bluuebunny/crossref_metadata_2025_split huggingface dataset:
The transition to menopause for autistic individuals in the US: a qualitative study of health care challenges and support needs
Authors: Cusano Julia L. , Erwin Val , Miller Debra , Rothman Emily F. 
Published: February 2025

Abstract

Objective
The goal of the current study was to better understand autistic people's experiences with the menopause transition, by focusing on their symptoms, healthcare interactions, and receipt of informal support.

Methods
This was a qualitative research study. We conducted one-on-one videotelephone interviews with 21 autistic adults who had experienced, or were currently experiencing, perimenopause in the United States. Data were coded by two independent coders. We used a thematic analysis approach.

Results
The analysts derived several overarching themes related to perimenopausal symptoms, barriers to healthcare, and informal support networks. Participants reported increased sensory sensitivities during perimenopause and reported that these severely impacted their quality of life. These sensory sensitivities also compounded vasomotor symptoms of perimenopause causing an extreme and overwhelming confluence of symptoms and difficulties. Despite this, many participants felt that their healthcare providers supported them insufficiently. Participants felt unprepared for the intensification of sensory sensitivities during the menopause transition due to a lack of information about perimenopause from healthcare providers and because their social support network members lacked information about perimenopause.

Conclusions
Autistic people face unique challenges during the menopause transition, which may include managing sensory sensitivities and navigating healthcare systems. Results highlight the need for education about menopause earlier in life for autistic people. Findings further demonstrate the need for holistic approaches to perimenopausal symptom management and better training for providers on the unique needs of perimenopausal autistic people.
Cardiac phenotypes in LMNA mutations
Authors: Rouhi Leila 
Published: February 2025

Purpose of review
This review highlights the diverse cardiac manifestations of LMNA mutations, focusing on their underlying molecular mechanisms and clinical implications. As LMNA mutations are implicated in cardiomyopathies, such as dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ARVC), and conduction system diseases, understanding these phenotypes is critical for advancing diagnosis and management strategies.

Recent findings
Recent studies reveal that LMNA mutations disrupt nuclear envelope stability, activating the DNA damage response (DDR) and compromising chromatin organization and mechanotransduction. Mouse models have elucidated pathways linking LMNA dysfunction to fibrosis, arrhythmias, and myocardial remodeling. Emerging evidence demonstrates that fibroblasts play a crucial role in cardiac phenotypes. Advances in genetic screening have also underscored the importance of early identification and risk stratification, particularly for arrhythmias and sudden cardiac death.

Summary
The diverse spectrum of LMNA-related cardiac phenotypes, from isolated conduction defects to severe DCM and ARVC, underscores the necessity of personalized care strategies. Bridging insights from molecular studies and clinical research paves the way for targeted therapies to slow disease progression and improve patient outcomes. Future efforts should prioritize translational research on molecular mechanisms with potential in mouse models, alongside a deeper exploration of genotype–phenotype correlations, to refine and implement effective therapeutic interventions.
β-Catenin regulates distinct pathways from YAP and suppresses ONECUT1 to drive hepatoblastoma development in mice and humans
Authors: Liao Weiting , Zhang Yi , Wang Jingxiao , Cui Guofei , Evert Matthias , Xu Meng , Wu Yanhui , Wang Xue , Deng Shanshan , Song Xinhua , Monga Satdarshan P. , Zhao Jinqiu , Li Qiu , Calvisi Diego F. , Chen Xin 
Published: February 2025

Background & aims:
Hepatoblastoma (HB) is the predominant primary malignant liver tumor in childhood. Concomitant YAP and β-Catenin activation occurs in most HB. However, the signaling pathways distinctively regulated by YAP and β-Catenin protooncogenes in HB remain unexplored.

Approach and results:
We engineered an inducible HB murine model using hydrodynamic injection to deliver transposon plasmids encoding constitutive YAP and doxycycline (Dox)-inducible ΔN90-β-Catenin(YAP/TRE-β-Catenin). Gene expression patterns in mouse HB lesions upon short-term Dox withdrawal, i.e., tumors still existed, but ΔN90-β-Catenin was turned OFF, were analyzed. Mice rapidly developed aggressive HB lesions when fed doxycycline. However, upon Dox withdrawal, HB regressed, although tumors did not completely disappear over a long time. At the molecular level, YAP and β-Catenin were found to regulate distinct gene expression programs in HB. Specifically, YAP controls the Hippo and metabolism-related pathways, whereas β-Catenin modulates immune-related pathways contributing to immune exclusion in the tumor microenvironment. Furthermore, we identified the transcription factor ONECUT1 as a tumor suppressor gene downregulated by activated β-Catenin in HB. Low ONECUT1 expression also characterizes human HB, and co-expression of ONECUT1 strongly suppressed YAP/β-Catenin-driven HB formation in mice. Mechanistically, ONECUT1 functions downstream of activated β-Catenin and negatively regulates tumor cell glycolysis.

Conclusions:
We show that suppressing activated β-Catenin could hamper HB progression in vivo by affecting pathways distinct from those regulated by YAP in HB. Inhibition of ONECUT1 expression by β-Catenin might represent a critical molecular event leading to HB formation.
Assessing Quality of Vision in Cataract Surgery: A Randomized Trial of Digital vs. Paper-Based Questionnaires
Authors: Rein Adi Porat , Lundström Mats , Dickman Mor M. , Rosen Matan , Finkelman Yaron , Semionov Anastasia , Zadok David , Abulafia Adi 
Published: February 2025

Purpose:
To introduce a newly developed digital platform and compare its reliability and agreement with paper-based questionnaires for assessing quality of vision before and after cataract surgery.

Setting:
University-affiliated ophthalmology department and private clinic.

Design:
Prospective, randomized trial with parallel design of 1:1 allocation ratio without masking.

Methods:
Between 11/2021 and 6/2023, patients from a preoperative cataract clinic, aged ≥21 years, with cataracts in both eyes and internet access were randomly assigned by “ALEA” software to complete Catquest-9SF and Quality-of-Vision (QoV) questionnaires before surgery and after second eye surgery via paper or a newly developed digital European Registry of Quality Outcomes in Cataract and Refractive Surgery (EUREQUO) platform. Statistical analyses evaluated agreement between methods, and validation was by Rasch analysis.

Results:
Half (183/364, 50.3%) of the enrolled patients were allocated to digital questionnaires. After exclusion due to technical issues, missing questions, and withdrawal, 307/364 patients remained, of whom 159 (51.8%) filled in digital questionnaires. Half of all patients (n=154) underwent sequential surgeries on both eyes after a minimum one-month interval. Seventy-two (72/154, 46.8%) completed postoperative questionnaires. Comparative analysis found no significant differences between paper and digital methods. Catquest-9SF and QoV questionnaires demonstrated good precision and reliability (Rasch analysis). Postoperative vision improved at an average of 2.82 logits.

Conclusion:
The newly developed digital EUREQUO platform for patient assessment of quality of vision before and after cataract surgery with the Catquest-9SF and QoV questionnaires, offers a reliable alternative to traditional paper-based questionnaires, enhancing convenience for patients and providers.
Implications of portal vein/superior mesenteric vein involvement in pancreatic cancer: a comprehensive correlation from preoperative radiological assessment to resection, pathology, and long-term outcomes: a retrospective cohort study
Authors: Kim Hyeong Seok , Chae Hochang , Lim Soo Yeun , Jeong HyeJeong , Yoon So Jeong , Shin Sang Hyun , Han InWoong , Heo Jin Seok , Kim Hongbeom 
Published: February 2025

Background:
The incidence of portal vein/superior mesenteric vein (PV/SMV) resection during pancreatoduodenectomy is increasing in clinical practice. This study investigated the clinical significance of preoperative PV/SMV assessment and intraoperative resection and their correlation with pathological results and long-term survival outcomes.

Methods:
We analyzed 443 patients undergoing pancreatoduodenectomy at a tertiary center from 2012 to 2017 based on PV/SMV resection. Subgroup analyses were performed based on preoperative PV/SMV involvement, resection, and margin status.

Results:
Total of 441 patients were analyzed; 175 had PV/SMV involvement on preoperative radiological assessments and 128 underwent PV/SMV resection. True pathological invasion was observed in 78 patients (60.9%), with 34.3% showing no invasion and negative margins. The positive predictive value for preoperative PV/SMV involvement was 61.7%, with a false-negative value of 28.9%. Overall survival of patients who underwent PV/SMV resection was worse than those who did not (2-year survival rate, 38.1% vs 54.9%, P < 0.001). Patients without PV/SMV resection with an rR1/R1 margin showed no decrease in survival compared to those with PV/SMV resection and R0 margins (54.9% vs 40.3%, P = 0.029). Prognostic factors included hypertension, PV/SMV resection, PV/SMV R2 margin, T stage, N stage, cell differentiation, adjuvant treatment, and recurrence.

Conclusion:
PV/SMV resection could ensure R0 resection but may lead to unnecessary resection. Careful consideration is essential in determining the need for PV/SMV resection. Poor survival in such patients highlights the need for tailored treatments, including neoadjuvant therapy, for those who are expected to undergo PV/SMV resections.
Predictors of Short and Long-term Rebleeding in Patients With Overt Gastrointestinal Bleeding
Authors: Rizk Chantal , Kerbage Anthony , Tamim Hani , El Sheikh Walaa G. , Sharara Ala I. , Mourad Fadi , Shaib Yasser , Daniel Fady , Soweid Assaad , Rockey Don C. , Barada Kassem 
Published: February 2025

Background:
We aimed to identify predictors of rebleeding in patients with overt gastrointestinal bleeding (GIB) and to develop a rebleeding index.

Methods:
This was a prospective study of patients admitted with GIB from 2013 to 2023 at a tertiary care center. Rebleeding was defined as the recurrence of visible bleeding after initial stabilization, endoscopic evaluation, and/or hemostatic therapy, accompanied by a change in vital signs or a hemoglobin (Hgb) decrease of ≥2 g/dL. Independent predictors were determined after adjusting for confounders.

Results:
Seven hundred ninety-seven patients with GIB were recruited between 2013 and 2023 and were followed up until death or January 2023. In-hospital, 1-month, 1-year, and end of follow-up rebleeding rates were: 5.3%, 8.9%, 16.2%, and 21.8%, respectively. Sources of rebleeding were different from the original sources in 36% of patients. Predictors of 1-month rebleeding included need for ≥3 packed red blood cell (PRBC) units (HR=1.86; p=0.041), endoscopic stigmata of recent hemorrhage (SRH) (HR=1.99; p=0.007), and Hgb level (HR=0.82; p=0.018; lower Hgb predicts higher rebleeding risk). A rebleeding index based on SRH, Hgb level, and ≥3 PRBC units showed modest performance (AUC=0.68), with higher scores indicating increased rebleeding risk. At the end of follow-up, SRH remained a predictor (HR=1.61; p=0.003), whereas antiplatelets on admission or discharge appeared protective against rebleeding (HR=0.66; p=0.021; HR=0.63; p=0.026).

Conclusion:
Predictors of rebleeding after GIB were SRH, PRBC transfusion, and lowest Hgb. The novel index based on these predictors performed favorably compared with the GBS, Rockall systems for UGUB and ABC scores. These data will help guide management and risk stratification of patients with GIB.
Integration of Virtual Technology and Artificial Intelligence Improves Satisfaction, Patient Safety, and Nursing Workforce Efficiency
Authors: Tyransky Cassandra E. , Paulus Kasey , Langmead Erin , Miller David M. , Smith Carol R. , Hughes Fallon , Buchko Barbara L. , Saconi Bruno 
Published: February 2025

Background:
Virtual care technology including artificial intelligence (AI) may augment nursing functions creating flexibility in staffing that reduces workforce shortages and enhances patient safety.

Local problem:
A health system experienced nursing workforce shortages and patient safety concerns.

Methods:
Quality improvement methodology was used to evaluate the impact of implementing virtual care technology with AI.

Interventions:
Virtual patient observation (VPO) with AI and virtual nurse (VN) technology were implemented. Nursing assistants served as virtual observers, while registered nurses functioned as VNs, managing patient admissions, discharges, and education.

Results:
Unwitnessed in-room patient fall rates decreased 59% and median sitter hours were reduced by 91%. Patient experience and nurse perceptions of patient safety, workforce flexibility, and well-being improved. The program saved 63 hours per month of bedside nurse time.

Conclusions:
Nurse leader sponsorship of VPO with AI and VN to augment nursing functions offers a solution to improve patient safety and workforce flexibility.
Addressing Patient Learning Myopia in Multiple Sclerosis Through A Thermodynamic Approach
Authors: Cegarra-Sánchez Jorge , Cegarra-Navarro Juan-Gabriel , Martinez-Martinez Aurora 
Published: February 2025

Background:
Multiple sclerosis (MS) is a chronic and unpredictable condition requiring continuous learning and self-management. Since learning myopia involves a tendency to focus on immediate concerns at the expense of long-term goals, it can hinder disease management.

Problem:
Patients with MS often prioritize short-term symptom relief over proactive disease education and adherence to disease-modifying therapies. This focus on the immediate challenges complicates efforts to foster sustained learning, further compounded by widespread misinformation about MS management.

Approach:
This article applies a thermodynamic framework integrating rational, emotional, and spiritual capacities to overcome learning myopia.

Outcomes:
The article demonstrates how nurses can facilitate informed decision-making, resilience, and long-term adherence, mitigating the impacts of learning myopia.

Conclusions:
Addressing learning myopia through the thermodynamic approach empowers patients to manage MS effectively, improving quality of life.
Minnesota Public Health Corps: A Qualitative Assessment of AmeriCorps’ Members Experiences
Authors: Stabler Henry , Kirkland Chelsey , Frank Jaclyn , Price Rachel , Leider Jonathon 
Published: February 2025

Context:
Long-standing gaps in public health capacity exist due to extensive workforce shortages, particularly in governmental public health (GPH); these gaps were worsened during and after the COVID-19 pandemic. In response, the federal government established Public Health AmeriCorps (PHA), which supported the integration of AmeriCorps members in public health systems. Minnesota Public Health Corps (MNPHC) prioritized placing members in GPH agencies to increase GPH capacity. Initial evaluation results (2022-2023) suggest that program members were well-integrated into agencies. This article reports on the contextual information offered by MNPHC members throughout their service, including the specific programs and activities members implemented, to better explain how members were successful at extending agencies’ capacity.

Objectives:
Activities, challenges, and successes of members during their service are described to better explain how members were successful at extending their sites’ capacity.

Design:
Descriptive qualitative methods using data reported each month by 60 members.

Setting:
GPH agencies with at least one AmeriCorps member.

Participants:
MNPHC members and GPH agencies.

Intervention:
MNPHC members at GPH agencies across Minnesota who implemented service plans.

Main Outcome Measure:
Outcomes of interest included salient themes within MNPHC members’ (1) activities, (2) encountered challenges and barriers, (3) successes.

Results:
MNPHC members implemented public health activities that helped bolster the capacity at host sites. The most common activities were related to public health communications, community engagement, and data analysis. Reported successes were largely concerned with progress made on the different activities being implemented by members. Members also reported few challenges; however, most reported challenges related to common issues encountered in public health, such as difficulty working with community partners or finding available data.

Conclusions:
MNPHC offers a compelling model that provides support to the GPH workforce while also offering those considering a career in GPH an opportunity to experience a range of public health activities.
Using machine learning to predict poor adherence to antiretroviral therapy among adolescents living with HIV in low resource settings
Authors: Najjuuko Claire , Brathwaite Rachel , Xu Ziqi , Kizito Samuel , Lu Chenyang , Ssewamala Fred M 
Published: February 2025

Objectives:
Achieving optimal adherence to antiretroviral therapy (ART) and viral suppression is still insufficient for attaining the UNAIDS 95-95-95 target of 2030, especially among adolescents living with HIV (ALWHIV). This study sought to develop a model to predict poor adherence risk among ALWHIV and identify associated risk factors.

Design:
We utilized machine learning (ML) to predict future ART adherence among ALWHIV leveraging its ability to analyze complex, multidimensional data.

Methods:
We leveraged a dataset from a 6-year (2012-2018) longitudinal randomized control trial (RCT) with 635 ALWHIV in Uganda. We evaluated six ML models and retained one with the highest Area Under Receiver Operating Characteristic (AUROC), and Area Under Precision-Recall Curve (AUPRC). We further identified principal factors associated with ART adherence based on the best model.

Results:
The random forest model outperformed others, with mean AUROC: 0·71 (BC 95% CI: [0·69–0·72]) and AUPRC: 0·55 (BC 95% CI: [0·53–0·58]). The principal risk factors of poor adherence were poor adherence history; poverty; biological relationship to caregiver; self-concept; savings confidence; duration on ART; frequency discussing sensitive topics with caregivers; household size; economic group assignment; and school enrollment.

Conclusions:
Our findings support potential use of ML methods and socio-behavioral data for predicting poor ART adherence risk among ALWHIV. The predictive tool can help identify ALWHIV at the highest risk of treatment failure, and enable early targeted interventions. However, the tool is still preliminary and its accuracy could be improved by incorporating HIV phenotypic and clinical data.

Clinical Trial Number:
ClinicalTrials.gov ID:NCT01790373
Patient-Reported Outcome (PROMIS) Scores Improve After Gender-Affirming Mastectomy
Authors: Sweitzer Keith R. , Milek David , Escandón Joseph M. , Sanderson Derrick , Christiano Jose G. 
Published: February 2025

Background
Ad hoc and patient-reported outcome measures not specific to transgender surgery limit assessment of the impact of gender-affirming procedures. Patient-Reported Outcomes Measurement Information System (PROMIS) was developed as an objective and validated instrument to measure patient-related outcomes. In our study, we aimed to describe and analyze mean T-score changes in PROMIS before and after gender-affirming mastectomy.

Methods
A single-institution retrospective review of a prospectively maintained database was conducted on patients undergoing gender-affirming mastectomy (GAM) between October 2016 and July 2023. Along with demographic data, PROMIS T-scores for different health domains related to gender dysphoria were collected preoperatively and at postoperative months 1, 3, and 6. Tukey-Kramer adjustment statistical analysis and linear mixed-effect model were employed to accommodate both fixed and random effects from nonindependence in the data with adjusted P < 0.05 being considered statistically significant.

Results
A total of 185 patients were included. The average age was 23.7 years. Seven percent of patients were identified as nonbinary; 91% received preoperative hormonal therapy. Furthermore, 87.7% completed the survey on postoperative month 1 (POM1), 68.3% on POM3, and 47.5% on POM6. Baseline anxiety was found significantly worse (T-score, 60.4) compared to general US population. Satisfaction with social roles, anxiety, depression, social isolation, and anger demonstrated significantly improved T-scores after GAM on POM1, 3, and 6 compared to preoperative values.

Conclusions
Female-to-male transgender patients undergoing GAM demonstrated lasting improvements in satisfaction with social roles, anxiety, depression, social isolation, and anger over the period of 6 months postoperatively. PROMIS represents a relevant and useful tool to measure patient-reported outcomes in patients undergoing gender-affirming surgery.
Long-Term Outcome of Nasal Base Tripod in Patients With Unilateral Cleft
Authors: Saito Takafumi , Fukuyama Sotatsu , Tu Junior Chun-Yu , Lo Lun-Jou 
Published: February 2025

Background
Primary rhinoplasty is gaining popularity in cleft care. However, for a comprehensive reconstruction of 3-dimensional nasal morphology, an emphasis on lip muscle repair is essential to achieve nasal symmetry. Surgeons aiming to improve outcomes need to extend their understanding of the interrelationships among the alar bases, columellar base, and the underlying skeletal structure in primary condition and up to skeletal maturity.

Methods
This study analyzed imaging data from 192 skeletally matured patients, dividing them into unilateral complete, incomplete, and noncleft groups. Both cone-beam computed tomography and 3D photographs were utilized to investigate the 3-dimensional relationships among bilateral alare and subnasale, including underlying structures (soft-tissue thickness and skeletal asymmetry). Statistical comparisons were performed. Through stepwise multiple linear regression analysis, the study identified significant interrelationships among the nasal bases.

Results
The data revealed that despite the asymmetry in the underlying skeletal foundation, the current surgical methods have been successful in reconstructing the alar bases in a 3-dimensional aspect. However, columellar base deviation was observed when compared to the noncleft patients. The regression analysis revealed a notable correlation between the depression of the cleft-side alar base and columellar base deviation.

Conclusions
This study provides an insight for evaluating the cleft lip repair. Correcting the anteroposterior depression on cleft side alar base, in addition to adequate muscle reconstruction, could possibly reduce the columellar base deviation.