bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prognostic and clinicopathological significance of long noncoding RNA SNHG in patients with breast cancer: A systematic review and meta-analysis
Authors: Koh Hyun Min , Han Nayoung , Hyun Chang Lim 
Published: February 2025

Background:
Small nucleolar RNA host genes (SNHG), a novel long non-coding RNA is involved in cancer cell proliferation, migration, and invasion. Moreover, there are some reports that SNHG is associated with prognosis in cancer patients and may contribute to diagnosis or prognostic prediction of cancer. This study analyzes the association between SNHGs expression and prognosis and clinicopathological factors in breast cancer.

Methods:
Eligible studies were searched through the PubMed, Embase, and Cochrane library until February 14, 2024. Pooled hazard ratio (HR) and odds ratio (OR) with 95% confidence interval (CI) were calculated to elucidate the prognostic and clinicopathological significance of SNHG expression in breast cancer.

Results:
Nine studies with a total of 2268 breast cancer patients analyzed. The pooled results proved that high expression of SNHG was associated with unfavorable overall survival (OS) in patients with breast cancer (HR 1.39, 95% CI 1.22–1.59, P < .001). High expression of SNHG was significantly correlated with advanced clinicopathological factors, including larger tumor size (OR 2.31, 95% CI 1.42–3.76, P = .001), lymph node metastasis (OR 4.02, 95% CI 2.46–6.56, P < .001) and tumor-node-metastasis stage (OR 3.47, 95% CI 1.70–7.07, P = .001).

Conclusion:
High expression of SNHG was associated with unfavorable OS and advanced clinicopathological factors, suggesting that SHNG may be serve as a novel prognostic biomarker in patients with breast cancer.
Identity formation, personality, and well-being in adolescent and emerging adult siblings of survivors of pediatric cancer
Authors: Lemiere Jurgen , Raymaekers Koen , Prikken Sofie , Van Laere Elise , Sleurs Charlotte , Uyttebroeck Anne , Luyckx Koen 
Published: February 2025

Abstract

Background:
Siblings of pediatric cancer survivors are increasingly recognized as a potential vulnerable group requiring focused psychosocial support. However, little is known whether the experience of having a sibling with cancer affects their identity formation and personality traits. This study aimed to compare adolescent and emerging adult siblings of pediatric cancer survivors and control participants on identity formation, personality traits, and general well-being.

Methods:
Each sibling (n=80; mean age: 19.13 years; 49% male; age range: 14–25; mean time since diagnosis: 10.57 years) was matched on age and gender with two community youths without a history of having a chronic disease. Analysis of variance was used to assess group differences in the measures of identity formation, personality traits, and general well-being.

Results:
Siblings of pediatric cancer survivors exhibited lower levels of agreeableness, conscientiousness, openness, self-esteem, and life satisfaction compared with community youth. Gender played a significant role in identity and personality among siblings, with female siblings showing higher scores on identity confusion, neuroticism, and openness and lower scores on identity synthesis than male siblings. Other demographic or clinical variables showed no significant relationship. Siblings' self-esteem, life satisfaction, and depressive symptoms were strongly associated with their identity formation and personality traits, similar to patterns observed in the general community.

Conclusions:
Our study suggests that siblings of pediatric cancer survivors may face changes in personality traits and overall well-being, although their identity development is largely comparable with that of community youth. Not only are pediatric cancer survivors and their parents vulnerable for potential psychosocial sequelae, but so are survivors' siblings. Our results highlight the importance of assessing and targeting broader aspects of psychosocial well-being, considering both positive and negative indicators of well-being, and also aspects of identity and personality.
Efficacy and Safety of the Two-Drug Regimen Dolutegravir/Lamivudine in Adolescents Living With HIV-1 Naive to Antiretroviral Therapy at 48 Weeks (DANCE): A Single-Arm, Open-label, Phase 3b Trial
Authors: Puthanakit Thanyawee , Aurpibul Linda , Lopez Monica , Wang Marcia , Ciuffa Marika , Bontempo Gilda , Cheung S. Y. Amy , Deprez Isabelle , Buchanan Ann M. , Vavro Cindy , McKenna Michael , Min Sherene , Tan Lionel K. 
Published: February 2025

Background:
Dolutegravir/Lamivudine is recommended for initial antiretroviral therapy (ART) in adults living with HIV-1; however, no clinical trials have assessed this regimen in adolescents, a potentially more challenging population to treat. We evaluated efficacy, safety, and pharmacokinetics of dolutegravir/lamivudine as initial ART in adolescents living with HIV-1.

Setting:
Nine centers in Thailand, Kenya, and South Africa.

Methods:
In the single-arm, open-label, phase 3b DANCE study (NCT03682848), adolescents naive to ART aged ≥12 to <18 years, weighing ≥25 kg, with plasma HIV-1 RNA 1000 to ≤500,000 copies/mL received single once-daily dolutegravir/lamivudine fixed-dose combination tablet orally for 48 weeks (treatment phase). The primary endpoint was proportion of participants with HIV-1 RNA <50 copies/mL at Week 48 (Snapshot; intention-to-treat–exposed [ITT-E] population). Safety outcomes were evaluated in the safety population. Both the ITT-E and safety populations consisted of participants who received ≥1 dose of dolutegravir/lamivudine (N=32). A sensitivity analysis was performed using data from all but two participants who were withdrawn before Week 48 due to site closure (n=30).

Results:
At Week 48, 26/32 (81%; 95% CI, 64%-93%) participants had HIV-1 RNA <50 copies/mL; in sensitivity analyses, 26/30 (87%; 95% CI, 69%-96%) achieved virologic suppression. No confirmed virologic withdrawals or deaths were reported. One drug-related adverse event was reported (grade 3 decreased glomerular filtration rate) and was the only adverse event leading to study withdrawal at data cut. Pharmacokinetic parameters were comparable to adult systemic exposure ranges.

Conclusion:
Dolutegravir/Lamivudine demonstrated efficacy and safety as initial ART in adolescents with HIV-1 through 48 weeks.
Pelvic Floor Health Knowledge With Enhanced Education During Pregnancy
Authors: Nicola-Ducey Lauren , Ward Lucy , Holland Amanda , Cichowski Sara , Boniface Emily , Gregory W. Thomas 
Published: February 2025

Importance
Prior to delivery, there are postpartum pelvic floor recovery topics to provide education on; however, because of a variety of factors, the majority of these are commonly unaddressed, leaving a patient unknowledgeable and unsatisfied.

Objective
The primary aim of this study was to determine if providing tailored/targeted pelvic floor disorder education in the peripartum period will improve nulliparous patients' knowledge of pelvic organ prolapse (POP) and urinary incontinence (UI). Our secondary aim was to evaluate if a difference exists in patient satisfaction and understanding.

Study Design
This was a single-site nonrandomized interventional study evaluating pregnant patients currently enrolled in an interactive electronic educational platform. We evaluated the change in Prolapse and Incontinence Knowledge Questionnaire (PIKQ) scores at 26–27 weeks antepartum and 6 weeks postpartum in 2 separate cohorts, before and after our education intervention was implemented. We also compared the magnitude of the change in PIKQ scores between the nonintervention and intervention postpartum cohorts as our primary outcome.

Results
We compared the change in PIKQ mean scores between the control and intervention cohorts and found no statistical difference in change of UI (0.1 ± 1.8 vs 0.5 ± 1.9, P = 0.218) or POP knowledge (0.9 ± 2.5 vs 0.8 ± 2.4, P = 0.681). In addition, no significant change was detected in mean PIKQ UI scores for the control group between the antepartum and postpartum period (9.9 ± 2.4 vs 10.1 ± 2.1, P = 0.445), but there was a statistically significant change in POP knowledge scores (7.0 ± 3.3 vs 7.9 ± 3.1, P < 0.001). In the intervention cohort, there was a statistically significant change in both UI (9.3 ± 2.6 vs 9.8 ± 2.2, P = 0.012) and POP knowledge scores (6.7 ± 3.4 vs 7.5 ± 3.2, P = 0.001).

Conclusions
We did not detect a significant difference in mean score change between our cohorts following implementation of a targeted educational intervention using an online educational platform. However, both cohorts had higher than anticipated baseline knowledge on pelvic floor disorders.
Polygenic susceptibility to dilated cardiomyopathy underlies peripartum, alcohol-induced, and cancer therapy-related cardiomyopathies
Authors: Maamari Dimitri J. , Biddinger Kiran J. , Jurgens Sean J. , Rämö Joel T. , Gaziano Liam , Zheng Alice , Hayes Dolphurs , Gongora Carlos A. ,   FinnGen, Choi Seung Hoan , Arany Zoltan , Thavendiranathan Paaladinesh , Fahed Akl C. , Sarma Amy A. , Neilan Tomas G. , Khera Amit V. , Ellinor Patrick T. , Aragam Krishna G. 
Published: February 2025

ABSTRACTBackgroundRare (monogenic) variants linked to non-ischemic dilated cardiomyopathy (DCM) are enriched among individuals with peripartum (PPCM), alcohol-induced (ALCM), and cancer therapy-related (CCM) cardiomyopathies, but are present in less than 15% of cases. Whether a common variant (polygenic) predisposition to DCM also pervades these secondary cardiomyopathies remains unclear.MethodsWe evaluated the association of a DCM polygenic score with PPCM, ALCM, and CCM in the Mass General Brigham (MGB) Biobank (n = 42,137), with replication in the UK Biobank (n = 295,160) and FinnGen (n = 417,950). We then assessed the proportion of cases with a monogenic variant and/or a high polygenic score (defined as > 80thpercentile of the score distribution). Finally, we queried medical charts to ascertain whether cardiomyopathy onset in those at high polygenic risk might have been heralded by relevant clinical risk factors.ResultsWe identified 415 individuals with a secondary cardiomyopathy (30 with PPCM, 275 with ALCM, and 110 for CCM) across the three cohorts. The DCM polygenic score associated with PPCM (OR = 1.88 per 1 standard deviation (SD) increase in polygenic score, p= 0.001), ALCM (OR per SD = 1.38, p = 1.46E-07), and CCM (OR per SD = 1.58, p = 2.97E-06). Monogenic DCM variants were strongly associated with PPCM, ALCM, and CCM, but were present in less than 10% of cases. Roughly 40% of all secondary cardiomyopathy cases had a high polygenic score, which conferred ∼3-fold odds of cardiomyopathy (p <0.001). Most secondary cardiomyopathy cases lacked known antecedent clinical risk factors.ConclusionCases of PPCM, ALCM, and CCM are enriched for monogenic DCM variants and a high DCM polygenic score, further supporting a shared genetic susceptibility influenced by distinct environmental precipitants. Considering both monogenic and polygenic risk for DCM may improve identification of individuals predisposed to secondary cardiomyopathies, particularly among those lacking established clinical risk factors.
Revealing Gender Differences in Concussion Reporting: A Detailed Analysis of SCAT Assessment Self-Report Symptom Ratings
Authors: Edelstein Rachel , Schmidt Karen M. , Van Horn John Darrell 
Published: February 2025

AbstractCurrent concussion assessments used by the NCAA are typically applied across both male and female athletes to assess the effects of sports-related head impacts. However, increasing evidence suggests that female athletes exhibit different physiological and psychosocial responses to concussions compared to their male counterparts, raising concerns about the appropriateness of gender-blind concussion assessment. This study analyzes data from 1,021 NCAA athletes (379 females, 642 males) who completed the SCAT3 Symptom Severity Checklist post-concussion. A systematic use of multivariate statistical approaches including Exploratory Graph Analysis (EGA), Principal Component Analysis (PCA), Exploratory Factor Analysis (EFA), Linear Discriminant Analysis (LDA), and Rasch Partial Credit Modeling (PCM) was employed on this 22-item instrument to explore the latent factor structure and to detect assessment items sensitive to potential gender differences. Differential Item Functioning (DIF) analysis was used to investigate gender disparities in symptom reporting. Based on EGA and PCA, the SCAT3 exhibited a four-factor substructure, with an EFA accounting for 62.44% of the variance. LDA between males and females displayed a statistically significant difference in the multivariate distributions of male and female scores (χ2(22) = 130.56, p < .001), indicating that emotional and physical symptom items loaded negatively, whereas cognitive and sensory-based items loaded positively. A closer examination of each assessment item via Rasch analysis revealed three items having zero difference between males and females. In contrast, nine symptoms indicated males were more likely to report higher severity. However, males generally reported overall lower total symptom severity scores (M = 30.06, SD = 20.88) and males (M = 24.71, SD = 21.18), t(765.06) = 3.85, p < .001. These differences in how athletes of differing genders present symptoms post-concussion may indicate that 1) males may be more conservative in their reporting and only endorse symptoms when they are felt to be more intense, contributing to high scores on a smaller number of symptoms, whereas 2) females may emphasize emotional and physical symptoms more readily. The results of this examination suggest that attention to gender differences in concussion symptom reporting should be considered in making clinical recommendations on concussion recovery and return-to-play decision-making.
Strategic Decision Making in Biological and Artificial Brains
Authors: Deshpande Anushka 
Published: February 2025

AbstractThe aim of this paper is twofold. First, it seeks to uncover the algorithms that humans and other animals employ for learning in decision-making strategies within non-zero-sum games, specifically focusing on fully observable iterated prisoner’s dilemma scenarios. Second, it aims to develop a new model to explain strategic decision-making which reflects previous neurobiological findings showing that different brain circuits are responsible for self-referential processing and understanding others. The model stems from the actor-critic framework and incorporates multiple critics to allow for distinct processing of both self and others’ state. We validate the biological plausibility and transferability of our algorithm through comparisons with experimental data from human on the iterated prisoner’s dilemma game.
Immunological characterization of peritoneal exudate cells in liver cirrhosis patients
Authors: Kaji Shiori , Sasaki Izumi , Kunimoto Satoko , Wakaki-Nishiyama Naoko , Tosuji Emi , Kurara Ayano , Kato Takashi , Mutsukawa Chisako , Okuzaki Daisuke , Okamoto Chizuyo , Yamano Yukiko , Shimizu Ryo , Maeshima Shuya , Ida Yoshiyuki , Yamashita Yasunobu , Hashimoto Tadamichi , Iwabuchi Sadahiro , Hashimoto Shinichi , Saitoh Shin-Ichiroh , Araki Shin-ichi , Kitano Masayuki , Kaisho Tsuneyasu 
Published: February 2025

ABSTRACTBACKGROUND AND AIMSLiver cirrhosis (LC) is the end stage of liver fibrosis caused by various chronic liver diseases. Patients with LC often develop ascites containing peritoneal exudate cells (PECs). However, those cells have not been fully immunologically characterized. In this study, we clarify immune cell profiles of PECs from patients with LC.APPROACH AND RESULTSPECs were collected from patients with LC or patients receiving continuous ambulatory peritoneal dialysis (CAPD) as a non-cirrhotic control and subjected to single-cell RNA sequencing (scRNA-seq), bulk RNA sequencing (RNA-seq) and flowcytometry analyses. Analysis of scRNA-seq revealed that dendritic cells (DCs) and macrophages were major populations in CAPD patient-derived PECs, while those cells were decreased and T cells were most abundant in LC patient-derived PECs. Notably,FCGR3A-expressing macrophages were dominant over DCs andGATA6-expressing macrophages in LC patient-derived PECs. Bulk RNA-seq analysis further clarified expression of a set of genes was up- or down-regulated along with LC severity. Especially, expression of T cell signature genes was featured by its increase at Child-Pugh class B, but decrease at Child-Pugh class C. Flowcytometry analysis showed increase of T cells, decrease of DCs and macrophages, and increased expression of CD16 and CD163 in CD1cintCD14highcells corresponding toFCGR3A-expressing macrophages in LC patient-derived PECs.CONCLUSIONSIn LC patient-derived PECs, myeloid and T cell populations and their gene expression profiles were fluctuated with severity. Our findings should contribute to further development of diagnosis or therapeutic maneuver for LC.
Somatic repetitive element insertions Define New Biomarkers in Pan-cancer genome
Authors: Xia Lin , Tu Kailing , Wang Huan , Liu Xuyan , Liu Yahui , Zhang Qilin , Feng Ziting , Yu Chunyan , Li Maolin , Huang Yan , Wang Jing , Wei Ranlei , Zeng Tianfu , Pi Xuenan , Ling Chen , Zhang Qianwen , Qiao Yixin , Hou Shengzhong , Zhang Zhuoyuan , Wei Ailin , Liao Haotian , Liu Jifeng , Wu Zhong , Wang Zhoufeng , Li Ang , Li Weiming , Xie Dan 
Published: February 2025

AbstractRepetitive elements insertions (REIs), including tandem repeat insertions (TRIs) and transposable element insertions (TEIs), which account for over 90% of large-scale (>50 bp) somatic insertions, are known to cause diseases and serve as biomarkers for precision oncology in cancers. However, the genomic landscape of large-scale REIs has not been systematically characterized in pan-cancer, primarily due to the limitations of short-read sequencing (SRS). Here, we precisely detected somatic REIs in 325 cancer genomes spanning 12 cancer types using long-read whole-genome sequencing technology and customized algorithms. The diverse sequence patterns of somatic TRIs and the insertion mechanisms of somatic TEs were characterized across different cancer types. A total of 152 high-frequency somatic TRIs were identified. Among these, 10 TRIs demonstrated significant pan-cancer shared characteristics, including somatic TRI events located within the intron ofSHROOM2andPALMD, as well as in the distal enhancer region upstream ofPTPRZ1. The MHC class II gene cluster exhibited the highest somatic TEI abundance, affecting ∼40% tumors. Adenocarcinomas and squamous cell carcinomas exhibit differing TEI distributions and varying levels of abundance within this region. Overall, our study suggests that REIs are important but under-explored sources of markers for personalized cancer diagnosis and immunotherapy.
Y665F variant of mouseStat5bprotects against acute kidney injury through transcriptomic shifts in renal gene expression
Authors: Jankowski Jakub , Lee Hye Kyung , Hennighausen Lothar 
Published: February 2025

ABSTRACTThe impact of single nucleotide polymorphisms (SNP) on physiology is often underestimated. One amino acid change can result in a variety of phenotypes apparent only in response to disease or injury. Even known pathogenic SNPs have widespread effects that are currently unaccounted for. In this study, we investigated the impact of the known activating and pathogenicSTAT5BY665Fmutation in a renal injury context in mice carrying this variant. Using ischemia-reperfusion model of acute kidney injury, immunohistochemistry, RNA-seq and ChIP-seq, we establish the protective role of STAT5B activation in renal epithelium and showcase the shifts in transcriptomic landscape in a tissue not associated with the usual human phenotype of theStat5bY665Fmutation. Our data indicate new links between the JAK/STAT pathway and known kidney injury markers, contribute to the understanding of the sexual dimorphism of renal disease, and provide new potential targets for JAK inhibitor– and amino acid transport modulation-based therapies.
PRDM16 controls smooth muscle cell fate in atherosclerosis
Authors: Tan Josephine M.E. , Cheng Lan , Calhoun Ryan P. , Weller Angela H. , Drareni Karima , Fong Skylar , Barbara Eirlys , Lim Hee-Woong , Xue Chenyi , Winter Hanna , Auguste Gaëlle , Miller Clint L. , Reilly Muredach P. , Maegdefessel Lars , Lutgens Esther , Seale Patrick 
Published: February 2025

SummaryVascular smooth muscle cells (SMCs) normally exist in a contractile state but can undergo fate switching to produce various cell phenotypes in response to pathologic stimuli1–3. In atherosclerosis, these phenotypically modulated SMCs regulate plaque composition and influence the risk of major adverse cardiovascular events4,5. We found that PRDM16, a transcription factor that is genetically associated with cardiovascular disease, is highly expressed in arterial SMCs and downregulated during SMC fate switching in human and mouse atherosclerosis. Loss ofPrdm16in SMCs of mice activates a synthetic modulation program under homeostatic conditions. Single cell analyses show that loss ofPrdm16drives a synthetic program in all SMC populations. Upon exposure to atherogenic stimuli, SMC-selectivePrdm16deficient mice develop SMC-rich, fibroproliferative plaques that contain few foam cells. Acute loss ofPrdm16results in the formation of collagen-rich lesions with thick fibrous caps. Reciprocally, increasing PRDM16 expression in SMCs blocks synthetic processes, including migration, proliferation, and fibrosis. Mechanistically, PRDM16 binds to chromatin and decreases activating histone marks at synthetic genes. Altogether, these results define PRDM16 as a critical determinant of SMC identity and atherosclerotic lesion composition.
Intervention Mapping: A Multi-stage investigation to Control Respiratory Tract Infections at Primary Level
Authors: Mahmood Shahzad , Chaudary Nauman Ali , Nawaz Mariam , Nazir Mohsin , Mahmood Muhammad Shahid 
Published: February 2025

AbstractRespiratory Tract Infections are the major health hazard to humanity, nowadays. This research aims at the development and implementation of evidence-based intervention at primary healthcare level, in order to control Respiratory Tract Infections, called Intervention Mapping(IM). It comprises multiple phases, focussing on specific needs of the target population and ensuring that intervention should be based on behavioral and systematic change. The study has a mixed design, quantitative and qualitative approach, involving multiple stakeholders, community’s participation and healthcare worker’s collaboration, to control infectious diseases at primary healthcare level and thereby to reduce the burden of diseases.The study comprises three phases including a pre-intervention phase in which disease load was assessed and the need of particular intervention was analyzed. A multi-targeted public health intervention, incorporating health education, environmental modification, and policy changes, was designed and applied after community analysis. This phase is preceded by the insight development phase which showcased the vitality of community based intervention. The infectivity of respiratory tract infections is studied under two categories. The gender based segregation provided an insight on the spread of respiratory tract infections in males and females, and a subsequent reduction in disease load among both the genders. The second form of study is focussed of age based separation and disease load. The effectiveness of the research can be analyzed by a remarkable decrease in the respiratory diseases in a community.According to the study’s findings, epidemiologic burden of respiratory infectious diseases can be trimmed by community strengthening activities including population sensitization, community health initiatives, targeting at-risk population, and engaging key actors of the area. This translational research provides a policy recommendation for health promotion, disease prevention, and intervention mapping in a resource-constrained environment. However, the pathway stipulated by the study revolves around shifting from a curative model of healthcare to the preventive model at primary health level.