bluuebunny/crossref_metadata_2025_split huggingface dataset:
Influence of a Large Language Model on Diagnostic Reasoning: A Randomized Clinical Vignette Study
Authors: Goh Ethan , Gallo Robert , Hom Jason , Strong Eric , Weng Yingjie , Kerman Hannah , Cool Josephine , Kanjee Zahir , Parsons Andrew S. , Ahuja Neera , Horvitz Eric , Yang Daniel , Milstein Arnold , Olson Andrew P.J , Rodman Adam , Chen Jonathan H 
Published: March 2024

ABSTRACTImportanceDiagnostic errors are common and cause significant morbidity. Large language models (LLMs) have shown promise in their performance on both multiple-choice and open-ended medical reasoning examinations, but it remains unknown whether the use of such tools improves diagnostic reasoning.ObjectiveTo assess the impact of the GPT-4 LLM on physicians’ diagnostic reasoning compared to conventional resources.DesignMulti-center, randomized clinical vignette study.SettingThe study was conducted using remote video conferencing with physicians across the country and in-person participation across multiple academic medical institutions.ParticipantsResident and attending physicians with training in family medicine, internal medicine, or emergency medicine.Intervention(s)Participants were randomized to access GPT-4 in addition to conventional diagnostic resources or to just conventional resources. They were allocated 60 minutes to review up to six clinical vignettes adapted from established diagnostic reasoning exams.Main Outcome(s) and Measure(s)The primary outcome was diagnostic performance based on differential diagnosis accuracy, appropriateness of supporting and opposing factors, and next diagnostic evaluation steps. Secondary outcomes included time spent per case and final diagnosis.Results50 physicians (26 attendings, 24 residents) participated, with an average of 5.2 cases completed per participant. The median diagnostic reasoning score per case was 76.3 percent (IQR 65.8 to 86.8) for the GPT-4 group and 73.7 percent (IQR 63.2 to 84.2) for the conventional resources group, with an adjusted difference of 1.6 percentage points (95% CI -4.4 to 7.6; p=0.60). The median time spent on cases for the GPT-4 group was 519 seconds (IQR 371 to 668 seconds), compared to 565 seconds (IQR 456 to 788 seconds) for the conventional resources group, with a time difference of -82 seconds (95% CI -195 to 31; p=0.20). GPT-4 alone scored 15.5 percentage points (95% CI 1.5 to 29, p=0.03) higher than the conventional resources group.Conclusions and RelevanceIn a clinical vignette-based study, the availability of GPT-4 to physicians as a diagnostic aid did not significantly improve clinical reasoning compared to conventional resources, although it may improve components of clinical reasoning such as efficiency. GPT-4 alone demonstrated higher performance than both physician groups, suggesting opportunities for further improvement in physician-AI collaboration in clinical practice.
Advanced ECG heart age estimation applicable to both sinus and non-sinus rhythm associates with cardiovascular risk, cardiovascular morbidity, and survival
Authors: Al-Falahi Zaidon , Schlegel Todd T , Lamela-Palencia Israel , Li Annie , Schelbert Erik B , Niklasson Louise , Maanja Maren , Lindow Thomas , Ugander Martin 
Published: March 2024

BackgroundAn explainable advanced electrocardiography (A-ECG) heart age gap is the difference between A-ECG heart age and chronological age. This gap is an estimate of accelerated cardiovascular ageing expressed in years of healthy human aging, and can intuitively communicate cardiovascular risk to the general population. However, existing A-ECG heart age measures require discernible P waves on the ECG.AimsTo develop and prognostically validate a revised, explainable A-ECG heart age gap without incorporating P-wave measures.MethodsAn A-ECG heart age without P-wave measures (non-P) was derived from the 10-second 12-lead ECG in a derivation cohort using multivariable regression using an existing Bayesian 5-minute 12-lead A-ECG heart age as reference. The non-P heart age was externally validated in a separate cohort of patients referred for cardiovascular magnetic resonance imaging by describing its association with heart failure hospitalization or death using Cox regression, and its association with comorbidities.ResultsIn the derivation cohort (n=2771), A-ECG non-P heart age agreed with the 5-min heart age (R2=0.91, bias 0.0±6.7 years), and increased with increasing co-morbidity. In the validation cohort (n=731, mean age 54±15 years, 43% female, n=139 events over 5.7 [4.8–6.7] years follow-up), increased A-ECG non-P heart age gap (≥10 years) associated with events (hazard ratio [95% confidence interval] 2.04 [1.38–3.00], C-statistic 0.58 [0.54–0.62], and the presence of hypertension, diabetes mellitus, hypercholesterolemia, and heart failure (p≤0.009 for all).ConclusionsAn explainable A-ECG non-P heart age gap applicable to both sinus and non-sinus rhythm associates with cardiovascular risk, cardiovascular morbidity, and survival.
Predictive Modeling to Uncover Parkinson’s Disease Characteristics That Delay Diagnosis
Authors: Hähnel Tom , Raschka Tamara , Klucken Jochen , Glaab Enrico , Corvol Jean-Christophe , Falkenburger Björn H. , Fröhlich Holger 
Published: March 2024

AbstractBackgroundPeople with Parkinson’s disease (PwPD) present with a variety of motor and non-motor symptoms, and a more biological definition of PD is poised to expand the diagnostic spectrum beyond the stereotypical “elderly male with tremor”. This heterogeneity can potentially pose a challenge for an accurate and early diagnosis.ObjectivesTo determine whether demographic or clinical characteristics systematically affect the time till diagnosis, by modeling large-scale longitudinal data.MethodsUsing longitudinal data from three large PD cohorts and a latent time joint mixed-effects model (LTJMM), we aligned the disease courses of individual PwPD and estimated whether individual PD diagnosis was early or late compared to the average time of PD diagnosis in each cohort. Initial clinical manifestations at the typical time of PD diagnosis were estimated using mixed-effects models.ResultsWe included 1,124 PwPD in our analysis. Several clinical and demographic factors were associated with a later-than-average diagnosis of PD: higher age, tremor dominance, rapid progression, anxiety, autonomic symptoms, depression, fatigue, pain, sleep problems, and in general more non-motor symptoms. In contrast, postural and gait disturbance was associated with an earlier-than-average PD diagnosis. Sex, family history of PD and predominantly affected side did not impact the time of PD diagnosis.ConclusionsUsing statistical modeling, we were able to study initial clinical characteristics of PwPD even in the absence of directly observable clinical data at the time when PD is diagnosed typically. Our findings are consistent with a biological definition of PD that includes patients who present initially with non-motor symptoms.
Detection and quantification of human immunodeficiency virus-1 (HIV-1) total nucleic acids in wastewater settled solids from two California communities
Authors: Wolfe Marlene K. , Shelden Bridgette , Duong Dorothea , Varkila Meri R.J. , White Bradley J. , Parsonnet Julie , Boehm Alexandria B. 
Published: March 2024

AbstractWastewater surveillance for infectious agents has proved useful in identifying circulation of viruses within populations. We investigated the presence and concentration of human immunodeficiency virus (HIV)-1 total nucleic acids (including both viral RNA and proviral DNA) in wastewater solids. We retrospectively measured HIV-1 nucleic-acids in two samples per week for 26 months at two wastewater treatment plants serving populations with different prevalences of HIV infections in San Francisco and Santa Clara County, California, USA. We detected HIV nucleic-acids in a majority of samples with concentrations ranging from non-detect to 3.9×105cp/g (N=459 samples total). Concentrations of HIV-1 were significantly higher in samples from the wastewater treatment plant serving a population with a higher prevalence of people living with HIV than in the plant serving a population with lower prevalence. The HIV-1 nucleic-acids amplified were primarily DNA and thus represented proviral DNA shedding into wastewater. Additionally, we found that HIV-1 nucleic-acid concentrations in wastewater solids were orders of magnitude higher than those in liquid wastewater indicating that the HIV-1 target preferentially sorbs to solids. Whether concentrations of HIV-1 in wastewater solids can be used to identify numbers of incident cases remains unknown. Additional work on HIV-1 shedding from individuals with viremia and people living with HIV is needed to translate wastewater measurements to quantitative information on infections.
Aligning visual prosthetic development with implantee needs
Authors: Nadolskis Lucas G. , Turkstra Lily M. , Larnyo Ebenezer , Beyeler Michael 
Published: March 2024

AbstractPurposeVisual prosthetics are a promising assistive technology for vision loss, yet research often overlooks the human aspects of this technology. While previous studies focus on the perceptual experiences or attitudes of implant recipients (implantees),a systematic account of how current implants are being used in everyday life is still lacking.MethodsWe interviewed six recipients of the most widely used visual implants (Argus II and Orion) and six leading researchers in the field. Through thematic analyses, we explored the daily usage of these implants by implantees and compared their responses to the expectations of researchers. We also sought implantees’ input on desired features for future versions, aiming to inform the development of the next generation of implants.ResultsAlthough implants are designed to facilitate various daily activities, we found that implantees use them less frequently than researchers expect. This discrepancy primarily stems from issues with usability and reliability, with implantees finding alternative methods to accomplish tasks, reducing the need to rely on the implant. For future implants, implantees emphasized the desire for improved vision, smart integration, and increased independence.ConclusionsOur study reveals a significant gap between researcher expectations and implantee experiences with visual prostheses. Although limited by access to a small population of implantees, this study highlights the importance of focusing future research on usability and real-world applications.Translational relevanceThis retrospective qualitative study advocates for a better alignment between technology development and implantee needs to enhance clinical relevance and practical utility of visual prosthetics.
ExploringWNT2Polymorphisms in Comitant Strabismus: A Genetic Association Study
Authors: Zehra Zainab , von Bartheld Christopher S. , Agarwal Andrea B. , Vasquez-Gross Hans , Siddiqui Sorath Noorani , Azam Maleeha , Qamar Raheel 
Published: March 2024

AbstractBackgroundStrabismus is a complex oculomotor condition characterized by a misalignment of the visual axis. The genetics of strabismus are poorly defined although a few candidate genes have been identified, among which is the WNT2 gene. Our study was designed to assess the association of single nucleotide polymorphisms (SNPs) ofWNT2in Pakistani strabismus patients.MethodsA total of six SNPs, three intronic and three in the 3’ untranslated region, were screened in the current study. Logistic regression was performed using a dominant, recessive and additive model to determine the association of SNPs with strabismus and its clinical subtypes: esotropia and exotropia. Furthermore, haplotype analysis was performed.ResultsRegression analysis revealed an association of rs2896218, rs3779550, rs2285544 and rs4730775 with strabismus under the dominant model. When analyzed separately, rs2896218 and rs2285544 were found to be associated with both esotropia and exotropia, while rs4730775 was significantly associated only with exotropia under the dominant model. Based on clinical parameters, rs2896218, rs2285544 and rs4730775 were also found to be associated with the group of strabismus patients who were diagnosed at birth, but not in the group of patients who were diagnosed later in life. Haplotype analysis revealed that the haplotype A T T (corresponding to rs2896218, rs3779550 and rs2285544) was significantly more prevalent in the strabismus group.ConclusionOverall, the results of the present study suggests an association ofWNT2polymorphisms with strabismus and its subtypes in the Pakistani population, though further studies are needed to elucidate their role in strabismus etiology.What is already known on this topicStrabismus is a common oculomotor condition with a genetic component.WNT2has been identified as a candidate gene for comitant strabismus.What this study addsTwoWNT2polymorphisms not previously reported have been found to be associated with strabismus.There are genetic variations between clinical subtypes of strabismus (esotropia and exotropia).WNT2polymorphisms are associated with age at the time of diagnosis and family history.Combinations of different alleles (haplotypes) are associated with the disease.How this study might affect research, practice or policyOur study adds to the limited genetic data for strabismus and suggests further studies on the role ofWNT2in strabismus causation.
Potential associations of selected polymorphic genetic variants with COVID-19 disease susceptibility and severity
Authors: Mózner Orsolya , Szabó Edit , Kulin Anna , Várady György , Moldvay Judit , Vass Vivien , Szentesi Andrea , Jánosi Ágoston , Hegyi Péter , Sarkadi Balázs 
Published: March 2024

AbstractIn this study, we analyzed the potential associations of selected laboratory and anamnestic parameters, as well as 12 genetic polymorphisms (SNPs), with clinical COVID-19 occurrence and severity in 869 hospitalized patients. The SNPs analyzed by qPCR were selected based on population-wide genetic (GWAS) data previously indicating association with the severity of COVID-19. We confirmed the associations of disease with several clinical laboratory and anamnestic parameters and found an unexpected association between less severe disease and the loss of smell and taste. In most cases, selected SNP analysis supported earlier results by indicating genetic associations with hospitalization and disease severity, while the potential role of some previously unrecognized polymorphisms has also been observed. A genetic association was indicated between the presence of a reduced-function ABCG2 transporter variant and a less severe disease, which was also observed in diabetic patients. Our current results, which should be reinforced by larger studies, indicate that together with laboratory and anamnestic parameters, genetic polymorphisms may have predictive value for the clinical occurrence and severity of COVID-19.
Ant queens cannibalise infected brood to contain disease spread and recycle nutrients
Authors: Bizzell Flynn , Pull Christopher D. 
Published: March 2024

AbstractFilial cannibalism, where parents eat their own offspring, is a taxonomically widespread behaviour with a multitude of potential adaptive explanations. Of these, the impact of parasites on the expression of filial cannibalism is particularly poorly understood. On one hand, cannibalising young with low survival probability may enable parents to reinvest valuable resources into future reproduction; on the other, cannibalising offspring harbouring parasites that can potentially also infect the parents may select against this behaviour. Although disease-induced cannibalism of eggs has been reported in fish, the benefits of consuming infected brood to contain infections – as an explanation for the evolution of filial cannibalism – remains largely unexplored. Here, we demonstrate that solitarily founding ant queens cannibalise all sick larvae in their nests before they become contagious, showing clearly that filial cannibalism both (i) contains an otherwise lethal infection without any long-term consequences on queen survival and (ii) enables the reinvestment of recouped energy into additional egg production.
Sulfite oxidase deficiency causes persulfidation loss and H2S release
Authors: Fu Chun-Yu , Kohl Joshua B. , Liebsch Filip , D’Andrea Davide , Mai Max , Mellis Anna T. , Kouroussis Emilia , Ditrói Tamás , Santamaria-Araujo José Angel , Yeo Sin Yuin , Endepols Heike , Křížková Michaela , Kozich Viktor , Barayeu Uladzimir , Akaike Takaaki , Hennermann Julia B. , Nagy Peter , Filipovic Milos , Schwarz Guenter 
Published: March 2024

AbstractSulfite oxidase (SOX) deficiency is a rare inborn error of cysteine metabolism resulting in severe neurological damage. In patients, sulfite accumulates to toxic levels causing a raise in downstream productsS-sulfocysteine (SSC), mediating excitotoxicity, and thiosulfate, a catabolic intermediate/product of H2S metabolism. Here, we report a full-body knock-out mouse model for SOX deficiency (SOXD) with a severely impaired phenotype. Amongst the urinary biomarkers, thiosulfate showed a 45-fold accumulation in SOXD mice representing the major excreted S-metabolite. Consistently, we found increased plasma H2S, which was derived from sulfite-induced release from persulfides as demonstratedin vitroandin vivo. Mass spectrometric analysis of total protein persulfidome identified a major loss of persulfidation in 20% of the proteome affecting enzymes in amino acids and fatty acid metabolism. Urinary amino acid profiles indicate metabolic rewiring suggesting partial reversal of the TCA cycle thus identifying a novel contribution of H2S metabolism and persulfidation in SOXD.
PrgE: an OB-fold protein from plasmid pCF10 with striking differences to prototypical bacterial SSBs
Authors: Breidenstein Annika , Lamy Anaïs , Bader Cyrielle P. J. , Sun Wei-Sheng , Wanrooij Paulina H. , Berntsson Ronnie P-A 
Published: March 2024

AbstractA major pathway for horizontal gene transfer is the transmission of DNA from donor to recipient cells via plasmid-encoded Type 4 Secretion Systems (T4SS). Many conjugative plasmids encode for a single-stranded DNA-binding protein (SSB) together with their T4SS. Some of these SSBs have been suggested to aid in establishing the plasmid in the recipient cell, but for many their function remains unclear. Here, we characterize PrgE, a proposed SSB fromEnterococcus faecalisplasmid pCF10. We show that PrgE is not essential for conjugation. Structurally, it has the characteristic OB-fold of SSBs, but it has very uncharacteristic DNA-binding properties. Our DNA-bound structure shows that PrgE binds ssDNA like beads on a string, and this plasticity of PrgEs oligomerization is further confirmed byin vitrostudies. Unlike other SSBs, PrgE binds both double- and single-stranded DNA equally well. This shows that PrgE has a quaternary assembly and DNA-binding properties that are very different from the prototypical bacterial SSB, but also different from the eukaryotic SSBs.
A review based knowledge organization supported research framework for digital storytelling from travel records
Authors: Ghosh Shiv Shakti , Chatterjee Sunil Kumar 
Published: March 2024

Purpose
This study presents a review based research framework that aims to influence memory institutions in their projects on digital storytelling from digitized ancient travel records. This study aims to influence research and policymaking related to design and delivery of services based on memory institutions’ collections of historical records.

Design/methodology/approach
The demonstrated research framework has been synthesized using inputs from a review of existing studies on the domain accompanied by a short survey created for collecting the opinion of selected experts. Studies demonstrating utilization of semantic web technologies and those that can influence policymaking related to digital storytelling were primarily reviewed.

Findings
The core tasks behind digital storytelling vary depending on the project goals. So, a two-part framework had to be proposed that covers the generic fundamental tasks with diverse applicability and digital storytelling related specific tasks separately. Also during the review, it was found that studies demonstrating the use of travel records for digital storytelling were less in number compared to studies using digital storytelling for tourism in general.

Originality/value
The demonstrated research framework can guide memory institutions in exposing their travel-related holdings to a wider audience using innovative semantic web technologies and open up avenues for future empirical research thereby adding to the novelty of the presented research. Also, reviews of articles on digital storytelling or digital humanities in general exist, but, review of digital storytelling initiatives focusing specifically on tourism and travel literature is scarce.
Cruise market investigation and price optimization: what do consumers want?
Authors: Pan Tianyu , Fu Rachel J.C. , Petrick James F. 
Published: March 2024

PurposeThis study aims to examine consumer perception during COVID-19 and identifies cruise industry marketing strategies to fill a gap in crisis management and product pricing literature.Design/methodology/approachThis study developed and validated two-factor measurement scales (vaccine perception and protective behavior), which predicted cruise intents well. This study revealed how geo-regional factors affect consumer psychology through spatial analysis.FindingsThis study recommended pricing 7-day cruises at $1,464 (the most preferred length). The results also showed that future price hikes would not affect demand and that coastal marketing would help retain customers.Originality/valueThis study contributed to the business, hospitality and tourism literature by identifying two new and unique factors (vaccine perception and protective behaviors), which were found to affect consumers’ intention to travel by cruise significantly. The result provided a better understanding of cruise tourists’ pricing preferences and the methods utilized could easily be applied to other cruise markets or tourism entities.