bluuebunny/crossref_metadata_2025_split huggingface dataset:
Shared decision-making between patients and healthcare providers at rural health facilities in Eastern Uganda: an exploratory qualitative study
Authors: Owino Ranga Solomon , Kituuka Olivia , Kutyabami Paul , Sewankambo Nelson K. 
Published: January 2025

Abstract

Background
Shared decision-making in healthcare is a collaborative process where patients are supported to make informed decisions according to their preferences. Healthcare decisions affect patients' lives which necessitates patients to participate in decisions concerning their health. This study explored experiences and ethical issues related to shared decision-making in a rural healthcare setting.

Methods
An exploratory qualitative study was conducted at Budumba Health Centre III and Butaleja Health Centre III in rural Eastern Uganda. In this study, 23 in-depth interviews were conducted among 12 healthcare providers and 11 patients. Data was analyzed thematically using NVivo-12 plus software.

Results
Four themes emerged which included: Paternalistic cultures of care, challenges, strategies for improvement, and ethical issues. Patients at both facilities expressed the need to be involved in decision-making processes. However, many stressed that they are not engaged in decision-making about their health. Many healthcare providers noted that shared decision-making could improve patient prognosis but are faced with challenges related to low male involvement and the influence of cultural and religious practices, including myths and patriarchal attitudes which impact effective patient engagement.
Ethical issues identified include concerns about informed consent, privacy and confidentiality, deception, and harm.

Conclusions
This study highlighted the need for better sensitization of patients and comprehensive training for healthcare providers to minimize and resolve ethical issues that emerge during shared decision-making processes. Therefore, targeted interventions are needed to enhance decision-making processes in rural healthcare including but not limited to developing shared decision-making manual and continuous training of healthcare providers to ethically engage patients. Further research is needed to explore larger facilities with a bigger scope including patients under 18 years of age and and their surrogates.
Why should we strive to let them thrive? Exploring the links between homecare professionals thriving at work, employee ambidexterity, and innovative behavior
Authors: Slåtten Terje , Mutonyi Barbara Rebecca , Lien Gudbrand 
Published: January 2025

Abstract

Background
The concept of thriving at work (TAW) has received increased interest within health services research in recent years. TAW embraces employees’ experience of being energized and feeling alive when employed in an organization. However, previous research has been limited mainly to the investigation of factors that promote TAW. Consequently, there is a lack of research linking TAW to potential outcomes. Based on this knowledge gap, this study aimed to examine links between TAW and two potential outcomes: employees’ individual innovative behavior (IIB) and employee ambidexterity (EA). Thus, the study contributes to a relatively neglected area, homecare, within the domain of health services research.

Methods
In this cross-sectional study, N = 258 Norwegian homecare professionals in nine municipalities were selected through convenience sampling. The conceptual model's results were analyzed using partial least-squares structural equation modeling with SmartPLS 3 software. The study tested both direct and indirect relationships. Indirect relationships were achieved through bootstrap.

Results
The main results from the empirical study can be summarized as follows: (i) TAW was found to be positively linked to both EA (b = 0.46) and IIB (b = 0.22); (ii) TAW and EA explained about 30% (R2 = 0.29) the variance in IIB; (iii) The relationship between TAW and IIB was found to be mediated by the EA; (iv) TAW was positively linked to each of the two dimensions that constitute EA. However, when comparing the individual strength of linkages, TAW was found to be most strongly linked to the exploitation dimension of EA (b = 0.50) and less strongly linked to the exploration dimension of EA (b = 0.35).

Conclusions
Employees’ level of TAW in homecare services is linked to desirable outcomes, as represented by EA and IIB in this study. Managers should be aware of the development and changes in their employees' TAW levels. Consequently, continuously monitoring and cultivating the TAW of individual employees to determine whether they experience a sense of being energized and feeling alive as members of the organization is an important practical implication. TAW is a key to essential outcomes. Managers should, therefore, strive to let all of their employees thrive.
Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester
Authors: Li Huanyun , Li Shaojun , Zhao Zhenhua , Kong Lingrong , Fu Xinyu , Zhu Jingqi , Feng Jun , Tang Weiqin , Wu Di , Kong Xiangdong 
Published: January 2025

Abstract

Background
Noninvasive prenatal diagnosis (NIPD) has been proven feasible for non-syndromic hearing loss (NSHL) in singleton pregnancies. However, previous research is limited to the second trimester and the application in twin pregnancies is blank. Here we provide a novel algorithmic approach to assess singleton and twin pregnancies in the first trimester.

Methods
A 324.614 kb capture panel was designed to selectively enrich target regions. Parental haplotypes were constructed by target sequencing of blood samples from the parents and the proband. Then single nucleotide polymorphisms (SNP) within target regions were classified into four and six categories in singleton and twin pregnancy, respectively. Combining relative haplotype dosage change (RHDO) and the Bayes factor (BF), fetal fraction (FF) and fetal genotype were deduced in singleton and twin pregnancies. The pregnant women’s NIPD results were validated by invasive prenatal diagnosis and Sanger sequencing.

Results
Sixteen women with singleton pregnancies and one woman with a twin pregnancy were recruited. Among the 16 singleton pregnancies, NIPD was successfully applied in 15 families and the coincidence rate with invasive prenatal diagnosis was 100% (15/15). Only one family NIPD result is “no call” because the imbalance distribution of SNP sites makes it difficult to estimate recombination events. Most (13/15) of pregnant women were diagnosed in the first trimester and the earliest gestation week was the 7th week. The twin pregnancy was a dichorionic diamniotic twin (DCDA). NIPD confirmed one fetus is affected, and another is a carrier with c.299_300delAT of GJB2 gene.

Conclusion
This study represents the pioneering evidence in the field, demonstrating the feasibility of NIPD for NSHL in twin pregnancies. Moreover, it provides a novel and advanced diagnostic approach for families at high risk of NSHL during pregnancy, offering earlier detection, enhanced safety, and improved accuracy.
First evidence of the effectiveness of a field application of RNAi technology in reducing infestation of the mite Varroa destructor in the western honey bee (Apis mellifera)
Authors: Bortolin Francesca , Rigato Emanuele , Perandin Sergio , Granato Anna , Zulian Laura , Millino Caterina , Pacchioni Beniamina , Mutinelli Franco , Fusco Giuseppe 
Published: January 2025

Abstract

Background
The mite Varroa destructor is the most serious pest of the western honey bee (Apis mellifera) and a major factor in the global decline of colonies. Traditional control methods, such as chemical pesticides, although quick and temporarily effective, leave residues in hive products, harming bees and operators’ health, while promoting pathogen resistance and spread. As a sustainable alternative, RNA interference (RNAi) technology has shown great potential for honey bee pest control in laboratory assays, but evidence of effectiveness in the field has been lacking.

Methods
We investigated the efficacy and feasibility of a RNAi treatment to improve bee health under natural beekeeping conditions by integrating a honey bee diet with a mixture of dsRNA targeting V. destructor acetyl-CoA carboxylase, Na+/K+ ATPase and endochitinase genes.

Results
In treated hives, we observed that the average infestation rate of phoretic Varroa mite was reduced by 33% and 42% relative to control bees fed with sucrose and GFP-dsRNA, respectively. The dsRNA treatment did not affect bee survival, and the beekeepers involved in the project found the method manageable in the apiary and non-intrusive to production activities.

Conclusions
Our findings demonstrate the feasibility and effectiveness of RNAi technology in reducing Varroa mite infestations under natural rearing conditions. This study supports the potential of RNAi as a promising alternative to chemical pesticides, offering a targeted, efficient and sustainable solution for managing V. destructor in honey bee populations.

Graphical Abstract
RADAR-AD: assessment of multiple remote monitoring technologies for early detection of Alzheimer’s disease
Authors: Lentzen Manuel , Vairavan Srinivasan , Muurling Marijn , Alepopoulos Vasilis , Atreya Alankar , Boada Merce , de Boer Casper , Conde Pauline , Curcic Jelena , Frisoni Giovanni , Galluzzi Samantha , Gjestsen Martha Therese , Gkioka Mara , Grammatikopoulou Margarita , Hausner Lucrezia , Hinds Chris , Lazarou Ioulietta , de Mendonça Alexandre , Nikolopoulos Spiros , Religa Dorota , Scebba Gaetano , Jelle Visser Pieter , Wittenberg Gayle , Narayan Vaibhav A. , Coello Neva , Brem Anna-Katharine , Aarsland Dag , Fröhlich Holger ,   on behalf of RADAR-AD
Published: January 2025

Abstract

Background
Alzheimer’s disease (AD) is a progressive neurodegenerative disorder affecting millions worldwide, leading to cognitive and functional decline. Early detection and intervention are crucial for enhancing the quality of life of patients and their families. Remote Monitoring Technologies (RMTs) offer a promising solution for early detection by tracking changes in behavioral and cognitive functions, such as memory, language, and problem-solving skills. Timely detection of these symptoms can facilitate early intervention, potentially slowing disease progression and enabling appropriate treatment and care.

Methods
The RADAR-AD study was designed to evaluate the accuracy and validity of multiple RMTs in detecting functional decline across various stages of AD in a real-world setting, compared to standard clinical rating scales. Our approach involved a univariate analysis using Analysis of Covariance (ANCOVA) to analyze individual features of six RMTs while adjusting for variables such as age, sex, years of education, clinical site, BMI and season. Additionally, we employed four machine learning classifiers – Logistic Regression, Decision Tree, Random Forest, and XGBoost – using a nested cross-validation approach to assess the discriminatory capabilities of the RMTs.

Results
The ANCOVA results indicated significant differences between healthy and AD subjects regarding reduced physical activity, less REM sleep, altered gait patterns, and decreased cognitive functioning. The machine-learning-based analysis demonstrated that RMT-based models could identify subjects in the prodromal stage with an Area Under the ROC Curve of 73.0 %. In addition, our findings show that the Amsterdam iADL questionnaire has high discriminatory abilities.

Conclusions
RMTs show promise in AD detection already in the prodromal stage. Using them could allow for earlier detection and intervention, thereby improving patients’ quality of life. Furthermore, the Amsterdam iADL questionnaire holds high potential when employed remotely.
Evaluating the Impact Performance of Environmentally Friendly Asphalt Concrete Slabs Containing Different Proportions of Recycled Concrete Aggregate and Corrugated Steel Fibers
Authors: Mansour Walid , Ashraf Diaa , Basha Ali 
Published: January 2025

Abstract
The current research focuses on recycling construction waste by producing asphalt concrete mixtures containing varying proportions of recycled concrete aggregate (RCA), ranging from 0 to 50%. To ensure the improvement of the asphalt mixtures' properties in terms of Marshall stability, flow, bulk density, air void ratio, and splitting tensile strength, steel fibers were added at a volume fraction of 1.0%. The experimental program consisted of 12 asphalt cylinders with a diameter of 102 mm and a height of 64 mm, cast with different asphalt mixtures to study the effects of varying RCA proportions as well as the addition of steel fibers on the mechanical properties of the asphalt concrete mixtures. The stability of the asphalt mixtures decreased by 17.6%, 23.2%, and 28.8% when RCA was used at ratios of 30%, 40%, and 50%, respectively, compared to the reference mixture. The Marshall stability of asphalt mixtures containing steel fibers was higher than that of their counterparts without fibers. Moreover, 12 asphalt slabs were cast with different ratios of RCA in preparation for testing under the impact load resulting from the free fall of a 10-kg steel mass from a height of 2 m. The results revealed that the ratio between the back and front crater diameters for slabs containing 10%, 20%, 30%, 40%, and 50% RCA after incorporating steel fibers was 1.15, 1.17, 1.15, 1.28, and 1.36, respectively. These ratios were smaller than those of the counterpart slabs without steel fibers by 18%, 19%, 19%, 7%, and 18%, respectively. Moreover, due to the low accuracy of existing mathematical models for predicting the penetration depth of asphalt slabs made with RCA, this research presents a developed mathematical model capable of accurately predicting the penetration depth of such slabs. This model considers both the ratio of RCA and the steel fibers within the asphalt mixtures.
The quest for environmental analytical microbiology: absolute quantitative microbiome using cellular internal standards
Authors: Wang Chunxiao , Yang Yu , Xu Xiaoqing , Wang Dou , Shi Xianghui , Liu Lei , Deng Yu , Li Liguan , Zhang Tong 
Published: January 2025

Abstract

Background
High-throughput sequencing has revolutionized environmental microbiome research, providing both quantitative and qualitative insights into nucleic acid targets in the environment. The resulting microbial composition (community structure) data are essential for environmental analytical microbiology, enabling characterization of community dynamics and assessing microbial pollutants for the development of intervention strategies. However, the relative abundances derived from sequencing impede comparisons across samples and studies.

Results
This review systematically summarizes various absolute quantification (AQ) methods and their applications to obtain the absolute abundance of microbial cells and genetic elements. By critically comparing the strengths and limitations of AQ methods, we advocate the use of cellular internal standard-based high-throughput sequencing as an appropriate AQ approach for studying environmental microbiome originated from samples of complex matrices and high heterogeneity. To minimize ambiguity and facilitate cross-study comparisons, we outline essential reporting elements for technical considerations, and provide a checklist as a reference for environmental microbiome research.

Conclusions
In summary, we propose absolute microbiome quantification using cellular internal standards for environmental analytical microbiology, and we anticipate that this approach will greatly benefit future studies.

Graphical Abstract
Botensilimab (Fc-enhanced anti–cytotoxic lymphocyte-association protein-4 antibody) Plus Balstilimab (anti–PD-1 antibody) in Patients With Relapsed/Refractory Metastatic Sarcomas
Authors: Wilky Breelyn A. , Schwartz Gary K. , Gordon Michael S. , El-Khoueiry Anthony B. , Bullock Andrea J. , Henick Brian , Agulnik Mark , Singh Arun , Mahadevan Daruka , Stebbing Justin , Delepine Chloe , Chand Dhan , Avagyan Manushak , Wu Wei , Johnson Benny , Grossman Joseph E. , O'Day Steven , Trent Jonathan C. , Jones Robin L. , Tsimberidou Apostolia M. 
Published: January 2025

PURPOSE
Outcomes for patients with advanced sarcomas are poor and there is a high unmet need to develop novel therapies. The purpose of this phase I study was to define the safety and efficacy of botensilimab (BOT), an Fc-enhanced anti–cytotoxic lymphocyte-association protein-4 antibody, plus balstilimab (BAL), an anti–PD-1 antibody, in advanced sarcomas.

METHODS
BOT was administered intravenously (IV) at 1 mg/kg or 2 mg/kg once every 6 weeks in combination with BAL IV at 3 mg/kg once every 2 weeks for up to 2 years. The primary end point was to determine dose-limiting toxicities during the dose-escalation period. Secondary end points include objective response rate (ORR), duration of response (DOR), disease control rate, and progression-free survival (PFS) by RECIST 1.1. Exploratory end points include assessing patient biomarkers including tumor mutational burden, cytokines, and PD-L1 expression.

RESULTS
Overall, 64 patients with sarcoma were treated; all were evaluable for safety and 52 for efficacy. The most common treatment-related adverse event (TRAE) was diarrhea/colitis occurring in 35.9% of patients, with grade 3 in 6.3% of patients. No grade 4 or 5 TRAEs were reported. For all evaluable patients, ORR was 19.2% (95% CI, 9.6 to 32.5), and 27.8% (95% CI, 9.7 to 53.5) for evaluable patients with angiosarcoma (n = 18); 33.3% in visceral and 22.2% in cutaneous subtypes. Median PFS for evaluable patients was 4.4 months (95% CI, 2.8 to 6.1), with a 6-month PFS rate of 36% (95% CI, 22 to 50) and a median DOR of 21.7 months (95% CI, 1.9 to not reached).

CONCLUSION

The combination of BOT/BAL demonstrated promising efficacy and safety in a large cohort of heavily pretreated sarcoma patients. This encouraging activity warrants further investigation (ClinicalTrials.gov identifier:
NCT03860272
).
Clinical Activity of Mitogen-Activated Protein Kinase Inhibitors in Patients With MAP2K1 (MEK1)-Mutated Metastatic Cancers
Authors: Dankner Matthew , Rousselle Emmanuelle , Petrecca Sarah , Fabi François , Nowakowski Alexander , Lazaratos Anna-Maria , Rajadurai Charles Vincent , Stein Andrew J.B. , Bian David , Tai Peter , Belaiche Alicia , Li Meredith , Quaiattini Andrea , Normanno Nicola , Arcila Maria , Elkrief Arielle , Johnson Douglas B. , Ladanyi Marc , Rose April A.N. 
Published: January 2025

PURPOSE
MAP2K1/MEK1 mutations are potentially actionable drivers in cancer. MAP2K1 mutations have been functionally classified into three groups according to their dependency on upstream RAS/RAF signaling. However, the clinical efficacy of mitogen-activated protein kinase (MAPK) pathway inhibitors (MAPKi) for MAP2K1-mutant tumors is not well defined. We sought to characterize the genomic and clinical landscape of MAP2K1 mutant tumors to evaluate the relationship between MAP2K1 mutation class and clinical activity of MAPKi.

METHODS
We interrogated American Association for Cancer Research (AACR) GENIE (v13) to analyze solid tumors with MAP2K1 mutations. We performed a systematic review and meta-analysis of published reports of patients with MAP2K1-mutant cancers treated with MAPKi according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The primary end point was progression-free survival (PFS), and secondary end points were overall treatment response rate (ORR), duration of response (DOR), and overall survival.

RESULTS

In the AACR GENIE data set, class 2 MAP2K1 mutations (63%) were more prevalent than class 1 (24%) and class 3 (13%) mutations (
P
< .0001). Co-occurring MAPK pathway-activating mutations were more likely to occur in class 1 versus class 2 or 3 MAP2K1-mutant tumors (
P
< .0001). Our systematic meta-analysis of the literature identified 46 patients with MAP2K1-mutant tumors who received MAPKi. In these patients, ORR was 28% and median PFS was 3.9 months. ORR did not differ according to MAP2K1 mutation class or cancer type. However, patients with class 2 mutations experienced longer PFS (5.0 months) and DOR (23.8 months) compared with patients with class 1, 3, or unclassified MAP2K1 mutations (PFS 3.5 months,
P
= .04; DOR 4.2 months,
P
= .02).

CONCLUSION
Patients with class 2 MAP2K1 mutations represent a novel subgroup that may derive benefit from MAPKi. Prospective clinical studies with novel MAPKi regimens are warranted in these patients.
Long lived quasinormal modes of regular and extreme black holes
Authors: Skvortsova Milena 
Published: January 2025

Abstract
Recently, black hole models in a nonlinear modification of the Maxwell electrodynamics were suggested, possessing simultaneously properties of an extreme charge and regularity \cite{Bronnikov:2024izh}. We study quasinormal modes of a massive scalar field around such black holes and show that they are characterized by a comparatively small damping rate, indicating the possible existence of arbitrarily long-lived quasinormal modes, called {\it quasi-resonances}.
O-07 RAPIDLY PROGRESSIVE LATE-ONSET X-LINKED ADRENOLEUKODYSTROPHY WITH A NOVEL MUTATION
Authors: Sodan Hulya Nur , Kaya Refika Yorulmaz , Hatipoglu Mustafa , Batur Caglayan Hale Zeynep , Ezgu Fatih Suheyl , Okur Ilyas , Inci Asli , Yegin Zeynep Arzu , Cerit Ethem Turgay , Altinova Alev Eroglu , Toruner Fusun , Karakoc Ayhan , Akturk Mujde , Yalcin Mehmet Muhittin 
Published: January 2025

Abstract

Introduction
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder resulting from a congenital defect in the ABCD1 gene, which encodes the adrenoleukodystrophy protein (ALDP). Deficiency of ALDP leads to impaired peroxisomal β-oxidation of very long chain fatty acids (VLCFAs), causing their accumulation in the nervous system, testes, and adrenal cortex.

Clinical Case
A 20-year-old male patient was referred to the neurology clinic with a progressive speech disorder, impaired coordination while eating, incoherent speech, prolonged periods of dissociation, and cognitive disability for 6 months. Also clumsiness, unintentional falls, and involuntary arm movements were observed. In fact, when a more detailed history was obtained from the family, they mentioned that the patient had shown signs of clumsiness over the past three years. The patient was born healthy with no underlying health conditions, had an average academic record, and no history of illicit drug use. His neurologic examination did not reveal motor deficits, and the patient was attentive and oriented to person, place, time and situation. However, spasticity was observed in both lower extremities, and it was noted that the patient exhibited difficulty in following commands and doing some movements. His brain MRI revealed bilateral frontoparietal white matter patterns consistent with X-ALD. After that he was referred to our clinic. Adrenal insufficiency was detected, and he was started on hydrocortisone therapy. Elevated very long-chain fatty acid levels were also found. Genetic testing revealed a novel mutation (NM_000033.4 c.778dup p.(Ala260GlyfsTer41) in the ABCD1 gene, which was also detected in the patient’s female sibling. Subsequently, he developed gait disturbances, paraparesis, and sphincter dysfunction. The patient exhibited rapid progression and is currently bedridden, being fed through a percutaneous enteral gastrostomy (PEG) in a three months. According to the evaluation of the patient, it was determined that he was not suitable for gene therapy or stem cell transplant due to the high Loes score (19), rapid progression, and his age.

Conclusion
X-ALD is a rare disease with significant morbidity and a high mortality rate. Typically, affected boys present between four and eight years of age. Our case involves late-onset and rapid progression with a novel mutation.