bluuebunny/crossref_metadata_2025_split huggingface dataset:
MicroRNA expression profiling of urine exosomes in children with congenital cytomegalovirus infection
Authors: Torii Yuka , Suzuki Takako , Fukuda Yuto , Haruta Kazunori , Yamaguchi Makoto , Horiba Kazuhiro , Kawada Jun-ichi , Ito Yoshinori 
Published: March 2024

AbstractCongenital cytomegalovirus (cCMV) infection can damage the central nervous system in infants; however, its prognosis cannot be predicted from clinical evaluations at the time of birth. Urinary exosomes can be used to analyze neuronal damage in neuronal diseases. To investigate the extent of neuronal damage in patients with cCMV, exosomal miRNA expression in the urine was investigated in cCMV-infected infants and controls. Microarray analysis of miRNA was performed in a cohort of 30 infants, including 11 symptomatic cCMV (ScCMV), 7 asymptomatic cCMV (AScCMV), and one late-onset ScCMV cases, and 11 healthy controls (HC). Hierarchical clustering analysis revealed the distinct expression profile of ScCMV. The patient with late-onset ScCMV was grouped into the ScCMV cluster. Pathway enrichment analysis of the target mRNAs differed significantly between the ScCMV and HC groups; this analysis also revealed that pathways related to brain development were linked to upregulated pathways. Six miRNAs that significantly different between groups (ScCMV vs. HC and ScCMV vs. AScCMV) were selected for digital PCR in another cohort for further validation. Although these six miRNAs seemed insufficient for predicting ScCMV, expression profiles of urine exosomal miRNAs can reveal neurological damage in patients with ScCMV compared to those with AcCMV or healthy infants.
Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey
Authors: Britten-Jones Alexis Ceecee , Schultz Joshua , Mack Heather G. , Kearns Lisa S. , Huq Aamira J. , Ruddle Jonathan B. , Mackey David A. , Hewitt Alex W. , Edwards Thomas L. , Ayton Lauren N. 
Published: March 2024

AbstractThis study evaluated patient experiences with genetic testing for inherited retinal diseases (IRDs) and the association between underlying knowledge, testing outcomes, and the perceived value of the results. An online survey was distributed to adults with IRDs and parents/guardians of dependents with IRDs who had had genetic testing. Data included details of genetic testing, pre- and post- test perceptions, Decision Regret Scale, perceived value of results, and knowledge of gene therapy. Of 135 responses (85% from adults with IRDs), genetic testing was primarily conducted at no charge through public hospitals (49%) or in a research setting (30%). Key motivations for genetic testing were to confirm IRD diagnosis and to contribute towards research. Those who had received a genetic diagnosis (odds ratio: 6.71; p < 0.001) and those self-reported to have good knowledge of gene therapy (odds ratio: 2.69; p = 0.018) were more likely to have gained confidence in managing their clinical care. For over 80% of respondents, knowing the causative gene empowered them to learn more about their IRD and explore opportunities regarding clinical trials. Key genetic counselling information needs include resources for family communications, structured information provision, and ongoing genetic support, particularly in the context of emerging ocular therapies, to enhance consistency in information uptake.
Clinical significance of signal shadowing during intraoperative optical coherence tomography-assisted vitreoretinal surgery
Authors: Carlos Reyna Erick , Öztek Melisa , Petrovski Goran , Binder Susanne , Stieger Knut , Lytvynchuk Lyubomyr 
Published: March 2024

AbstractThis study aimed to analyze the clinical significance of signal shadowing during intraoperative optical coherence tomography (iOCT)-assisted vitreoretinal surgery caused by vitreoretinal instruments, tissue dyes, and vitreous substitutes, and to objectively quantify its impact on iOCT imaging. This is a retrospective observational study of postoperative image analysis from one hundred seventeen (117) patients who underwent iOCT-assisted vitrectomy. The image data were divided into three groups: vitreoretinal instruments, tissue dyes, and vitreous substitutes. The data was then processed using graphic software to measure the grade of picture quality distortion and compared to paired image controls without clinically perceptive interference, then analyzed statistically. The intraocular portion of all studied vitreoretinal instruments caused a high average gray level interference compared to controls ranging from 32 to 68% reduction, obscuring the area of interest significantly. The tips of the instruments produced low-grade shadowing, allowing the underlying tissue to be distinguished. The analyzed dyes demonstrated a wide interference range: ICG (− 75.12%), and triamcinolone (− 26.13%) showed dose-dependent high shadowing, while VITREODYNE™ (49.3%) and brilliant blue G (14.06%) exhibited no perceived distortions whilst increasing average gray levels. All analyzed vitreous substitutes (air, SF6, C3F8, PFCL, and silicone oil) showed an insignificant shadowing effect on iOCT. Certain dyes and vitreous substitutes produce a negligible shadowing effect compared to controls and other dyes, providing an advantage during real-time iOCT imaging. All analyzed vitreoretinal instruments showed a significant interference that should prompt the development of new imaging techniques or the implementation of materials with low-grade interference to overcome a clinically relevant shadowing effect on iOCT, maximizing the technology’s visual accuracy and surgical diagnostic aid proficiency.
Differential functional organization of amygdala-medial prefrontal cortex networks in macaque and human
Authors: Giacometti Camille , Autran-Clavagnier Delphine , Dureux Audrey , Viñales Laura , Lamberton Franck , Procyk Emmanuel , Wilson Charles R. E. , Amiez Céline , Hadj-Bouziane Fadila 
Published: March 2024

AbstractOver the course of evolution, the amygdala (AMG) and medial frontal cortex (mPFC) network, involved in behavioral adaptation, underwent structural changes in the old-world monkey and human lineages. Yet, whether and how the functional organization of this network differs remains poorly understood. Using resting-state functional magnetic resonance imagery, we show that the functional connectivity (FC) between AMG nuclei and mPFC regions differs between humans and awake macaques. In humans, the AMG-mPFC FC displays U-shaped pattern along the corpus callosum: a positive FC with the ventromedial prefrontal (vmPFC) and anterior cingulate cortex (ACC), a negative FC with the anterior mid-cingulate cortex (MCC), and a positive FC with the posterior MCC. Conversely, in macaques, the negative FC shifted more ventrally at the junction between the vmPFC and the ACC. The functional organization divergence of AMG-mPFC network between humans and macaques might help understanding behavioral adaptation abilities differences in their respective socio-ecological niches.
Hippocampal subfield plasticity is associated with improved spatial memory
Authors: Boecker Henning , Daamen Marcel , Kunz Lukas , Geiß Melanie , Müller Moritz , Neuss Thomas , Henschel Leonie , Stirnberg Rüdiger , Upadhyay Neeraj , Scheef Lukas , Martin Jason A. , Stöcker Tony , Radbruch Alexander , Attenberger Ulrike , Axmacher Nikolai , Maurer Angelika 
Published: March 2024

AbstractPhysical exercise studies are generally underrepresented in young adulthood. Seventeen subjects were randomized into an intervention group (24.2 ± 3.9 years; 3 trainings/week) and 10 subjects into a passive control group (23.7 ± 4.2 years), over a duration of 6 months. Every two months, performance diagnostics, computerized spatial memory tests, and 3 Tesla magnetic resonance imaging were conducted. Here we find that the intervention group, compared to controls, showed increased cardiorespiratory fitness, spatial memory performance and subregional hippocampal volumes over time. Time-by-condition interactions occurred in right cornu ammonis 4 body and (trend only) dentate gyrus, left hippocampal tail and left subiculum. Increases in spatial memory performance correlated with hippocampal body volume changes and, subregionally, with left subicular volume changes. In conclusion, findings support earlier reports of exercise-induced subregional hippocampal volume changes. Such exercise-related plasticity may not only be of interest for young adults with clinical disorders of hippocampal function, but also for sedentary normal cohorts.
EVATOM: an optical, label-free, machine learning assisted embryo health assessment tool
Authors: Goswami Neha , Winston Nicola , Choi Wonho , Lai Nastasia Z. E. , Arcanjo Rachel B. , Chen Xi , Sobh Nahil , Nowak Romana A. , Anastasio Mark A. , Popescu Gabriel 
Published: March 2024

AbstractThe combination of a good quality embryo and proper maternal health factors promise higher chances of a successful in vitro fertilization (IVF) procedure leading to clinical pregnancy and live birth. Of these two factors, selection of a good embryo is a controllable aspect. The current gold standard in clinical practice is visual assessment of an embryo based on its morphological appearance by trained embryologists. More recently, machine learning has been incorporated into embryo selection “packages”. Here, we report EVATOM: a machine-learning assisted embryo health assessment tool utilizing an optical quantitative phase imaging technique called artificial confocal microscopy (ACM). We present a label-free nucleus detection method with, to the best of our knowledge, novel quantitative embryo health biomarkers. Two viability assessment models are presented for grading embryos into two classes: healthy/intermediate (H/I) or sick (S) class. The models achieve a weighted F1 score of 1.0 and 0.99 respectively on the in-distribution test set of 72 fixed embryos and a weighted F1 score of 0.9 and 0.95 respectively on the out-of-distribution test dataset of 19 time-instances from 8 live embryos.
Revealing mitf functions and visualizing allografted tumor metastasis in colorless and immunodeficient Xenopus tropicalis
Authors: Ran Rensen , Li Lanxin , Xu Tingting , Huang Jixuan , He Huanhuan , Chen Yonglong 
Published: March 2024

AbstractTransparent immunodeficient animal models not only enhance in vivo imaging investigations of visceral organ development but also facilitate in vivo tracking of transplanted tumor cells. However, at present, transparent and immunodeficient animal models are confined to zebrafish, presenting substantial challenges for real-time, in vivo imaging studies addressing specific biological inquiries. Here, we employed a mitf−/−/prkdc−/−/il2rg−/− triple-knockout strategy to establish a colorless and immunodeficient amphibian model of Xenopus tropicalis. By disrupting the mitf gene, we observed the loss of melanophores, xanthophores, and granular glands in Xenopus tropicalis. Through the endogenous mitf promoter to drive BRAFV600E expression, we confirmed mitf expression in melanophores, xanthophores and granular glands. Moreover, the reconstruction of the disrupted site effectively reinstated melanophores, xanthophores, and granular glands, further highlighting the crucial role of mitf as a regulator in their development. By crossing mitf−/− frogs with prkdc−/−/il2rg−/− frogs, we generated a mitf−/−/prkdc−/−/il2rg−/−Xenopus tropicalis line, providing a colorless and immunodeficient amphibian model. Utilizing this model, we successfully observed intravital metastases of allotransplanted xanthophoromas and migrations of allotransplanted melanomas. Overall, colorless and immunodeficient Xenopus tropicalis holds great promise as a valuable platform for tumorous and developmental biology research.
Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy
Authors: Matis Thibaut , Domecq Celine , Hamel Nancy , Castellsagué Ester , Lopez-Doriga Adriana , Marotta Stephen , Zauber Peter , Foulkes William D. 
Published: March 2024

Abstract
Background
Colorectal neoplasia is one of the most common tumors affecting Western populations.

Methods
In this study we used a custom amplicon sequencing platform and an in-house bioinformatic pipeline to study constitutional DNA from two different case series of Ashkenazi Jews undergoing colonoscopy (n = 765). The first series all had pathologically confirmed colorectal adenomas and/or carcinoma. The second series consisted of persons who had undergone a colonoscopy within the five years prior to ascertainment, regardless of findings. Ninety-one percent of all patients were asymptomatic at the time of colonoscopy.

Results
In the first group (n = 438), we identified 65 founder variants (56 in APC, 2 in GREM1, 3 in MSH2 and 4 in BLM). In the second group (n = 327), the findings were 30, nothing, 1 and 1, respectively, as well as 2 MSH6 variants.

Conclusions
Overall, we found that 10 to 15% of Ashkenazi Jewish persons undergoing colonoscopy harbor variants of interest in colorectal and/or polyposis predisposition. This includes pathogenic variants in MSH6, which is associated with colorectal cancer but not with polyposis. We identified no pathogenic variants in more recently discovered polyposis predisposition genes (POLE, POLD1 or NTHL1), rendering the presence of such founder variants rare.
TeV pion bumps in the gamma-ray spectra of flaring blazars
Authors: Petropoulou M. , Mastichiadis A. , Vasilopoulos G. , Paneque D. , Becerra González J. , Zanias F. 
Published: March 2024

Context.Very high-energy (VHE,E > 100 GeV) observations of the blazar Mrk 501 with MAGIC in 2014 provided evidence for an unusual narrow spectral feature at about 3 TeV during an extreme X-ray flaring activity. The one-zone synchrotron-self Compton scenario, widely used in blazar broadband spectral modeling, fails to explain the narrow TeV component.Aims.Motivated by this rare observation, we propose an alternative model for the production of narrow features in the VHE spectra of flaring blazars. These spectral features may result from the decay of neutral pions (π0bumps) that are in turn produced via interactions of protons (of tens of TeV energy) with energetic photons, whose density increases during hard X-ray flares.Methods.We explored the conditions needed for the emergence of narrowπ0bumps in VHE blazar spectra during X-ray flares reaching synchrotron energies ∼100 keV using time-dependent radiative transfer calculations. We focused on high-synchrotron peaked (HSP) blazars, which comprise the majority of VHE-detected extragalactic sources.Results.We find that synchrotron-dominated flares with peak energies ≳100 keV can be ideal periods for the search ofπ0bumps in the VHE spectra of HSP blazars. The flaring region is optically thin to photopion production, its energy content is dominated by the relativistic proton population, and the inferred jet power is highly super-Eddington. Application of the model to the spectral energy distribution of Mrk 501 on MJD 56857.98 shows that the VHE spectrum of the flare is described well by the sum of a synchrotron self-Compton (SSC) component and a distinctπ0bump centered at 3 TeV. Spectral fitting of simulated SSC+π0spectra for the Cherenkov Telescope Array (CTA) show that aπ0bump could be detected at a 5σsignificance level with a 30-min exposure.Conclusions.A harder VHEγ-ray spectrum than the usual SSC prediction or, more occasionally, a distinct narrow bump at VHE energies during hard X-ray flares, can be suggestive of a relativistic hadronic component in blazar jets that otherwise would remain hidden. The production of narrow features or spectral hardenings due toπ0decay in the VHE spectra of blazars is testable with the advent of CTA.
Cyclotron line formation in the radiative shock of an accreting magnetized neutron star
Authors: Loudas Nick , Kylafis Nikolaos D. , Trümper Joachim 
Published: March 2024

Context. Magnetic neutron stars (NSs) often exhibit a cyclotron resonant scattering feature (CRSF) in their X-ray spectra. Accretion onto their magnetic poles is responsible for the emergence of X-rays, but the site of the CRSF formation is still a puzzle. A promising candidate for high-luminosity sources has always been the radiative shock in the accretion column. Nevertheless, no quantitative calculations of spectral formation at the radiative shock have been performed so far.
Aims. It is well accepted that, in the accretion column of a high-luminosity, accreting magnetic NS, a radiative shock is formed. Here, we aim to explore the scenario where the shock is the site of the cyclotron-line formation. We studied spectral formation at the radiative shock and the emergent spectral shape across a wide range of the parameter space and determined which parameters hold an important role in shaping a prominent CRSF.
Methods. We developed a Monte Carlo (MC) code based on the forced first collision numerical scheme to conduct radiation transfer simulations at the radiative shock. The seed photons were due to bremsstrahlung and were emitted in the post-shock region. We properly treated bulk-motion Comptonization in the pre-shock region, thermal Comptonization in the post-shock region, and resonant Compton scattering in both regions. We adopted a fully relativistic scheme for the interaction between radiation and electrons, employing an appropriate polarization-averaged differential cross-section. As a result, we calculated the angle- and energy-dependent emergent X-ray spectrum from the radiative shock, focusing on both the CRSF and the X-ray continuum, under diverse conditions. The accretion column was characterized by cylindrical symmetry, and the radiative shock was treated as a mathematical discontinuity.
Results. We find that a power law, hard X-ray continuum, and a CRSF are naturally produced by the first-order Fermi energization as the photons criss-cross the shock. The depth and the width of the CRSF depend mainly on the transverse optical depth and the post-shock temperature. We show that the cyclotron-line energy centroid is shifted by ∼(20 − 30)% to lower energies compared to the classical cyclotron energy; this is due to the Doppler boosting between the shock reference frame and the bulk-motion frame. We demonstrate that a “bump” feature arises in the right wing of the CRSF due to the up-scattering of photons by the accreting plasma and extends to higher energies for larger optical depths and post-shock temperatures.
Conclusions. We conclude that resonant Compton scattering of photons by electrons in a radiative shock is efficient in producing a power-law X-ray continuum with a high-energy cutoff accompanied by a prominent CRSF. The implications of the Doppler effect on the centroid of the emergent absorption feature must be considered if an accurate determination of the magnetic field strength is desired.
Evolution of coronal mass ejections with and without sheaths from the inner to the outer heliosphere: Statistical investigation for 1975 to 2022
Authors: Larrodera C. , Temmer M. 
Published: March 2024

Aims. This study covers a thorough statistical investigation of the evolution of interplanetary coronal mass ejections (ICMEs) with and without sheaths through a broad heliocentric distance and temporal range. The analysis treats the sheath and magnetic obstacle (MO) separately in order to gain more insight on their physical properties. In detail, we aim to unravel different characteristics of these structures occurring over the inner and outer heliosphere.
Methods. The method is based on a large statistical sample of ICMEs probed over different distances in the heliosphere. For this, information about detection times for the sheath and MO from 13 individual ICME catalogs was collected and crosschecked. The time information was then combined into a main catalog that was used as the basis for the statistical investigation. The data analysis based on this catalog covers a large number of spacecraft missions, enabling in situ solar wind measurements from 1975 to 2022. This allowed us to study the differences between solar cycles.
Results. All the structures under study (sheath, MO with and without sheath) show the biggest increase in size together with the largest decrease in density at a distance of ∼0.75 AU. At 1 AU, we found different sizes for MOs with and without a sheath, with the former being larger. Up to 1 AU, the upstream solar wind shows the strongest pileup close to the interface with the sheath. For larger distances, the pileup region seems to shift, and it recedes from that interface further into the upstream solar wind. This might refer to a change in the sheath formation mechanism (driven versus non-driven) with heliocentric distance, suggesting the relevance of the CME propagation and the expansion behavior in the outer heliosphere. A comparison to previous studies showed inconsistencies over the solar cycle, which makes more detailed studies necessary in order to fully understand the evolution of ICME structures.
Eccentric binaries: Periastron events and tidal heating
Authors: Koenigsberger G. , Estrella-Trujillo D. 
Published: March 2024

Context. Binary stars cannot be fully understood without assessing the interaction effects between the two components and the impact of these effects on observational diagnostics. Periastron brightening events, also known as the heartbeat phenomenon, are a clear manifestation of this type of interaction.
Aims. We aim to explore the role of tidal shear energy dissipation in stars undergoing periastron brightening events.
Methods. We performed a computation from first principles that uses a quasi-hydrodynamic Lagrangian scheme to simultaneously solve the orbital motion and the equations of motion of a 3D grid of volume elements covering the inner, rigidly rotating “core” of a tidally perturbed star. The equations of motion include the gravitational acceleration of both stars, the centrifugal, Coriolis, gas pressure accelerations, and viscous coupling between volume elements. The method is illustrated for a grid of model binary systems with a 10 M⊙ primary that is perturbed by a 6.97 M⊙ companion in eccentric orbits (e = 0 − 0.7). The model is then applied to the heartbeat star MACHO 80.7443.1718.
Results. We find an increase by factors ∼10−6–10−3 in tidal shear energy dissipation at periastron, consistent with the majority of observed heartbeat stars. The magnitude of the periastron effect correlates with the degree of departure from synchronicity: stars rotating much faster or much slower than the synchronous rate at periastron present the strongest effect. We confirm that for eccentricities ≤0.3, pseudo-synchronization occurs for 0.8 < ω/Ωave < 1, where Ωave is the average orbital angular velocity. The minimum energy rotation rate (pseudo-synchronism) for e = 0.5 and 0.7 occurs for 1.0 < ω/Ωave < 1.15. The tidal shear energy dissipation model reproduces from first principles the ∼23% maximum brightness enhancement at periastron of MACHO 80.7443.1718.
Conclusions. Our results suggest that the magnitude and shape of the heartbeat signal may serve as diagnostics for the internal stellar rotation and turbulent viscosity values.
The awkward rhetoric of Spanish liberalism
Authors: Rosales José María 
Published: March 2024

Abstract
This article explores the ideological controversies around Spanish liberalism through the story of the Citizens
party – from its rise in 2006 through 2023, after a sequence of electoral defeats that almost certified its demise. Born as a
regional party in Catalonia with an anti-nationalist platform focused on linguistic policies, in national politics it fostered a
liberal agenda. The article examines Citizens’ politics of language hiding the party’s liberal identity because of its association
to right-wing outlooks. At its founding documents there was an amalgam of liberal and social democratic constitutional values
inspiring the party’s political approach. No earnest question was made of their difficult accommodation, given their disparity at
the policy level. In 2017 an internal debate arouse, and from 2019 a number of electoral setbacks accelerated it. By then the
liberal language legitimizing its passage from regional into a national party had lost its civic appeal.