bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report
Authors: Ortmann Laura , Velasco Danita , Cole Jason 
Published: January 2025

Abstract

Background
Barth syndrome (BTHS) is a rare genetic disease, with no approved curative therapies, characterized by abnormally developed cardiolipin, resulting in mitochondrial dysfunction. Cardiomyopathy, a common clinical manifestation of BTHS, often appears in infancy. Elamipretide, an investigational drug that binds to cardiolipin on the inner mitochondrial membrane, leads to improved membrane stability, enhanced adenosine triphosphate production, and reduced reactive oxygen species. This patient case aims to further support elamipretide’s role in treating BTHS infants.

Case summary
We present an infant diagnosed in utero with BTHS who demonstrated a moderately dilated left ventricle (LV) with an LV ejection fraction (LVEF) of 20% at birth. He was transferred to a tertiary children’s hospital where he was intubated and administered medications for haemodynamic support. After several weeks, the patient was extubated and his LVEF improved, although still below normal. On day of life (DOL) 34, therapy with daily IV elamipretide (0.25 mg/kg increased to 0.5 mg/kg on DOL39) began, followed by standard-of-care oral heart failure medications. Subsequent echocardiograms demonstrated improvement of LVEF to near-normal levels. He was weaned off oxygen completely on DOL49 and discharged home on DOL61 on daily subcutaneous elamipretide 0.5 mg/kg and oral heart failure medications. His most recent echocardiogram showed improvement of LVEF to 60%.

Discussion
Our case suggests that elamipretide may have contributed to the improvement of LV function in this BTHS infant, supporting elamipretide’s early use in BTHS. Our findings align with the previous studies in which elamipretide treatment demonstrated normalization of mitochondrial function and improvement in LV function.
Fibroblast growth factor 5: a novel biomarker for familial hypercholesterolaemia
Authors: Baragetti Andrea , Alieva Asiiat S , Grigore Liliana , Pellegatta Fabio , Lupi Andrea , Scrimali Chiara , Cefalù Angelo B , Hutten Barbara A , Wiegman Albert , Knaapen Paul , Bom Michiel J , Nurmohamed Nick S , Reutova Olga , Konradi Alexandra , Shlyakhto Evgeny , Stroes Erik S G , Averna Maurizio , Catapano Alberico L 
Published: January 2025

Abstract

Background and Aims
Identification of individuals affected by familial hypercholesterolaemia (FH) is suboptimal when genetic tests are unavailable. Relying only on low-density lipoprotein cholesterol (LDL-C) is challenging as it may not allow distinguishing individuals with FH from hypercholesterolaemic (HC) individuals from the general population. The aim of this study was to determine whether biomarkers associated with cardiovascular disease and/or inflammation identify FH individuals and distinguish them from HC individuals.

Methods
A panel of 264 proteins in plasma was measured and machine learning was used to search for those that can distinguish FH individuals, either genetically proven (genFH) or clinically diagnosed (clinFH) from HC and control individuals.

Results
Both genFH and clinFH had elevated plasma levels of fibroblast growth factor 5 (FGF-5) compared with controls (mean area under the curve [AUC] &gt; .990 for both, P &lt; .001) or HC individuals (mean AUC &gt;.990, P &lt; .001), even after matching for LDL-C levels. An immunoenzymatic assay confirmed that FGF-5 was elevated in genFH and clinFH in all cohorts analysed.

Conclusions
This analysis suggests that FGF-5 could be a biomarker to discriminate individuals living with FH from HC individuals.
Developmental and conditional regulation of DAF-2/INSR ubiquitination in Caenorhabditis elegans
Authors: Falsztyn Ivan B , Taylor Seth M , Baugh L Ryan 
Published: January 2025

Abstract
Insulin/IGF signaling (IIS) regulates developmental and metabolic plasticity. Conditional regulation of insulin-like peptide expression and secretion promotes different phenotypes in different environments. However, IIS can also be regulated by other, less understood mechanisms. For example, stability of the only known insulin/IGF receptor in Caenorhabditis elegans, DAF-2/INSR, is regulated by CHIP-dependent ubiquitination. Disruption of chn-1/CHIP reduces longevity in C. elegans by increasing DAF-2/INSR abundance and IIS activity in adults. Likewise, mutation of a ubiquitination site causes daf-2(gk390525) to display gain-of-function phenotypes in adults. However, we show that this allele displays loss-of-function phenotypes in larvae and that its effect on IIS activity transitions from negative to positive during development. In contrast, the allele acts like a gain-of-function in larvae cultured at high temperature, inhibiting temperature-dependent dauer formation. Disruption of chn-1/CHIP causes an increase in IIS activity in starved L1 larvae, unlike daf-2(gk390525). CHN-1/CHIP ubiquitinates DAF-2/INSR at multiple sites. These results suggest that the sites that are functionally relevant to negative regulation of IIS vary in larvae and adults, at different temperatures, and in nutrient-dependent fashion, revealing additional layers of IIS regulation.
High-quality phenotypic and genotypic dataset of barley genebank core collection to unlock untapped genetic diversity
Authors: Yuan Zhihui , Rembe Maximilian , Mascher Martin , Stein Nils , Himmelbach Axel , Jayakodi Murukarthick , Börner Andreas , Oldach Klaus , Jahoor Ahmed , Jensen Jens Due , Rudloff Julia , Dohrendorf Viktoria-Elisabeth , Kuhfus Luisa Pauline , Dyrszka Emmanuelle , Conte Matthieu , Hinz Frederik , Trouchaud Salim , Reif Jochen C , El Hanafi Samira 
Published: January 2025

Abstract

Background
Genebanks around the globe serve as valuable repositories of genetic diversity, offering not only access to a broad spectrum of plant material but also critical resources for enhancing crop resilience, advancing scientific research, and supporting global food security. To this end, traditional genebanks are evolving into biodigital resource centers where the integration of phenotypic and genotypic data for accessions can drive more informed decision-making, optimize resource allocation, and unlock new opportunities for plant breeding and research. However, the curation and availability of interoperable phenotypic and genotypic data for genebank accessions is still in its infancy and represents an obstacle to rapid scientific discoveries in this field. Therefore, effectively promoting FAIR (i.e., findable, accessible, interoperable, and reusable) access to these data is vital for maximizing the potential of genebanks and driving progress in agricultural innovation.

Findings
Here we provide whole genome sequencing data of 812 barley (Hordeum vulgare L.) plant genetic resources and 298 European elite materials released between 1949 and 2021, as well as the phenotypic data for 4 disease resistance traits and 3 agronomic traits. The robustness of the investigated traits and the interoperability of genomic and phenotypic data were assessed in the current publication, aiming to make this panel publicly available as a resource for future genetic research in barley.

Conclusions
The data showed broad phenotypic variability and high association mapping potential, offering a key resource for identifying genebank donors with untapped genes to advance barley breeding while safeguarding genetic diversity.
How do community pharmacists perceive practice-based research?
Authors: Kummer Ingrid , Šepetavc Martina , Šolić Ivana , Jurišić Grubešić Renata 
Published: January 2025

Abstract

Objectives
Practice-based research (PBR) is an integral part of community pharmacy practice. The results obtained from PBR allow community pharmacists to gain the knowledge necessary to develop new patient services and acquire strategies to strengthen their role in the health system. The study aimed to assess pharmacists’ attitudes and barriers towards PBR and investigate the factors that prevent or motivate community pharmacists from participating.

Methods
The cross-sectional study was conducted in May to Jun 2023 via an online structured pretested questionnaire. All licensed pharmacists registered in the Registry of Pharmacists of the Croatian Pharmaceutical Chamber, who listed community pharmacy as a place of work participated, i.e. 500 community pharmacists. The questionnaire consisted of two sections. Section A collected the respondents’ sociodemographic characteristics. Section B contained two groups of relevant statements on a 5-point Likert scale divided into two sections: pharmacists’ attitudes towards research in PBRs and barriers to participation in PBRs.

Key findings
The results showed that 97% of community pharmacists considered PBR important for developing new pharmacy services, and almost two-thirds considered participation in research to be part of pharmacy practice. The most often perceived barrier to research participation was the workload of daily tasks necessary for normal pharmacy functioning, recognized by 68% of community pharmacists.

Conclusion
This study revealed community pharmacists’ perception of the importance of PBR for the pharmacy profession. Involvement in PBR was important for the community pharmacists. The motivation for the PBR was present, despite the detected barriers. The results indicate the directions the community pharmacists should inspire.
Population-Based Age-Period-Cohort Analysis of Declining Human Papillomavirus Prevalence
Authors: Gray Penelope , Wang Jiangrong , Nordqvist Kleppe Sara , Elfström K Miriam , Dillner Joakim 
Published: January 2025

Abstract

Background
Most countries in the world have launched human papillomavirus (HPV) vaccination programs, and declining HPV prevalences are reported. We aimed to disentangle the influences of calendar time, birth cohort, and age by analyzing HPV prevalences in the population-based cervical screening program using age-period-cohort modeling.

Methods
All 813 882 primary HPV-based cervical screening tests from women aged 23–64 years between 2014 and 2023 in the capital region of Sweden were identified in the Swedish National Cervical Screening Registry. The odds ratio (OR) of HPV-16/18 infection was estimated comparing birth cohorts to the unvaccinated 1984-born using an age-period-cohort model. The impact of changing HPV prevalences on the number needed to screen (NNS) to detect and prevent 1 cervical cancer case was calculated.

Results
HPV vaccination coverage was 82%–83% among women born in 1999–2000. Before 2019, the HPV-16/18 prevalence was highest among the youngest women. During 2020–2023 the prevalence consistently decreased among the birth cohorts offered organized school-based vaccination. There was a 98% decline in HPV-16 prevalence (OR, 0.02 [95% confidence interval {CI}, .01–.04]) and a 99% decline in HPV-18 prevalence (OR, 0.01 [95% CI, .00–.04]) among the 2000-born compared to the 1984-born. The declining HPV-16/18 prevalences resulted in major increases in the NNS to detect and to prevent 1 case of cervical cancer.

Conclusions
The declines of HPV-16/18 were considerably larger than the vaccination coverage, suggesting herd immunity. The changing epidemiology of HPV types impacts screening needs, necessitating updated screening programs.
Estimating the herd effects of antimicrobial prevention interventions on ventilator-associated pneumonia within ICU populations: a cluster randomized trial emulation using data from Cochrane reviews
Authors: Hurley James C 
Published: January 2025

Abstract

Background
The herd effects of antimicrobial interventions used to prevent ICU-acquired infections are unknown. The objective here was to estimate these herd effects within a single three-tiered cluster randomized trial (CRT) emulated using ventilator-associated pneumonia (VAP) data from randomized concurrent control trials (RCCTs) abstracted within Cochrane reviews.

Methods
Control and intervention group data derived from 13 Cochrane reviews of 72 RCCTs of antibiotic (Tier 3) and antiseptic (Tier 2) decontamination versus 109 RCCTs of various non-decontamination (Tier 1, serving as benchmark) VAP prevention interventions were arranged as a three-tiered CRT. The direct and indirect (herd) effects of Tiers 2 and 3 each versus Tier 1 interventions were obtained using estimators derived in meta-regression models.

Results
Benchmark (Tier 1) VAP incidences derived for control and intervention groups from non-decontamination RCCTs were 23.3 (95% CI: 20.6–26.1; n = 111) and 19.2 (95% CI: 16.8–21.8; n = 112), respectively. The mean VAP incidences for antibiotic and antiseptic decontamination control groups were 5% to 15% higher than the control group benchmark. The direct effects of antibiotic and antiseptic interventions versus Tier 1 benchmarks (ORs) were 0.77 (95% CI: 0.55–1.09) and 0.97 (95% CI: 0.71–1.33) whereas the indirect effects were 2.17 (95% CI: 1.56–3.03) and 1.38 (95% CI: 1.0–1.91), respectively.

Conclusions
Indirect (herd) effects from antimicrobial interventions, although inapparent within individual RCCTs, are strong. These effects on control group VAP incidences, which spuriously conflate the appearance of benefit, constitute herd peril.
Towards human-AI collaboration in radiology: a multidimensional evaluation of the acceptability of AI for chest radiograph analysis in supporting pulmonary tuberculosis diagnosis
Authors: Hua David , Petrina Neysa , Sacks Alan J , Young Noel , Cho Jin-Gun , Smith Ross , Poon Simon K 
Published: January 2025

Abstract

Objective
Artificial intelligence (AI) technology promises to be a powerful tool in addressing the global health challenges posed by tuberculosis (TB). However, evidence for its real-world impact is lacking, which may hinder safe, responsible adoption. This case study addresses this gap by assessing the technical performance, usability and workflow aspects, and health impact of implementing a commercial AI system (qXR by Qure.ai) to support Australian radiologists in diagnosing pulmonary TB.

Materials and Methods
A retrospective diagnostic accuracy evaluation was conducted to establish the technical performance of qXR in detecting TB compared to a human radiologist and microbiological reference standard. A qualitative human factors assessment was performed to investigate the user experience and clinical decision-making process of radiologists using qXR. A task productivity analysis was completed to quantify how the radiological screening turnaround time is impacted.

Results
qXR displays near-human performance satisfying the World Health Organization’s suggested accuracy profile. Radiologists reported high satisfaction with using qXR based on minimal workflow disruptions, respect for their professional autonomy, and limited increases in workload burden despite poor algorithm explainability. qXR delivers considerable productivity gains for normal cases and optimizes resource allocation through redistributing time from normal to abnormal cases.

Discussion and Conclusion
This study provides preliminary evidence of how an AI system with reasonable diagnostic accuracy and a human-centered user experience can meaningfully augment the TB diagnostic workflow. Future research needs to investigate the impact of AI on clinician accuracy, its relationship with efficiency, and best practices for optimizing the impact of clinician-AI collaboration.
Fashioning Authenticity: How Digital Product Passports could shape the future of trade mark law
Authors: Gösken Christophe 
Published: January 2025

Abstract
In the evolving landscape of the fashion industry, the interplay between emerging regulatory frameworks, such as the Digital Product Passport (DPP) Regulation, trademarks and narratives about authenticity, is critical in shaping consumer purchasing decisions. This article investigates how marketing, legal and technology might shape consumer behaviour in the future and highlights what legal issues might arise. Through a literature review, an analysis of the current DPP framework, the examination of recent market initiatives, and a case study, this article suggests that DPPs could reduce the importance of trademarks in the marketplace. Indeed, by providing consumers with verifiable digital reference points tied to authenticity narratives, DPPs would lessen the importance of trademarks for reducing consumers’ search costs, thus challenging its economic foundations. Findings underscore the growing influence of technology on consumer choices, the need for trade mark experts to reassess their roles in crafting brand narratives, and the growing need to redefine the foundations of trade mark law. Ultimately, this article aims to provide actionable insights for recalibrating trade mark protections to foster a more innovative fashion industry.
Reviving diversity: cryoprotectants and culturing methods enhance recovery of mammalian gut microbes from field samples
Authors: Peralta Martínez Karen Y , Goyco-Blas José , Reilly Sarah M , Ahn Young , Hedayati Stefanie , Kohl Kevin D 
Published: January 2025

Abstract
The field of microbial ecology is increasingly recognizing the need for methods to isolate and culture gut microbes to better understand how these microorganisms impact animal physiology, especially in mammalian hosts. Currently, there is a lack of clear methods to store microbial samples for cultivability, especially when samples are collected from the field, transported to the laboratory, and preserved under long-term storage for weeks to months compared to mere days in the biomedical field. Here, the cecal contents of groundhogs (Marmota monax) were processed and stored with or without various preservation solutions at −80 °C for at least 2 months. All microbial samples were then grown in distinct nutrient media in liquid and plate conditions and were incubated under anaerobic and aerobic environments. Treatment comparisons revealed that the samples stored in preservation solutions containing 1 or more cryoprotectants provided the greatest and most consistent bacterial densities. To test the long-term storage efficacy of the preservation solutions, we inventoried taxonomic identities and abundances of these cultures using 16S rRNA amplicon sequencing. Our findings highlight that: (1) preserved samples containing cryoprotectants exhibited the highest microbial richness and diversity and resembled the original cecal samples the most when grown under anaerobic conditions; and (2) the effect of individual animal identity was detectable in the membership of cultured communities, irrespective of preservation solutions. Our study is the first to demonstrate the importance of preservation solutions containing multiple cryoprotectants for long-term storage and further microbial culturing and novel isolation. Understanding and improving storage methods that preserve microbial physiology and conserve their compositional diversity is essential for field-collected samples useful in mammalian microbiome and culturomics studies, promoting a better comprehension of the identity and function of wild host-associated microbiomes.
Bleeding pseudoaneurysms in postoperative upper gastrointestinal surgery patients: a single -center experience
Authors: Sah Raju , Rawal Sushil Bahadur , Malla Srijan , Rayamajhi Jyoti , Bhat Pawan Singh 
Published: January 2025

Abstract
Visceral artery pseudoaneurysms are rare but life-threatening complications following upper gastrointestinal (GI) surgery. This case series reviews six patients (male-to-female ratio 3:3) who developed pseudoaneurysms, presenting with diverse clinical manifestations. Four patients (66.6%) experienced bleeding, including hemoperitoneum and upper GI bleeding, with one also reporting nausea and vomiting. Two patients (33.3%) developed anastomotic site leakage, leading to hemoperitoneum in one and bile-induced intra-abdominal infection in the other. The pseudoaneurysms involved the proper hepatic artery (n = 3), common hepatic artery (n = 2), right hepatic artery (n = 1), jejunal artery (n = 1), and splenic artery (n = 1). All patients underwent interventional radiology procedures, with angioembolization performed in each case. Recurrent bleeding required re-embolization in three cases: two from previously treated sites and one from a new pseudoaneurysm. Bleeding occurred between the 5th and 27th postoperative days, and one patient succumbed. Early diagnosis and timely endovascular management are critical for improved outcomes in these patients.
The impact of classical bulges on stellar bars and boxy–peanut–X features in disc galaxies
Authors: McClure Rachel Lee , Beane Angus , D’Onghia Elena , Filion Carrie , Daniel Kathryne J 
Published: January 2025

ABSTRACT
Galactic bars and their associated resonances play a significant role in shaping galaxy evolution. Resulting resonance-driven structures, like the vertically extended boxy–peanut–X (BPX) feature, then serve as a useful probe of the host galaxy’s history. In this study, we quantify the impact of a classical bulge on the evolution of the bar and the growth of bar-resonance structures. This is accomplished with a suite of isolated N-body disc galaxy simulations with bulge mass fractions ranging from 0 per cent to 16 per cent of the disc mass. We apply frequency analysis to the stellar orbits to analyse the variations in resonance structure evolution. Our findings indicate that a more massive initial bulge leads to the formation of a stronger and more extended bar and that each bar drives the formation of a prominent associated BPX through resonance passage. In this work, we present evidence that the formation of a BPX is driven by planar, bar-supporting orbits evolving through interaction with horizontal and vertical bar resonances. More orbits become vertically extended when these resonances intersect, and the rate of the orbits passing through resonance is moderated by the overall fraction of vertically extended orbits. A significant bulge stabilizes the fraction of vertically extended orbits, preventing sudden resonance-induced changes. Crucially, neither sudden resonance intersection nor prolonged resonance trapping is required for BPX formation.
I Zw 1 and H0557-385: the dusty tori of two high Eddington AGNs observed in the MATISSE LM bands
Authors: Drewes Farin , Leftley James H , Hönig Sebastian F , Tristram Konrad R W , Kishimoto Makoto 
Published: January 2025

ABSTRACT
The torus in active galactic nuclei (AGNs) is a complex dynamical structure of gas and dust. It is thought to be composed of an equatorial dusty disc and a polar dusty wind launched by radiation pressure. However, this picture is based on studies of moderately accreting AGN. Models suggest that the disc/wind structure will change with specific accretion rate. Here we examine the wind launching region in two high accretion rate objects, I Zw 1 (super-Eddington) and H0557-385 (high-Eddington), using high spatial resolution interferometric observations in the K-band from VLTI/GRAVITY and $LM$ bands from VLTI/MATISSE. We recover wavelength-dependent sizes of the dust emission using a Gaussian and power-law fit to the visibilities. Both objects are partially resolved and have radial sizes in the $KLM$ bands between 0.3 and 1.5 mas, with no signs of elongation. Combining our measurements with VLTI/MIDI N-band data gives a full multiwavelength picture of the dust structure. We find that in H0557-385, the dust sizes between 3.5 and 8 $\mu\rm m$ are independent of the wavelength, roughly constant at $3-10$ sublimation radii. We argue that this indicates a direct view of the wind launching region and, together with an absence of polar elongation, this implies that any wind would be launched in a preferentially equatorial direction or blown out by strong radiation pressure. The size–wavelength relation for both objects shows a preferentially discy equatorial dust distribution. We conclude that there is strong evidence that the Eddington ratio shapes the inner dust structure, most notably the wind-launching region and wind direction.