bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas
Authors: Smirne C. , Giacomini G. M. , Berton A. M. , Pasini B. , Mercalli F. , Prodam F. , Caputo M. , Brosens L. A. A. , Mollero E. L. M. , Pitino R. , Pirisi M. , Aimaretti G. , Ghigo E. 
Published: January 2024

Abstract
Purpose
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine syndrome caused by pathogenic variants in MEN1 tumor suppressor gene. Diagnosis is commonly based on clinical criteria and confirmed by genetic testing. The objective of the present study was to report on a MEN1 case characterized by multiple pancreatic glucagonomas, with particular concern on the possible predisposing genetic defects.

Methods
While conducting an extensive review of the most recent scientific evidence on the unusual glucagonoma familial forms, we analyzed the MEN1 gene in a 35-year-old female with MEN1, as well as her son and daughter, using Sanger and next-generation sequencing (NGS) approaches. We additionally explored the functional and structural consequences of the identified variant using in silico analyses.

Results
NGS did not show any known pathogenic variant in the tested regions. However, a new non-conservative variant in exon 4 of MEN1 gene was found in heterozygosity in the patient and in her daughter, resulting in an amino acid substitution from hydrophobic cysteine to hydrophilic arginine at c.703T > C, p.(Cys235Arg). This variant is absent from populations databases and was never reported in full papers: its characteristics, together with the high specificity of the patient’s clinical phenotype, pointed toward a possible causative role.

Conclusion
Our findings confirm the need for careful genetic analysis of patients with MEN1 and establish a likely pathogenic role for the new p.(Cys235Arg) variant, at least in the rare subset of MEN1 associated with glucagonomas.
Assessment and management of vestibular migraine within ENT
Authors: Pajaniappane Arun 
Published: January 2024

AbstractObjectiveVestibular migraine is a newly recognised and debilitating condition. This article aims to provide an overview of what is known of vestibular migraine, delineating its diagnostic criteria and presenting some initial management strategies to aid ENT professionals in delivering optimal care when patients first present to the otolaryngology clinic.MethodAlthough traditionally underdiagnosed, there are now clearly defined diagnostic criteria to aid accurate diagnosis of vestibular migraine.ResultsA detailed history and clinical examination are the cornerstone of the diagnostic process, but supportive evidence is required from appropriate audio-vestibular tests and imaging.ConclusionThis is a unique condition that commonly initially presents to ENT. This article provides a summary of diagnostic and management strategies to facilitate early diagnosis and first-line treatment that can be employed in general ENT settings, which may be particularly useful given the limited availability of specialist audio-vestibular medicine and neuro-otology services.
Deciphering l’esprit d’internationalité: The 1872 Alabama arbitration and the pacifist antithesis of modern international law profession
Authors: Chen Xiaohang 
Published: January 2024

AbstractIn international legal historiography, it becomes a commonplace that the successful resolution of the Alabama dispute between Britain and the US by the 1872 Geneva Tribunal of arbitration – the 1872 Alabama arbitration – kindled the progressivist enthusiasm of liberal internationalists for projects of humanitarianism, the codification of international law, and international arbitration. The article aims to take this scholarship further by arguing that, against this backdrop of reformist enthusiasm for international law, two transnational social reform movements – pacifist internationalism and legalist internationalism – converged in a joint effort of social and intellectual mobilization in furtherance of an ordered system of international law and its judicial application in practice. The epitome of this encounter was the almost simultaneous creation of the International Law Association and the Institut de Droit International in 1873. The article shows that international jurists sought to delineate the nascent modern international law profession by strategically distancing their scientific cause of international law from the one embarked on by their pacifist counterparts. By demarcating international legal science in contrast to the contemporary pacifist activism of international law, international jurists set the parameters of their social networks, and manoeuvred for professional outreach. Yet it is precisely by bringing back the pacifist antithesis that had been deliberately relegated into the secondary by international jurists – ‘the men of 1873’ – that some previously under-emphasized aspects of the sensibility of l’esprit d’internationalité can be grasped.
Effectiveness and predictors of group cognitive behaviour therapy outcome for generalised anxiety disorder in an out-patient hospital setting
Authors: Malivoire B. L. , Stewart K. E. , Cameron D. , Rowa K. , McCabe R. E. 
Published: January 2024

AbstractBackground:Cognitive behavioural therapy (CBT) is an empirically supported treatment for generalized anxiety disorder (GAD). Little is known about the effectiveness of CBT for GAD in real-world treatment settings.Aim:This study investigated the effectiveness of group CBT and predictors of treatment response in an out-patient hospital clinic.Method:Participants (n = 386) with GAD participated in 12 sessions of group CBT at an out-patient clinic. Of those who provided at least partial data (n = 326), 84.5% completed treatment. Most questionnaires were completed at pre- and post-treatment; worry severity was assessed weekly.Results:Group CBT led to improvements in chronic worry (d = –0.91, n = 118), depressive symptoms (d = –1.22, n = 172), GAD symptom severity (d = –0.65, n = 171), intolerance of uncertainty (IU; d = –0.46, n = 174) and level of functional impairment (d = –0.35, n = 169). Greater pre-treatment GAD symptom severity (d = –0.17, n = 293), chronic worry (d = –0.20, n = 185), functional impairment (d = –0.12, n = 292), and number of comorbid diagnoses (d = –0.13, n = 299) predicted greater improvement in past week worry over treatment. Biological sex, age, depression symptom severity, number of treatment sessions attended, and IU did not predict change in past week worry over time.Discussion:These findings provide support for the effectiveness of group CBT for GAD and suggest the outcomes are robust and are either not impacted or are slightly positively impacted by several demographic and clinical factors.
Seasonal and Diurnal Variability in Near‐Surface Air and Ground Temperature Regimes of the Alpine Zone of Mount Kenya
Authors: Downing Timothy A. , Olago Daniel O. , Nyumba Tobias 
Published: January 2024

AbstractMountains near the equator have very unique temperature regimes due to the tropical latitude and alpine altitude. How climate change will impact these temperature regimes is not clear as there are so few temperature records in these environments. This study attempts to characterize the near‐surface air and ground temperature regime for the Teleki Valley (3,200–4,200 m. a.s.l) on the western slope of Mount Kenya using a set of six temperature loggers placed at 200 m elevation intervals. Temperature was recorded at 30 min intervals from September 2021 to October 2022. The mean diurnal temperature range varied from 6°C to 14°C, with maximum daily swings in excess of 25°C. There was a distinct seasonality in temperature, with a hot season during the months of January‐March, where it was roughly 3°C warmer than the coolest months. Diurnal temperature swings were also highest in March. This seasonality is driven by radiation and moisture: higher radiation during the vernal equinox combined with clear skies during the dry season made for higher temperatures. Elevation was the dominant spatial gradient determining temperature regimes, but rock and vegetation cover played a large role in modifying near‐surface air and ground temperature. The highest elevation logger (4,200 m. a.s.l), measuring ground temperature, showed muted seasonal and diurnal swings, creating for warmer temperatures than lower elevation loggers. This demonstrates the importance of thermal refugia at these high elevations. This also makes predictions of plant and animal responses to climate change difficult, as uniform upward shifts would not necessarily maintain thermal niches.
Bayesian Estimation of Advanced Warning Time of Precipitation Emergence
Authors: Lickley Megan , Fletcher Sarah 
Published: January 2024

AbstractClimate models disagree on the direction of precipitation change over about half of the Earth. Current characterizations of expected change use the ensemble mean, which systematically underestimates the magnitude and overestimates the time of emergence (ToE) of precipitation change in regions of high uncertainty. We develop a new approach to estimate both ToE and the potential to update uncertainty in precipitation over time with new observations. Further, we develop two new metrics that increase the usefulness of ToE for adaptation planning. The time of confidence estimates when projections of precipitation emergence will have high confidence. Second, the advance warning time (AWT) indicates how long policymakers will have to prepare for a new precipitation regime after they know change is likely to occur. Our approach uses individual model projections that show change before averaging across models to calculate ToE. It then applies a Bayesian method to constrain uncertainty from climate model ensembles using a perfect model approach. Results demonstrate the potential for widespread and decades‐earlier precipitation emergence, with potential for end‐of‐century emergence to occur across 99% of the Earth compared to 60% in previous estimates. Our method reduces uncertainty in the direction of change across 8% of the globe. We find positive estimates of AWT across most of the Earth; however, in 34% of regions there is potential for no advanced warning before new precipitation regimes emerge. These estimates can guide adaptation planning, reducing the risk that policymakers are unprepared for precipitation changes that occur earlier than expected.
Preliminary Characterization of Submarine Basalt Magnetic Mineralogy Using Amplitude‐Dependence of Magnetic Susceptibility
Authors: Yang H. , Tikoo S. M. , Carvallo C. , Bilardello D. , Solheid P. , Gaastra K. M. , Sager W. W. , Thoram S. , Hoernle K. , Höfig T. W. , Avery A. , Del Gaudio A. V. , Huang Y. , Bhutani R. , Buchs D. M. , Class C. , Dai Y. , Dalla Valle G. , Fielding S. , Han S. , Heaton D. E. , Homrighausen S. , Kubota Y. , Li C.‐F. , Nelson W. R. , Petrou E. , Potter K. E. , Pujatti S. , Scholpp J. , Shervais J. W. , Tshiningayamwe M. , Wang X. J. , Widdowson M. 
Published: January 2024

AbstractThe past ∼200 million years of Earth's geomagnetic field behavior have been recorded within oceanic basalts, many of which are only accessible via scientific ocean drilling. Obtaining the best possible paleomagnetic measurements from such valuable samples requires an a priori understanding of their magnetic mineralogies when choosing the most appropriate protocol for stepwise demagnetization experiments (either alternating field or thermal). Here, we present a quick, and non‐destructive method that utilizes the amplitude‐dependence of magnetic susceptibility to screen submarine basalts prior to choosing a demagnetization protocol, whenever conducting a pilot study or other detailed rock‐magnetic characterization is not possible. We demonstrate this method using samples acquired during International Ocean Discovery Program Expedition 391. Our approach is rooted in the observation that amplitude‐dependent magnetic susceptibility is observed in basalt samples whose dominant magnetic carrier is multidomain titanomagnetite (∼TM60–65, (Ti0.60–0.65Fe0.35–0.40)Fe2O4). Samples with low Ti contents within titanomagnetite or samples that have experienced a high degree of oxidative weathering do not display appreciable amplitude dependence. Due to their low Curie temperatures, basalts that possess amplitude‐dependence should ideally be demagnetized either using alternating fields or via finely‐spaced thermal demagnetization heating steps below 300°C. Our screening method can enhance the success rate of paleomagnetic studies of oceanic basalt samples.
First Daytime Red‐Line Emission Measurements of the Stable Auroral Red (SAR) Arcs
Authors: Upadhyay Kshitiz , Pallamraju Duggirala 
Published: January 2024

AbstractWe present the first ground‐based measurements of daytime stable auroral red (SAR) arc using OI 630.0 nm emissions. SAR arc is a direct consequence of heat conduction from the inner‐magnetosphere to the ionospheric regions characterized by increased electron temperatures and low electron density in the region of mid‐latitude trough. So far, SAR arc emissions have only been reported for nighttime conditions. For the present study, daytime optical measurements were enabled using a high‐resolution imaging echelle spectrograph from Boston (42.36°N, 71.05°W, MLAT ≈ 53°). Simultaneous Millstone Hill Incoherent Scatter Radar and Defense Meteorological Satellite Program measurements of electron density and temperature confirm our findings. Forward modeling approach enabled estimation of daytime electron temperatures in 200–650 km altitude during this SAR arc event to be varying between 3,500 and 4,400 K. These observations open numerous possibilities of optical investigations of magnetospheric‐ionospheric interactions during daytime, when the upper atmosphere is dynamic with large gradients in ionospheric conductivities, temperatures, and winds.
Mechanisms of Added Value of a Coupled Global Ocean‐Regional Atmosphere Climate Model Over Central Equatorial Africa
Authors: Tamoffo Alain T. , Weber Torsten , Cabos William , Sein Dmitry V. , Dosio Alessandro , Rechid Diana , Remedio Armelle R. , Jacob Daniela 
Published: January 2024

AbstractThere is an urgent need to enhance climate projections for Central Equatorial Africa (CEA), given the region's high vulnerability to climatic hazards and its economy's heavy dependence on climate‐sensitive sectors. This study aims to evaluate the performance of the regional earth system model ROM, composed of the atmosphere‐only regional climate model (RCM) REMO coupled with the global Max Planck Institute for Meteorology Ocean Model (MPIOM), in reproducing the precipitation climatology over CEA. ROM results are compared to those of REMO in two sets of experiments, one driven by the ERA‐Interim reanalysis and the other by the MPI‐ESM‐LR earth system model (ESM), both at ∼25‐km horizontal resolution. Results show that ocean coupling improves rainfall climatology thanks to a better representation of the physical processes and mechanisms underlying the rainfall system. In particular, an improved sea surface temperature (SST) results in a more realistic simulation of land‐atmosphere‐ocean interactions, and subsequently the atmospheric baroclinicity. Specifically, the coupling reduces the positive SST bias inherited by the driving ESM across the entire Guinea Gulf and Benguela‐Angola coastal seas. This leads to better simulated land‐ocean thermal and pressure contrasts. Improvements in land‐ocean contrasts, in turn, enhance the representation of the regional atmospheric circulation, and thus precipitation. Interestingly, the coupling is more beneficial when ROM is driven by the ESM than the reanalysis. This study emphasizes the advantage of dynamically downscaling ESMs using regional earth system models rather than atmosphere‐only RCMs, with the potential to enhance confidence in future climate projections.
Biomarker Reconstruction of a High‐Latitude Late Paleocene to Early Eocene Coal Swamp Environment Across the PETM and ETM‐2 (Ellesmere Island, Arctic Canada)
Authors: Blumenberg Martin , Naafs B. David A. , Lückge Andreas , Lauretano Vittoria , Schefuß Enno , Galloway Jennifer M. , Scheeder Georg , Reinhardt Lutz 
Published: January 2024

AbstractThe Paleocene‐Eocene Thermal Maximum (PETM) and early Eocene hyperthermal events were characterized by a Hothouse climate state. Our understanding of the climatic impact of these hyperthermals is currently biased toward marine settings and the mid‐latitudes. Here we present organic geochemical data from Stenkul Fiord, Ellesmere Island, Arctic Canada. This organic rich formation was deposited in a high northern latitude wetland setting during the late Paleocene to early Eocene, spanning the PETM and subsequent ETM‐2 hyperthermals. Biomarker data (e.g., diterpenoids), combined with published palynological data from the site, indicate Cupressaceae‐dominated vegetation. Biomarkers suggest that land plant composition remained fairly unchanged across the two hyperthermal events. Increases in abundance and 13C‐depletion of hopanoid biomarkers (minima <−50‰ (VPDB)) highlight periods of enhanced bacterial methane consumption, particularly during the PETM. However, periods of low hopanoid δ13C values were also found outside the hyperthermal intervals. Relatively low δ2H values of higher plant n‐alkanes (average δ2H values of n‐C25, n‐C27, n‐C29 ∼ −230 to −270‰ (SMOW)) indicate that deposition formed during times with enhanced precipitation. The wettest intervals, as identified by the lowest δ2H n‐alkane values, contain high abundances of hopenes, indicating enhanced bacterial turnover. At Stenkul Fiord, high temperatures and CO2 concentrations likely fostered the growth of widespread wetland forests that became a CO2 sink and may have played an important role in carbon drawdown during the Early Paleogene.
Surface-emitting lasers meet metasurfaces
Authors: Shitrit Nir 
Published: January 2024

AbstractThe integration between vertical-cavity surface-emitting lasers and metasurfaces has been demonstrated to enable on-chip high-angle illumination for total internal reflection and dark-field microscopy. Such an ultracompact combined laser–beam shaper system provides a versatile illumination module for high-contrast imaging, thus leveraging biophotonics and lab-on-a-chip devices and facilitating life-science applications.
Hyperreflective photonic crystals created by shearing colloidal dispersions at ultrahigh volume fraction
Authors: Kim Minji , Kim Jong Bin , Kim Shin-Hyun 
Published: January 2024

AbstractColloidal crystallization serves as one of the most economic and scalable production methods for photonic crystals. However, insufficient optical performance, nonuniformity and low reproducibility remain challenges for advanced high-value applications. In this study, we optimally formulate a photocurable dispersion of silica particles and apply shear flow to unify the orientation of the colloidal crystals, ensuring high optical performance and uniformity. The silica particles experience strong repulsion at ultrahigh volume fractions of 50% but demonstrate low mobility, leading to polycrystalline structures. Applying shear flow to the dispersions allows the silica particles to rearrange into larger crystalline domains with a unidirectional orientation along the flow. This shear-induced structural change produces absolute reflectivity at the stopband as high as 90% and a high transparency of 90% at off-resonant wavelengths with minimal diffusive scattering. Furthermore, the strong interparticle repulsion ensures a uniform volume fraction of particles throughout the dispersion, reducing deviations in the optical properties. We intricately micropattern the photocurable dispersions using photolithography. Additionally, the photonic films and patterns can be stacked to form multiple layers, displaying mixed structural colors and multiple reflectance peaks without sacrificing reflectivity. These superior photonic materials hold promise for various optical applications, including optical components and anticounterfeiting patches.
Blood epigenome-wide association studies of suicide attempt in adults with bipolar disorder
Authors: Mirza Salahudeen , Lima Camila N. C. , Del Favero-Campbell Alexandra , Rubinstein Alexandre , Topolski Natasha , Cabrera-Mendoza Brenda , Kovács Emese H. C. , Blumberg Hilary P. , Richards Jenny Gringer , Williams Aislinn J. , Wemmie John A. , Magnotta Vincent A. , Fiedorowicz Jess G. , Gaine Marie E. , Walss-Bass Consuelo , Quevedo Joao , Soares Jair C. , Fries Gabriel R. 
Published: January 2024

AbstractSuicide attempt (SA) risk is elevated in individuals with bipolar disorder (BD), and DNA methylation patterns may serve as possible biomarkers of SA. We conducted epigenome-wide association studies (EWAS) of blood DNA methylation associated with BD and SA. DNA methylation was measured at >700,000 positions in a discovery cohort ofn = 84 adults with BD with a history of SA (BD/SA),n = 79 adults with BD without history of SA (BD/non-SA), andn = 76 non-psychiatric controls (CON). EWAS revealed six differentially methylated positions (DMPs) and seven differentially methylated regions (DMRs) between BD/SA and BD/non-SA, with multiple immune-related genes implicated. There were no epigenome-wide significant differences when BD/SA and BD/non-SA were each compared to CON, and patterns suggested that epigenetics differentiating BD/SA from BD/non-SA do not differentiate BD/non-SA from CON. Weighted gene co-methylation network analysis and trait enrichment analysis of the BD/SA vs. BD/non-SA contrast further corroborated immune system involvement, while gene ontology analysis implicated calcium signalling. In an independent replication cohort ofn = 48 BD/SA andn = 47 BD/non-SA, fold changes at the discovery cohort’s significant sites showed moderate correlation across cohorts and agreement on direction. In both cohorts, classification accuracy for SA history among individuals with BD was highest when methylation at the significant CpG sites as well as information from clinical interviews were combined, with an AUC of 88.8% (CI = 83.8–93.8%) and 82.1% (CI = 73.6–90.5%) for the combined epigenetic-clinical classifier in the discovery and replication cohorts, respectively. Our results provide novel insight to the role of immune system functioning in SA and BD and also suggest that integrating information from multiple levels of analysis holds promise to improve risk assessment for SA in adults with BD.
Targeting FBXO22 enhances radiosensitivity in non-small cell lung cancer by inhibiting the FOXM1/Rad51 axis
Authors: Chen Yunshang , Zhou Yun , Feng Xue , Wu Zilong , Yang Yongqiang , Rao Xinrui , Zhou Rui , Meng Rui , Dong Xiaorong , Xu Shuangbing , Zhang Sheng , Wu Gang , Jie Xiaohua 
Published: January 2024

AbstractRadioresistance is a major constraint on the efficacy of lung cancer radiotherapy, but its mechanism has not been fully elucidated. Here, we found that FBXO22 was aberrantly highly expressed in lung cancer and that FBXO22 knockdown increased the radiosensitivity of lung cancer cells. Mechanistically, FBXO22 promoted Rad51 gene transcription by increasing the level of FOXM1 at the Rad51 promoter, thereby inducing the formation of lung cancer radioresistance. Furthermore, we found that deguelin, a potential inhibitor of FBXO22, enhanced radiosensitivity in an FBXO22/Rad51-dependent manner and was safely tolerated in vivo. Collectively, our results illustrate that FBXO22 induces lung cancer radioresistance by activating the FOXM1/Rad51 axis and provide preclinical evidence for the clinical translation of this critical target.