bluuebunny/crossref_metadata_2025_split huggingface dataset:
Midterm Outcome of Aortic Dissection Associated With Aberrant Subclavian Artery: A Single-Center Retrospective Observational Study
Authors: Sun Yangxue , Gu Yuanrui , Dong Shuo , Huang Lingchen , Shao Zehua , Xu Haitao , Du Chuhao , Dong Jie , Guo Hongwei 
Published: December 2024

Purpose: The aberrant subclavian artery (aSA) is a rare anomaly of the aortic branches. Approximately 20–60% of patients with an aSA are associated with Kommerell’s diverticulum (KD). These vascular anomalies have been reported to increase the risk of aortic rupture (4–19%) and aortic dissection. However, limited studies have investigated the treatment of aortic dissection in patients with aSA and KD. This study aims to investigate clinical characteristics and midterm follow-up outcomes of patients with aortic dissection associated with aSA. Materials and methods: Between 2011 and 2021, a total of 48 patients with aSA anomalies underwent aortic dissection surgical intervention. Surgical interventions include open surgery, hybrid surgery, and endovascular therapy. Among them, 20 (41.7%) had Stanford type A dissection, 9 (18.8%) had Stanford type B dissection, and 19 (39.6%) had non-A non-B dissection. We report the early and midterm clinical outcomes including mortality, central nervous system complication and respiratory complication, and other operative outcomes including reintervention rates and endoleak. A subgroup analysis of the surgical and postoperative conditions was performed on Stanford type B and non-A non-B aortic dissection patients. Results: The mean age of the patient population was 48.81±9.65 years. The 30-day mortality rate was 12.5%. The overall mortality rate was 20.8%, with a median follow-up time of 4.5 years (interquartile range [IQR]: 2–8.75 years). Central nervous system complications occurred in 8 patients (16.7%), subclavian steal syndrome in 6 patients (12.5%), and respiratory complications in 3 patients (6.2%). The estimated Kaplan–Meier survival rates at 1 year, 3 years, 5 years, and 7 years after surgery were, respectively, 87.0%, 82.5%, 79.7%, and 75.1%. For Stanford type B and non-A non-B aortic dissection patients, the 30-day mortality rate between the open surgery group and the minimally invasive group had no statistically significant differences (18.3% vs 8.3%, p=0.815). Conclusions: Surgical intervention for aSA patients with aortic dissection has poor outcomes. Early intervention might be considered for patients with aSA and KD to prevent the occurrence of aortic dissection. Clinical Impact Aberrant subclavian artery (aSA) and Kommerell’s diverticulum (KD) have been reported to increase the risk of aortic rupture and aortic dissection. This study is currently the largest single-center retrospective study on aSA combined with aortic dissection, providing standardized data reporting and midterm follow-up of patients with this rare vascular anomaly.
Factors Associated With Not Returning to Work Among Breast Cancer Survivors
Authors: Merdawati Leni , Lin Hui-Chen , Pan Chieh-Hsin , Huang Hui-Chuan 
Published: December 2024

Background: Returning to work (RTW) is a crucial aspect of recovery for patients with breast cancer (BC), which indicates restored normalcy, financial stability, functional abilities, and an improved quality of life. However, associated factors related to not RTW among patients with BC remain unclear. In this study, we examined associated factors of not RTW among patients with BC. Methods: A cross-sectional study and convenience sampling were conducted in two hospitals in Indonesia to recruit eligible participants. Factors related to not RTW were collected and included symptoms of distress, loneliness, anxiety/depression, perceived social support, and frailty. A logistic regression model was performed to explore associated factors of not RTW. Findings: In total, 250 patients with BC were included in this study, and 148 of them experienced not RTW. Anxiety, loneliness, frailty, and social support emerged as significant factors associated with not RTW. BC patients who had a higher anxiety level (odds ratio [ OR]: 5.30; 95% confidence interval [CI] [2.16, 12.98]), had high loneliness ( OR: 3.15, 95% CI [1.29, 7.67]), or were frail ( OR: 2.53; 95% CI [1.07, 5.98]) had a higher risk of not RTW. BC patients with lower social support ( OR: 5.65; 95% CI [1.81, 17.63]) had a higher risk of not RTW. Conclusion/Applications to Practice: Occupational health professionals can offer early counseling, health education, and support strategies to patients with BC, assisting their preparations in terms of both physical and psychological functions for successfully RTW.
Preliminary exploration of metagenomic sequencing for pathogenic identification in infectious uveitis
Authors: Yu Jinxia , Gao Yane , Bi Hongsheng , Zhang Youhua , Tang Kai , Guo Dadong , Xie Xiaofeng 
Published: December 2024

Abstract
Purpose
To evaluate the advantages and clinical utility of metagenomic sequencing (MGS) in diagnosing infectious uveitis pathogens.

Methods
A retrospective study was conducted on 20 infectious uveitis patients (20 eyes) who received treatments at the Affiliated Eye Hospital of Shandong University of Traditional Chinese Medicine from May 2020 to February 2021. Anterior aqueous humor of the patients was collected and analyzed using MGS. Then, pathogenic microorganisms that cause uveitis were identified through bioinformatic analyses based on the sequencing data of MGS. Finally, the pathogens identified by MGS were verified using both enzyme-linked immune sorbent assay (ELISA) and quantitative PCR (qPCR).

Results
MGS was used to detect viral pathogens in four patients, bacterial pathogens in two patients, and viral and bacterial pathogens in one patient. Among these seven subjects, five were verified by either ELISA or qPCR.

Conclusions
MGS holds significant value and promising potential in diagnosing infectious uveitis pathogens. However, it cannot completely replace the traditional diagnostic techniques and still needs to be integrated with conventional methods to enhance the sensitivity and specificity of pathogen detection. As a pioneering technology, MGS will advance the field of pathogen diagnosis in infectious uveitis.
Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci
Authors: Berthold Natasha , Gaudieri Silvana , Hood Sean , Tschochner Monika , Miller Allison L. , Jordan Jennifer , Thornton Laura M. , Bulik Cynthia M. , Akkari Patrick Anthony , Kennedy Martin A. 
Published: December 2024

Abstract
Background
Anorexia nervosa (AN) is a polygenic, severe metabopsychiatric disorder with poorly understood aetiology. Eight significant loci have been identified by genome-wide association studies (GWAS) and single nucleotide polymorphism (SNP)-based heritability was estimated to be ~ 11–17, yet causal variants remain elusive. It is therefore important to define the full spectrum of genetic variants in the wider regions surrounding these significantly associated loci. The hypothesis we evaluate here is that unrecognised or relatively unexplored variants in these regions exist and are promising targets for future functional analyses. To test this hypothesis, we implemented a novel approach with targeted nanopore sequencing (Oxford Nanopore Technologies) for 200 kb regions centred on each of the eight AN-associated loci in 10 AN case samples. Our bioinformatics pipeline entailed base-calling and alignment with Dorado and minimap2 software, followed by variant calling with four separate tools, Sniffles2, Clair3, Straglr, and NanoVar. We then leveraged publicly available databases to characterise these loci in putative functional context and prioritise a subset of potentially relevant variants.

Results
Targeted nanopore sequencing effectively enriched the target regions (average coverage 14.64x). To test our hypothesis, we curated a list of 20 prioritised variants in non-coding regions, poorly represented in the current human reference genome but that may have functional consequences in AN pathology. Notably, we identified a polymorphic SINE-VNTR-Alu like sub-family D element (SVA-D), intergenic with IP6K2 and PRKAR2A, and a poly-T short tandem repeat (STR) in the 3ʹUTR of FOXP1.

Conclusions
Our results highlight the potential of targeted nanopore sequencing for characterising poorly resolved or complex variation, which may be initially obscured in risk-associated regions detected by GWAS. Some of the variants identified in this way, such as the polymorphic SVA-D and poly-T STR, could contribute to mechanisms of phenotypic risk, through regulation of several neighbouring genes implicated in AN biology, and affect post-transcriptional processing of FOXP1, respectively. This exploratory investigation was not powered to detect functional effects, however, the variants we observed using this method are poorly represented in the current human reference genome and accompanying databases, and further examination of these may provide new opportunities for improved understanding of genetic risk mechanisms of AN.
Research on health information avoidance behavior and influencing factors of cancer patients—an empirical analysis based on structural equation modeling
Authors: Zhu Rui , Zhao Hui , Yun Yun , Zhao Yue , Wang Weixian , Wang Lingmeng , Hou Wenjie , Wang Fuzhi 
Published: December 2024

Abstract
Objective
To explore the health information avoidance behaviors and influencing factors of cancer patients, and to construct a structural equation model to analyze the mediating roles of self-efficacy and negative emotions in the process of generating health information avoidance behaviors of cancer patients.

Methods
A face-to-face electronic questionnaire was used to collect data. Applying a chi-square test and multivariate logistic regression model to analyze the role of different socio-demographic factors in influencing health information avoidance behavior of cancer patients; applying structural equation modeling to analyze the role mechanism of health information avoidance behavior of cancer patients.

Results
The results of multivariate logistic regression analysis revealed that socio-demographic factors of per capita monthly household income, marital status, occupation, treatment modality, years of use of smart devices, and weekly hours of reading health information had an impact on health information avoidance behavior of cancer patients. All fit indices of the structural equation model were within acceptable limits,(CMIN/DF = 2.285,RMSEA = 0.045,CFI = 0.949,IFI = 0.949,RFI = 0.902,TLI = 0,942).The results of the mediating effect found that self-efficacy mediated the paths of information overload and privacy concern to health information avoidance behavior, respectively; negative emotions mediated the paths of information overload and privacy concern to health information avoidance behavior, respectively; and self-efficacy mediated the path from social support to health information avoidance behavior.

Conclusion
Sociodemographic factors influencing cancer patients' health information avoidance behaviors include per capita monthly household income, occupation, treatment modality, number of years of smart device use, and number of hours per week reading health information. Self-efficacy and negative emotions mediated the analytic model of health information avoidance behavior in cancer patients, respectively.
Tackling the primary healthcare workforce crisis: time to talk about health systems and governance—a comparative assessment of nine countries in the WHO European region
Authors: Kuhlmann Ellen , Falkenbach Michelle , Brînzac Monica Georgina , Correia Tiago , Panagioti Maria , Rechel Bernd , Sagan Anna , Santric-Milicevic Milena , Ungureanu Marius-Ionuț , Wallenburg Iris , Burau Viola 
Published: December 2024

Abstract
Background
Primary healthcare has emerged as a powerful global concept, but little attention has been directed towards the pivotal role of the healthcare workforce and the diverse institutional setting in which they work. This study aims to bridge the gap between the primary healthcare policy and the ongoing healthcare workforce crisis debate by introducing a health system and governance approach to identify capacities that may help respond effectively to the HCWF crisis in health system contexts.

Methods
A qualitative comparative methodology was employed, and a rapid assessment of the primary healthcare workforce was conducted across nine countries: Denmark, Germany, Kazakhstan, Netherlands, Portugal, Romania, Serbia, Switzerland, and the United Kingdom/ England.

Results
Our findings reveal both convergence and pronounced diversity across the healthcare systems, with none fully aligning with the ideal attributes of primary healthcare suggested by WHO. However, across all categories, Denmark, the Netherlands, and to a lesser extent Kazakhstan, depict closer alignment to this model than the other countries. Workforce composition and skill-mix vary strongly, while disparities persist in education and data availability, particularly within Social Health Insurance systems. Policy responses and interventions span governance, organisational, and professional realms, although with weaknesses in the implementation of policies and a systematic lack of data and evaluation.

Conclusions
Aligning primary healthcare and workforce considerations within the broader health system context may help move the debate forward and build governance capacities to improve resilience in both areas.
Windsock mitral valve after prior aortic valve endocarditis
Authors: Kang Augustine W. , Wang Hanjay , Libert Diane M. , Berry Gerald J. , Boyd Jack H. 
Published: December 2024

Abstract
Background
Windsock deformities, though rare, represent a severe form of valvular aneurysm distinguished by localized balloon-like protrusions of the leaflet body. Here, we present a compelling case of windsock mitral valve (MV) formation subsequent to incompletely managed aortic valve (AV) endocarditis. The case is illustrated through radiographic, intraoperative, and histopathologic images.

Case presentation
We present the case of a 44 year old male patient who presented with symptoms suggestive of infective endocarditis. Despite initiation of appropriate antimicrobial therapy and surgical intervention for AV involvement, the patient developed progressive valvular dysfunction. Subsequent imaging studies revealed the emergence of windsock deformity in the mitral valve apparatus. Intraoperative assessment confirmed the presence of this rare valvular anomaly, which was further corroborated by histopathologic examination.

Conclusions
We provide, for the first time in the literature, a clear intraoperative view and example of windsock mitral valve (MV) developing after incompletely treated aortic valve (AV) endocarditis.
Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations
Authors: Climent-Cantó Paula , Subirana-Granés Marc , Ramos-Rodríguez Mireia , Dámaso Estela , Marín Fátima , Vara Covadonga , Pérez-González Beatriz , Raurell Helena , Munté Elisabet , Soto José Luis , Alonso Ángel , Shin GiWon , Ji Hanlee , Hitchins Megan , Capellá Gabriel , Pasquali Lorenzo , Pineda Marta 
Published: December 2024

Abstract
Background
Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are “primary” epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations. We aimed to characterise genetic and gene regulatory changes associated with primary CME to elucidate possible underlying molecular mechanisms.

Methods
Four carriers of a primary CME and three non-methylated relatives carrying the same genetic haplotype were included. Genetic alterations were sought using linked-read WGS in blood DNA. Transcriptome (RNA-seq), chromatin landscape (ATAC-seq, H3K27ac CUT&Tag) and 3D chromatin interactions (UMI-4C) were studied in lymphoblastoid cell lines. The MLH1 promoter SNP (c.-93G > A, rs1800734) was used as a reporter in heterozygotes to assess allele-specific chromatin conformation states.

Results
MLH1 epimutant alleles presented a closed chromatin conformation and decreased levels of H3K27ac, as compared to the unmethylated allele. Moreover, the epimutant MLH1 promoter exhibited differential 3D chromatin contacts, including lost and gained interactions with distal regulatory elements. Of note, rare genetic alterations potentially affecting transcription factor binding sites were found in the promoter-contacting region of CME carriers.

Conclusions
Primary CMEs present allele-specific differential interaction patterns with neighbouring genes and regulatory elements. The role of the identified cis-regulatory regions in the molecular mechanism underlying the origin and maintenance of CME requires further investigation.
Platelet signaling in immune landscape: comprehensive mechanism and clinical therapy
Authors: Yan Mengyao , Wang Zhe , Qiu Zhiwei , Cui Yimin , Xiang Qian 
Published: December 2024

AbstractPlatelets are essential for blood clotting and maintaining normal hemostasis. In pathological conditions, platelets are increasingly recognized as crucial regulatory factors in various immune-mediated inflammatory diseases. Resting platelets are induced by various factors such as immune complexes through Fc receptors, platelet-targeting autoantibodies and other platelet-activating stimuli. Platelet activation in immunological processes involves the release of immune activation stimuli, antigen presentation and interaction with immune cells. Platelets participate in both the innate immune system (neutrophils, monocytes/macrophages, dendritic cells (DCs) and Natural Killer (NK) cells and the adaptive immune system (T and B cells). Clinical therapeutic strategies include targeting platelet activation, platelet-immune cell interaction and platelet-endothelial cell interaction, which display positive development prospects. Understanding the mechanisms of platelets in immunity is important, and developing targeted modulations of these mechanisms will pave the way for promising therapeutic strategies.
Assessment of cardio-oncology knowledge and practice among healthcare providers in Saudi Arabia: a comprehensive nationwide survey
Authors: Badreldin Hisham A. , Alsuhebany Nada , Alfehaid Lama , Alzahrani Mohammed , Aldoughaim Maha , Alrajhi Abdullah M. , Alsufyani Jumanah , Elsherif Dania , Alshammari Kanan 
Published: December 2024

Abstract
Introduction
The evolving field of oncology necessitates effective management of cancer-related cardiovascular diseases. In Saudi Arabia, the incidence of cancer is rising, and there is a critical need for cardio-oncology services to address cancer treatment-related cardiovascular toxicity. This study aimed to evaluate the knowledge and practices of healthcare providers (HCPs) in Saudi Arabia regarding cardio-oncology.

Methods
A cross-sectional study was conducted from January 2024 to April 2024 using an online survey targeting cardiologists, oncologists, and clinical pharmacists. The survey assessed demographics, perceptions of cardio-oncology, availability of services, and current practices. Data were analyzed using descriptive statistics, chi-squared tests, and bivariate analyses.

Results
The survey received responses from 116 HCPs, including cardiologists (63.79%), oncologists (23.28%), and clinical pharmacists (12.93%). Most participants had over six years of experience, and only one had formal cardio-oncology training. While 84.48% recognized the importance of managing cardiac complications in cancer patients, only 42.24% were familiar with existing guidelines. Limited training programs and institutional resources were significant barriers to implementing cardio-oncology services. Despite agreement on the need for cardiotoxicity management, only one-third recommended cardioprotective agents as standard care.

Conclusion
There is a notable deficiency in formal training and resources for cardio-oncology in Saudi Arabia. To bridge this gap, integrating cardio-oncology into training programs, establishing institutional guidelines, and adopting multidisciplinary care models are crucial. These measures will enhance the quality of care for cancer patients and improve their cardiovascular outcomes.
Sonographic assessment of hand and wrist tendons abnormalities
Authors: Habib Asmaa Hussein , El-Azizi Hatem Mohamed , Hefny Salma Hesham , Nouh Omar Mohammed 
Published: December 2024

Abstract
Background
Tendons of the hand and wrist are the seat of different types of pathologies that might be attributed to degenerative changes, inflammation, or even rupture. All of which can significantly impair hand functions and hence, the quality of life. Ultrasound can help diagnose a wide spectrum of tendon abnormalities and direct the surgical management in operable cases saving time and effort. The aim of this work was to evaluate the role of ultrasound in the assessment of different tendon pathologies in the hand and wrist and correlate imaging findings with clinical and operative data (in operable cases).

Methods
The study was conducted on 33 patients who presented with different tendon pathologies. After thorough history taking and clinical examination, US examinations were performed to both the affected and healthy hands. Continuity of the tendon, possible cause of restricted mobility, swellings as well as presence or absence of adhesions, tears, or associated vascular injury or retained foreign bodies were assessed. In operable cases, the surgery team provided feedback regarding the operative findings to correlate them with the US findings.

Results
The study included 33 patients; 20 males and 13 females, the majority of hand or wrist tendon abnormalities were encountered due to trauma, In this study flexor tendons were the most affected at 84.8% and 15.2% for extensors. US was used to diagnose trigger finger in 20.7%, adhesions at 6.9% of cases, tendon tears in 63.6% of study population. In flexor tendon tears, ultrasound and surgery findings were consistent with regard to the gap distance regarding in both the Flexor digitorum profundus and Flexor digitorum superficialis (FDS and FDP); with strong positive correlation between them (r = 0.995, and 0.959 respectively).

Conclusion
Ultrasound serves as an excellent diagnostic modality for assessment and management of various hand and wrist tendon abnormalities. It can pinpoint the exact site and nature of tendinopathy. This can guide clinicians in the management plan.