE
Emoji are digital images or icons used to express an idea or emotion in electronic communication. The purpose of this study was to develop and evaluate the psychometric properties of two patient-reported scales that incorporate emoji.

METHODS
The Emoji Response Scale developed for this study has two parts: the Emoji-Ordinal and Emoji-Mood scales. A pilot study was designed to validate the ordinal nature of the Emoji-Ordinal Scale. Twenty patients were shown all possible pairs of five emoji and asked to select the most positive from each pair. The psychometric ordering was assessed using Coombs unfolding and Thurstone scaling. A separate pilot study was designed to determine which emoji to include in the Emoji-Mood Scale. Ten common feelings experienced by patients with cancer were chosen by the study team. Patients and providers were asked to select the one emoji that best represented each feeling from the selection. The most commonly selected emotions and representative emoji were chosen for the Emoji-Mood Scale. In a randomized study of 294 patients, Spearman correlations, Wilcoxon tests, and Bland-Altman analyses determined the construct validity of the scales compared with Linear Analog Scale Assessments (LASA) and Patient-Reported Outcomes Measurement Information System (PROMIS) scores.

RESULTS

Ninety-five percent of patients selected the same ordering among the ordinal emoji, and Thurstone scaling confirmed the ordinal nature of the response scale. The construct validity of the scales was high with correlations between the Emoji-Ordinal Scale and the LASA scale of 0.70 for emotional well-being, 0.72 for physical well-being, 0.74 for overall quality of life, and –0.81 for fatigue. Emoji-Mood Scale ratings were strongly related to PROMIS global mental, global physical, fatigue, anxiety, sleep disturbance, and social activity scales (
P
< .0001).

CONCLUSION
This study provides evidence that scales incorporating emoji are valid for collecting patient-reported outcomes.
Molecular Profiling of Biliary Tract Cancers in African American and Caucasian Patients
Authors: Hu Zishuo Ian , Pavlick Dean C. , Ross Jeffrey S. , Lee Sunyoung S. , Eluri Madhulika , Javle Milind 
Published: January 2025

PURPOSE

Biliary tract cancers (BTCs) include intrahepatic cholangiocarcinoma (ICC), extrahepatic cholangiocarcinoma (ECC), and gallbladder cancers. BTCs have a number of genomic alterations, including isocitrate dehydrogenase 1 (
IDH1
) mutations, fibroblast growth factor receptor 2 (
FGFR2
) rearrangements, and
ERBB2
amplifications. Therapies targeting these alterations have shown clinical benefit in patients with BTCs in the United States. However, molecular differences between races in BTCs are largely unknown. In particular, the genomic profiles of African American (AA) patients with BTCs have been infrequently reported. We sought to identify key genomic differences between AA and Caucasian patients with BTCs in the United States in the Foundation Medicine and American Association for Cancer Research (AACR) GENIE databases.

METHODS
BTC patients from AA and Caucasian patients from the Foundation Medicine and AACR GENIE databases were retrospectively reviewed. BTCs were divided into ICC, ECC, and GBCs in the Foundation Medicine database. BTCs were divided into cholangiocarcinomas and GBCs in the AACR GENIE database.

RESULTS

The mean age of AA patients with BTCs was lower compared with Caucasians.
TP53
and
FGFR2
alterations were significantly more frequent in AA patients compared with Caucasian patients with BTCs.
IDH1
mutations in Caucasian patients with BTCs were double that of AA patients.

CONCLUSION
The results of this study suggest that significant genomic differences exist between races and warrant further investigation.
LGP-DS: A novel algorithm for identifying influential nodes in complex networks based on multi-dimensional evidence fusion
Authors: Xu Gui-Qiong , Miao Jia-Le , Dong Chen 
Published: January 2025

Abstract
Identifying influential nodes in complex networks is crucial in various application scenarios, such as blocking the spread of rumors, containing disease transmission and facilitating precise targeting of product advertisements. Existing researches have presented various centrality measures to identify influential nodes in the network, but most measures evaluate the importance of nodes from limited dimensions. To fill this gap, we propose a novel algorithm called Local-Global-Position based on the Dempster-Shafer evidence theory (LGP-DS) to solve the problem of identifying influential nodes. The proposed LGP-DS algorithm first calculates the information about propagation capability of nodes based on the global, local and position attributes, and thus obtains multiple evidence dimensions. Next, information entropy is employed to assess the contribution of different evidence dimensions, and the information is aggregated using Dempster-Shafer evidence theory, which facilitates the evaluation of nodal importance within a network. The effectiveness of the LGP-DS algorithm is validated by several simulated experiments on real-world networks. The results demonstrate that the proposed algorithm outperforms eight widely used algorithms in terms of discrimination power, top-10 nodes, and ranking accuracy.
Approach to the Patient Using Diabetes Technology in Pregnancy
Authors: Dickens Laura T , Gonzalez Maritza G 
Published: January 2025

Abstract
Diabetes in pregnancy increases risk for complications for the pregnant patient and neonate. Tight glycemic control to maintain glucose levels as close to nondiabetic ranges as possible can lower risk for these complications. Achieving strict glycemic targets can be challenging, and technologies including continuous glucose monitors (CGMs) and hybrid closed-loop (HCL) insulin pumps have the potential to improve diabetes control and pregnancy outcomes. The aim of this review is to present and appraise the current data about use of these technologies in pregnancy. In pregnancies with type 1 diabetes (T1D), CGM can improve glycemic control and reduce risk for neonatal complications. International consensus guidelines recommend more than 70% time in pregnancy target range (TIR) of 63 to 140 mg/dL (3.5-7.8 mmol/L), and there are data to suggest higher TIR in pregnancies with T1D can reduce risk for neonatal complications including fetal overgrowth and pregnancy complications like preeclampsia. Recent randomized controlled trials have demonstrated improved glycemic outcomes with use of HCL insulin pumps in pregnancy with T1D, though the results vary depending on the system used and available glycemic targets. In pregnancies with type 2 diabetes (T2D) and gestational diabetes mellitus (GDM), retrospective data suggest CGM can improve glycemia but there are limited data about outcomes or optimal CGM targets. Studies have reported glycemic measures for pregnancies without diabetes, which may serve as a guide for further outcomes studies of T2D and GDM. Access to diabetes technology and the necessary health care systems to support use of these devices may be barriers that contribute to health care disparities.
Testosterone Replacement Therapy and Risk of COVID-19 and Effect of COVID-19 on Testosterone's Treatment Effect
Authors: Pencina Karol M , Lincoff A Michael , Klein Eric A , Nissen Steven E , Shang Yili Valentine , Khan Nader , Li Xue , Chan Anna , Miller Michael G , Bhasin Shalender 
Published: January 2025

Abstract

Context
Whether circulating testosterone, dihydrotestosterone, and estradiol levels or testosterone replacement therapy (TRT) affects the risk of COVID-19 and whether COVID-19 affects response to TRT remains unknown.

Objective
The study evaluated whether baseline testosterone, dihydrotestosterone, and estradiol levels or TRT are associated with risk of developing COVID-19 and whether COVID-19 affects treatment response to TRT.

Methods
Among 5204 men, aged 45 to 80 years, with hypogonadism in the TRAVERSE trial, 379 developed COVID-19. We compared baseline and on-treatment hormone levels, and safety and efficacy in participants with and without COVID-19 diagnosis.

Results
Neither baseline nor on-treatment testosterone, estradiol, and dihydrotestosterone levels prior to COVID-19 differed significantly between men with and without COVID-19 diagnosis. Incidence of COVID-19 was similar in participants randomized to TRT or placebo groups (3-year Kaplan-Meier incidence 8.0% in TRT and 8.6% in placebo group, P = .823). Incidences of COVID-19-related hospitalizations (38.5% vs 32.8%, P = .222) and deaths (12.8% vs 8.9%, P = .247) were similar in the TRT and placebo groups. Changes in hypogonadal symptoms, libido, energy, and hemoglobin/hematocrit in response to TRT were attenuated in testosterone-treated men who developed COVID-19. Incidences of major adverse cardiovascular events, venous thromboembolism, and acute kidney injury were similar in those with COVID-19 diagnosis and those without.

Conclusion
In men with hypogonadism and cardiovascular disease (CVD) or increased risk of CVD, baseline and pre-COVID-19 on-treatment testosterone, dihydrotestosterone, and estradiol levels were similar in those who developed COVID-19 and those who did not. TRT did not affect the risk of COVID-19. COVID-19 attenuated the treatment response to TRT.
Acute and Lifelong Endurance Exercise Yields Differential Effects During Circadian Disruption in Mice
Authors: Nelson Cole F. , Wyatt Cole R. , Johnson Evan C. , Todd William D. , Schmitt Emily E. 
Published: January 2025

ABSTRACT

Introduction: Circadian rhythms are responsible for physiological and behavioral processes coordinated in a 24-hour cycle. We investigated whether untimed, long-term voluntary wheel access mitigated circadian disruption and facilitated re-entrainment. Methods: Thirty-four C57Bl/6 J mice (n = 21 males, n = 14 females) were used in this experiment. Long-term exercised (LTEx) mice ran from 3 wks to 12 mo of age. At 12 mo animals were circadian disrupted for 14 d and then re-entrained for 7 d. Long-term sedentary (LTSed) animals were disrupted but had no access to a wheel. Another long-term sedentary group had access to a wheel only during disruption (LTSed+Ex). SubCue dataloggers were used to track internal rhythm of core body temperature (Tb). RNA was extracted from skeletal muscle and RT-qPCR was used to analyze gene expression. Results: Overall, all three experimental groups had an initial entrained period lengths of ~24 h at baseline. There was a main effect of time (p = 0.012), treatment (p = 0.005) and interaction of time x treatment (p = 0.033) from baseline to disruption. A post-hoc analysis within group one-way ANOVAs showed no difference between baseline and disruption period lengths in the LTSed+Ex treatment, yet a difference from baseline to disruption in LTSed and LTEx. Lastly, there is a difference in entrained period lengths between all three treatment groups at the re-entrainment time point (p = 0.026) with a difference in change between disruption and re-entrainment with LTEx being lower than LTSed+Ex. Conclusions: Our results suggest that acute-like exercise during circadian disruption aided in mitigating circadian disruption. When all treatment groups were re-entrained back to a normal rhythm, the LTEx animals that had access to a wheel prior to, during, and after disruption had period lengths closest to baseline values.
Exercícios de afeto em redes plurais epistêmicas
Authors: Monteiro Fróes Maira , Marques S. Ferreira Vinícius , Cesar de Oliveira Renata , Reis Joanne , Simões Peres Marta , Tamiasso Martinhon Priscila 
Published: January 2025

Este artigo compartilha experiências extensionistas que buscam promover a formação e o funcionamento criativo de redes inter/trans epistêmicas (ou inter/transdisciplinares). As ações que compuseram estas experiências se deram em torno do filme O Poço, e de três mesas de apresentação e debate realizadas no contexto do Festival do Conhecimento da Universidade Federal do Rio de Janeiro. Uma análise de palavras foi realizada com o material textual escrito e transcrito, gerado durante estas ações. Cada palavra foi classificada em uma de três categorias, denominadas termos de carga subjetiva afetiva, termos de carga conceitual e termos de contextualização e propriedades, portanto, considerados valores de primeiro plano sugeridos pela experiência cognitivo afetiva dos sujeitos envolvidos, depreensíveis pela narrativa. De teor empírico, nossa avaliação de indicadores de discurso sugere que nossos co-partícipes vivenciaram estados de enredamento subjetivo, envolvendo qualificadores afetivos, éticos, estéticos, plurais, multimodais enfim. Nossa análise sugere que nossos trânsitos afetivos convivem com nossos sistemas de conhecimento. Tais estados, ao contrário da blindagem do pensamento objetivo aos nossos sujeitos na prática de análise técnica, científica, apontam para a coexistência, nestes indivíduos, de sujeitos e objetos, de tecituras narrativas que a despeito de racionais em nossa experiência intensa de trocas, tanto internas ao grupo, quanto na perspectiva do público em geral, são também encharcadas de emoções. Portanto, há convivência de razão e emoção como elementos de construção de conhecimento.
Entre O Sol E O Dragão: Oportunidades E Desafios Da Asean No Século XXI | Between The Sun And The Dragon: Opportunities And Challenges For Asean In The 21st Century
Authors: Carvalho Neves Bárbara , Borges Ramos Dias Maurício Luiz , Simán Tainá 
Published: January 2025

RESUMO
Os mecanismos regionais se apresentam não somente como instrumentos de convergência de esforços para alcançar objetivos comuns, mas também refrear e enfrentar ameaças identificadas. Ao atentar-se para o desenvolvimento da Associação das Nações do Sudeste Asiático (ASEAN), foi possível visualizar um instrumento que tem sido exitoso tanto na promoção da globalização defendida por seus Estados-membros, como no fortalecimento e ampliação do comércio, investimento e relações extrarregionais do bloco. Entretanto, nas últimas décadas, constataram-se crescentes mudanças e disputas de poder na dinâmica internacional que apresentam novos desafios aos projetos e esforços regionais. Entre os atores de disputa que pressionam o Sudeste Asiático em suas tomadas de decisão e cooperação estão a China e o Japão. Através de uma análise qualitativa e documental, este artigo tem como objetivo avaliar a trajetória da ASEAN, buscando compreender sua atuação e direcionamento em um mundo em transição, de disputas e mudanças, tendo como foco de análise as condutas da China e do Japão diante do bloco e seus impactos tanto no nível de interação regional, como de sua projeção internacional. Argumenta-se que, apesar de ser percebida como um fórum de discussão com limitadas capacidades de ação, a ASEAN, na realidade, tem sido bem-sucedida em garantir a autonomia e legitimidade do bloco e de seus Estado-membros - mesmo perante um mundo em transição.
Palavras-chave: ASEAN; China; Japão.

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ABSTRACT
Regional mechanisms present themselves not only as instruments for converging efforts to achieve common goals but also to curb and address identified threats. By focusing on the development of the Association of Southeast Asian Nations (ASEAN), it was possible to see an instrument that has been successful both in promoting the globalization advocated by its member states and in strengthening and expanding the bloc's trade, investment, and extra-regional relations. However, in recent decades, there have been increasing changes and power struggles in the international dynamic that present new challenges to regional projects and efforts. Among the disputing actors pressuring Southeast Asia in its decision-making and cooperation are China and Japan. Through a qualitative and documentary analysis, this article aims to evaluate the trajectory of ASEAN, seeking to understand its performance and direction in a world in transition, marked by disputes and changes, with a focus on the conduct of China and Japan towards the bloc and their impacts both on the level of regional interaction and on its international projection. It is argued that, despite being perceived as a discussion forum with limited capacities for action, ASEAN has been successful in ensuring the autonomy and legitimacy of the bloc and its member states—even in the face of a world in transition.
Keywords: ASEAN; China; Japan.
As Trajetórias Paralelas Da Cooperação Internacional Para O Desenvolvimento E Do Regionalismo Latino-Americano: Uma Análise Comparativa Histórico-Estrutural | The Parallel Trajectories Of International Cooperation For Development And Latin American Regionalism: A Historical-Structural Comparative Analysis
Authors: Vieira da Silva Rafael 
Published: January 2025

RESUMO
O artigo examina a trajetória desde a segunda metade do século XX até a contemporaneidade do regionalismo latino-americano e a compara com a trajetória da Cooperação Internacional para o Desenvolvimento no mesmo período. São delineados em contornos gerais três períodos do regionalismo latino-americano: o regionalismo fechado (ou desenvolvimentista), o regionalismo aberto (ou neoliberal) e o regionalismo pós-neoliberal ou (pós-hegemônico). Esses recortes são comparados com três momentos-chave da história da cooperação internacional: a proposta da Nova Ordem Econômica Internacional, a ascensão do discurso neoliberal no Sistema Internacional de Cooperação para o Desenvolvimento e a consolidação dos BRICS como articuladores de uma nova cooperação Sul-Sul no século XXI. Utiliza-se a análise histórica comparativa em conjunto com a perspectiva teórica neogramsciana e o materialismo histórico transnacional associado a esta. Por meio do conceito abrangente de controle associado a cada um dos recortes avaliados, argumenta-se que há uma convergência dialética entre as trajetórias da integração regional latino-americana e da cooperação internacional, indicando que as limitações de ambas têm a mesma fonte estrutural: o padrão de acumulação de capital dominante.
Palavras-chave: Regionalismo latino-americano; Cooperação Internacional para o Desenvolvimento; Materialismo histórico transnacional.

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ABSTRACT
This article examines the trajectory of Latin American regionalism from the second half of the 20th century to the present and compares it with the trajectory of International Cooperation for Development during the same period. Three general periods of Latin American regionalism are outlined: closed (or developmentalist) regionalism, open (or neoliberal) regionalism, and post-neoliberal (or post-hegemonic) regionalism. These periods are compared with three key moments in the history of international cooperation: the proposal of the New International Economic Order, the rise of neoliberal discourse in the international development cooperation System, and the consolidation of the BRICS as articulators of a new South-South cooperation in the 21st century. The comparative historical analysis is used in conjunction with the neo-Gramscian theoretical perspective and the transnational historical materialism associated with it. Through the comprehensive concept of control associated with each evaluated period, it is argued that there is a dialectical convergence between the trajectories of Latin American regional integration and international cooperation, indicating that the limitations of both have the same structural source: the dominant pattern of capital accumulation.
Keywords: Latin American regionalismo; International Cooperation for Development; transnational historical materialism.