bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole-Exome Sequencing Study of Familial Nasopharyngeal Carcinoma and Its Implication for Identifying High-Risk Individuals
Authors: Wang Tong-Min , He Yong-Qiao , Xue Wen-Qiong , Zhang Jiang-Bo , Xia Yun-Fei , Deng Chang-Mi , Zhang Wen-Li , Xiao Ruo-Wen , Liao Ying , Yang Da-Wei , Zhou Ting , Li Dan-Hua , Luo Lu-Ting , Tong Xia-Ting , Wu Yan-Xia , Chen Xue-Yin , Li Xi-Zhao , Zhang Pei-Fen , Zheng Xiao-Hui , Zhang Shao-Dan , Hu Ye-Zhu , Wang Fang , Wu Zi-Yi , Zheng Mei-Qi , Huang Jing-Wen , Jia Yi-Jing , Yuan Lei-Lei , You Rui , Zhou Guan-Qun , Lu Li-Xia , Liu Yu-Ying , Chen Ming-Yuan , Feng Lin , Dai Wei , Ren Ze-Fang , Mai Hai-Qiang , Sun Ying , Ma Jun , Zheng Wei , Lung Maria Li , Jia Wei-Hua 
Published: September 2022

AbstractBackgroundNasopharyngeal carcinoma (NPC) is closely associated with genetic factors and Epstein-Barr virus infection, showing strong familial aggregation. Individuals with a family history suffer elevated NPC risk, requiring effective genetic counseling for risk stratification and individualized prevention.MethodsWe performed whole-exome sequencing on 502 familial NPC patients and 404 unaffected relatives and controls. We systematically evaluated the established cancer predisposition genes and investigated novel NPC susceptibility genes, making comparisons with 21 other familial cancers in the UK biobank (N = 5218).ResultsRare pathogenic mutations in the established cancer predisposition genes were observed in familial NPC patients, including ERCC2 (1.39%), TP63 (1.00%), MUTYH (0.80%), and BRCA1 (0.80%). Additionally, 6 novel susceptibility genes were identified. RAD54L, involved in the DNA repair pathway together with ERCC2, MUTYH, and BRCA1, showed the highest frequency (4.18%) in familial NPC. Enrichment analysis found mutations in TP63 were enriched in familial NPC, and RAD54L and EML2 were enriched in both NPC and other Epstein-Barr virus–associated cancers. Besides rare variants, common variants reported in the studies of sporadic NPC were also associated with familial NPC risk. Individuals in the top quantile of common variant-derived genetic risk score while carrying rare variants exhibited increased NPC risk (odds ratio = 13.47, 95% confidence interval = 6.33 to 28.68, P = 1.48 × 10–11); men in this risk group showed a cumulative lifetime risk of 24.19%, much higher than those in the bottom common variant-derived genetic risk score quantile and without rare variants (2.04%).ConclusionsThis study expands the catalog of NPC susceptibility genes and provides the potential for risk stratification of individuals with an NPC family history.
Optic compressive neuropathy secondary to anterior clinoid mucocele: diagnostic approach, a case report
Authors: Medina-Valencia Francisco J , García-Pretelt Enrique C , Alzate-Carvajal Verónica , Moreno-Huertas Camilo E , Moreno-Arango Isabella 
Published: September 2022

Abstract
Anterior clinoid process (ACP) mucoceles are an uncommon entity and an even rarer cause of visual impairment. We review the case of a 62-year-old female with a 2-year history of progressive right-sided monocular vision loss. Paranasal sinus computed tomography (CT) scan showed bilateral ACP pneumatization. A soft tissue density mass occupied the right ACP with bone expansion and compression of the right orbital canal. An endonasal approach was performed with total vision recovery. Dedicated images are necessary to diagnose ACP. On CT, the affected sinus will have bone erosions. On magnetic resonance imaging, the signal intensity is determined by its protein concentration and mobile water protons. ACP mucoceles’ accurate diagnosis determinates the treatment and surgical approach. Finally, the correct management selection will determine the retrieval of the visual ability.
Bioclimatic controls of CO2 assimilation near range limits of the CAM succulent tree Aloidendron dichotomum
Authors: Grey Kerry-Anne , Foden Wendy B , Midgley Guy F 
Published: September 2022

Abstract
Aloidendron dichotomum appears to be undergoing the early stages of a range shift in response to anthropogenic climate change in south-western Africa. High mortality has been recorded in warmer populations, while population expansions have been recorded in cooler poleward parts of its range. This study aimed to determine the key environmental controls on A. dichotomum photosynthesis in areas of population expansion, to inform the potential attribution of directional population expansion to anthropogenic warming. Nocturnal acid accumulation and CO2 assimilation were measured in individuals growing under a range of temperature and watering treatments in a greenhouse experiment. In addition, nocturnal acid accumulation and phosphoenolpyruvate carboxylase activity were quantified in two wild populations at the most southerly and south-easterly range extents. Multiple lines of evidence confirmed that A. dichotomum performs Crassulacean acid metabolism. Total nocturnal acid accumulation was highest at night-time temperatures of ~21.5 °C, regardless of soil water availability, and night-time CO2 assimilation rates increased with leaf temperature, suggesting a causal link to the cool southern range limit. Leaf acidity at the start of the dark period was highly predictive of nocturnal acid accumulation in all individuals, implicating light availability during the day as an important determinant of nocturnal acid accumulation.
Japanese and Jews in Shanghai
Authors: Hochstadt Steve 
Published: September 2022

Abstract
The actions of the Japanese government and military before and during the Holocaust saved tens of thousands of Jews in Shanghai from murder by Japan’s Nazi allies. Because the Japanese were brutal aggressors in East Asia, because their treatment of the Chinese population was genocidal, because the details and organization of Japanese sexual abuse of Korean women are still matters of international dispute, approaches to the Japanese treatment of European Jewish refugees begin from a negative standpoint. Japanese authorities have not investigated or revealed these actions, and Japanese academics have only just begun to consider this issue worthy of study. Discussion of Japanese policy in Shanghai is often dominated by evidence of antisemitism in Japan, the creation of the Designated Area in 1943 to confine Jewish refugees, and the brutally officious behavior of Kanoh Ghoya. The issuance of life-saving visas by Chiune Sugihara, Japanese Vice-Consul in Kovno, is treated as exceptional humanitarianism. This study focuses on the decisions and behavior of Japanese authorities toward European Jewish refugees in Japan and in Shanghai which allowed them to survive.
GASP XXXIX: MeerKAT hunts Jellyfish in A2626
Authors: Deb Tirna , Verheijen Marc A W , Poggianti Bianca M , Moretti Alessia , van der Hulst J M , Vulcani Benedetta , Ramatsoku Mpati , Serra Paolo , Healy Julia , Gullieuszik Marco , Bacchini Cecilia , Ignesti Alessandro , Müller Ancla , Zabel Nikki , Luber Nicholas , Jaffë Yara L , Gitti Myriam 
Published: September 2022

ABSTRACT
We present MeerKAT H i observations of six jellyfish candidate galaxies (JFCGs) in the galaxy cluster, A2626. Two of the six galaxies JW100 and JW103, which were identified as JFCGs from B-band images, are confirmed as jellyfish galaxies (JFGs). Both of the JFGs have low H i content, reside in the cluster core, and move at very high velocities (∼ 3σcl). The other JFCGs, identified as non-jellyfish galaxies, are H i rich, with H i morphologies revealing warps, asymmetries, and possible tidal interactions. Both the A2626 JFGs and three other confirmed JFGs from the GASP sample show that these galaxies are H i stripped but not yet quenched. We detect H i, H α, and CO(2-1) tails of similar extent (∼50 kpc) in JW100. Comparing the multiphase velocity channels, we do not detect any H i or CO(2-1) emission in the northern section of the tail where H α emission is present, possibly due to prolonged interaction between the stripped gas and the intracluster medium. We also observe an anticorrelation between H i and CO(2-1), which hints at an efficient conversion of H i to H2 in the southern part of the tail. We find that both ram-pressure stripping and H i-to-H2 conversion are significant depletion channels for atomic gas. H i-to-H2 conversion is more efficient in the disc than in the tail.
Validation of TESS exoplanet candidates orbiting solar analogues in the all-sky PLATO input catalogue
Authors: Mantovan Giacomo , Montalto Marco , Piotto Giampaolo , Wilson Thomas G , Cameron Andrew Collier , Majidi Fatemeh Zahra , Borsato Luca , Granata Valentina , Nascimbeni Valerio 
Published: September 2022

ABSTRACT
The Transiting Exoplanet Survey Satellite (TESS) is focusing on relatively bright stars and has found thousands of planet candidates. However, mainly because of the low spatial resolution of its cameras (≈ 21 arcsec/pixel), TESS is expected to detect several false positives (FPs); hence, vetting needs to be done. Here, we present a follow-up program of TESS candidates orbiting solar-analogue stars that are in the all-sky PLATO input catalogue. Using Gaia photometry and astrometry we built an absolute colour–magnitude diagram and isolated solar-analogue candidates’ hosts. We performed a probabilistic validation of each candidate using the vespa software and produced a prioritized list of objects that have the highest probability of being genuine transiting planets. Following this procedure, we eliminated the majority of FPs and statistically vetted 23 candidates. For this remaining set, we performed a stellar neighbourhood analysis using Gaia Early Data Release 3 and centroid motion tests, greatly enhancing the on-target probability of 12 of them. We then used publicly available high-resolution imaging data to confirm their transit source and found five new, fully validated planets. For the remaining candidates, we propose on–off photometry to further refine the list of genuine candidates and prepare for the subsequent radial velocity follow-up.
Baryon acoustic oscillations from H i intensity mapping: The importance of cross-correlations in the monopole and quadrupole
Authors: Rubiola Andrea , Cunnington Steven , Camera Stefano 
Published: September 2022

ABSTRACT
Cosmological parameter estimation in the post-reionization era via neutral hydrogen radio emission (H i) is among the key science goals of the forthcoming SKA Observatory (SKAO). This paper explores detection capability for baryon acoustic oscillations (BAO) with a suite of 100 simulations introducing the main limitations from foreground contamination and poor angular resolution caused by the radio telescope beam. Such broad single-dish beam representing a serious challenge for BAO detection with H i intensity mapping, we investigate a multipole expansion approach as a means for mitigating such limitations. We also showcase the gains made from cross-correlating the H i intensity mapping data with an overlapping spectroscopic galaxy survey, aiming to test potential synergies between the SKA project and other future cosmological experiments at optical/near-infrared wavelengths. For our ${\sim}\,4\, 000\,\mathrm{deg}^2$ data set at $z\, {=}\, 0.9$, replicating the essential features of an SKAO H i intensity mapping survey, we were able to achieve a ${\sim }\, 4.5\sigma$ detection of BAO features in auto-correlation despite the dominant beam effect. Cross-correlation with an overlapping galaxy survey can increase this to a ${\sim }\, 6\sigma$ detection. Furthermore, including the power spectrum quadrupole besides the monopole in a joint fit can approximately double the BAO detection significance. Despite not implementing a radial-only P(k∥) analysis in favour of the three-dimensional $P(\boldsymbol {k})$ and its multipoles, we were still able to obtain robust constraints on the radial Alcock–Paczynski parameter, whereas the perpendicular parameter remains unconstrained and prior dominated due to beam effects.
Anisotropic satellite accretion on to the Local Group with HESTIA
Authors: Dupuy Alexandra , Libeskind Noam I , Hoffman Yehuda , Courtois Hélène M , Gottlöber Stefan , Grand Robert J J , Knebe Alexander , Sorce Jenny G , Tempel Elmo , Tully R Brent , Vogelsberger Mark , Wang Peng 
Published: September 2022

ABSTRACT
How the cosmic web feeds haloes, and fuels galaxy formation is an open question with wide implications. This study explores the mass assembly in the Local Group (LG) within the context of the local cosmography by employing simulations whose initial conditions have been constrained to reproduce the local environment. The goal of this study is to inspect whether the direction of accretion of satellites on to the Milky Way and Andromeda galaxies is related to the cosmic web. The analysis considers the three high-resolution simulations available in the HESTIA simulation suite, as well as the derived velocity shear and tidal tensors. We notice two eras in the LG accretion history, delimited by an epoch around z ≈ 0.7. We also find that satellites can travel up to ∼4 Mpc, relative to their parent halo before crossing its viral radius R200. Finally, we observe a strong alignment of the infall direction with the axis of slowest collapse $\boldsymbol{e}_{3}$ of both tidal and shear tensors, implying satellites of the LG originated from one particular region of the cosmic web and were channeled towards us via the process of accretion.This alignment is dominated by the satellites that enter during the early infall era, i.e. z &gt; 0.7.
High-resolution spectral models of TRAPPIST-1e seen as a Pale Blue Dot for ELT and JWST observations
Authors: Lin Zifan , Kaltenegger Lisa 
Published: September 2022

ABSTRACT
Rocky exoplanets orbiting in the habitable zone (HZ) of nearby M dwarfs provide unique opportunities for characterizing their atmospheres and searching for biosignature gases. TRAPPIST-1e, a temperate Earth-sized exoplanet in the HZ of a nearby M dwarf, is arguably the most favourable target for ground- and space-based atmospheric characterization by the extremely large telescopes (ELTs) and the James Webb Space Telescope. To inform future observations in reflected and emitted lights using these upcoming telescopes, we simulate the high-resolution reflection and emission spectra for TRAPPIST-1e for both modern and prebiotic Earth-like atmospheric compositions. To demonstrate the effects of wavelength-dependent albedo on climate and spectra, we further simulate five albedo scenarios for each atmospheric composition: cloudy modern Earth-like, cloud-free modern Earth-like, cloudy ocean planet, 100 per cent cloudy planet, and wavelength-independent albedo of 0.31. We use the recent Mega-MUSCLES spectral energy distribution of TRAPPIST-1 for our models. We show that the O2 + CH4 and O3 + CH4 biosignature pairs as well as climate indicators (CO2 and H2O) show features in both high-resolution reflection and emission spectra of TRAPPIST-1e that the ELTs can search for. Our high-resolution data base for modern and prebiotic Earth TRAPPIST-1e models with various surface compositions and cloud distributions provides a tool for observers to train retrieval algorithms and plan observation strategies to characterize this potentially habitable world.
Rapid localization of gravitational wave hosts with FIGARO
Authors: Rinaldi Stefano , Del Pozzo Walter 
Published: September 2022

ABSTRACT
The copious scientific literature produced after the detection of GW170817 electromagnetic counterpart demonstrated the importance of a prompt and accurate localization of the gravitational wave within the comoving volume. In this letter, we present figaro, a ready to use and publicly available software that relies on Bayesian non-parametrics. figaro is designed to run in parallel with parameter estimation algorithms to provide updated three-dimensional volume localization information. Differently from any existing algorithms, the analytical nature of the figaro reconstruction allows a ranking of the entries of galaxy catalogues by their probability of being the host of a gravitational wave event, hence providing an additional tool for a prompt electromagnetic follow up of gravitational waves. We illustrate the features of figaro on binary black holes as well as on GW170817. Finally, we demonstrate the robustness of figaro by producing so-called pp-plots and we present a method based on information entropy to assess when, during the parameter estimation run, it is reasonable to begin releasing skymaps.
Sirtuin Evolution at the Dawn of Animal Life
Authors: Gold David A , Sinclair David A 
Published: September 2022

Abstract
Sirtuins are a family of proteins that protect against cellular injury and aging; understanding their evolution should reveal fundamental mechanisms governing longevity. “Early-branching” animals such as sea sponges and jellyfish have been understudied in previous analyses of sirtuin diversity. These organisms not only hold important positions at the base of the evolutionary tree, but also have unique aging dynamics that defy convention, such as quasi-immortality and high regenerative capacity. In this study, we survey the evolution of sirtuin proteins in animals, with a focus on the oldest living lineages. We describe previously unrecognized expansions of “Class IV” and “Class I” sirtuins around the origin of animals, raising the number of sirtuin families in the last common ancestor to at least nine. Most of these undescribed sirtuins have been lost in vertebrates and other bilaterian animals. Our work also clarifies the evolution of PNC1 and NAMPT enzymes that carry out the rate-limiting step in sirtuin-related NAD+ biosynthesis. The genes for PNC1 and NAMPT enzymes were both present in the first animals, with the genes being lost a minimum of 11 and 13 times, respectively, over the course of animal evolution. We propose that species with these ancestral gene repertoires are ideal model organisms for studying the genetic regulation of animal longevity and will provide clues to increasing longevity in humans.
Follicle isolation methods reveal plasticity of granulosa cell steroidogenic capacity during mouse in vitro follicle growth
Authors: Babayev Elnur , Xu Min , Shea Lonnie D , Woodruff Teresa K , Duncan Francesca E 
Published: September 2022

Abstract
Follicles are the functional unit of the ovary and several methods have been developed to grow follicles ex vivo, which recapitulate key events of oogenesis and folliculogenesis. Enzymatic digestion protocols are often used to increase the yield of follicles from the ovary. However, the impact of these protocols on the outermost theca and granulosa cells, and thereby follicle function, is not well defined. To investigate the impact of enzymatic digestion on follicle function, we collected preantral follicles from CD1 mice either by enzymatic digestion (Enzy-FL) or mechanical isolation (Mech-FL) and compared follicle growth, steroidogenesis and cell differentiation within an encapsulated in vitro follicle growth system which maintains the 3D architecture of the oocyte and its surrounding somatic cells. Follicles were encapsulated in 0.5% alginate and cultured for 8 days. Compared with Enzy-FL, Mech-FL grew more rapidly and produced significantly higher levels of androstenedione, estradiol and progesterone. The expression of theca-interstitial cell marker genes, Cyp17a1, which encodes 17-hydroxylase/17, 20-lyase and catalyzes the hydroxylation of pregnenolone and progesterone to 17-hydroxypregnenolone and 17-hydroxyprogesterone, and the conversion of these products into dehydroepiandrosterone and androstenedione, and Star, which encodes a transport protein essential for cholesterol entry into mitochondria, were also higher in Mech-FL than in Enzy-FL. Mech-FL maintained an intact theca-interstitial layer on the outer edge of the follicle that phenocopied in vivo patterns as confirmed by alkaline phosphatase staining, whereas theca-interstitial cells were absent from Enzy-FL from the onset of culture. Therefore, preservation of the theca cell layer at the onset of culture better supports follicle growth and function. Interestingly, granulosa cells in the outermost layers of Enzy-FL expressed CYP17A1 by Day 4 of culture while maintaining inhibin α-subunit expression and a cuboidal nucleus. Thus, in the absence of theca-interstitial cells, granulosa cells have the potential to differentiate into androgen-producing cells. This work may have implications for human follicle culture, where enzymatic isolation is required owing to the density of the ovarian cortex.
The Australia Smoking and Vaping Model: The Potential Impact of Increasing Access to Nicotine Vaping Products
Authors: Levy David T , Gartner Coral , Liber Alex C , Sánchez-Romero Luz Maria , Yuan Zhe , Li Yameng , Cummings K Michael , Borland Ron 
Published: September 2022

Abstract

Background
We model the potential impact of relaxing current nicotine vaping product (NVP) restrictions on public health in Australia.

Aims and Methods
A Restricted NVP Scenario was first developed to project current smoking and vaping rates, where a U.S. smoking model was calibrated to recent Australian trends. To model less restrictive NVP policies, a Permissive NVP Scenario applied rates of switching from smoking to vaping, initiation into NVP and cigarette use, and cessation from smoking and vaping based on U.S. trends. The model measures vaping risk relative to the excess mortality rate of smoking. The public health impacts are measured as the difference between smoking- and vaping-attributable deaths (SVADs) and life years lost (LYLs) in the Restricted and Permissive NVP Scenarios. Sensitivity analysis is conducted regarding the NVP excess risk and other factors.

Results
Assuming an NVP excess risk of 5% that of smoking, 104.2 thousand SVADs (7.7% reduction) and 2.05 million LYLs (17.3% reduction) are averted during 2017–2080 in the Permissive NVP Scenario compared to the Restricted NVP Scenario. Assuming 40% NVP excess risk, 70 thousand SVADs and 1.2 million LYLs are averted. The impact is sensitive to the rate at which smokers switch to NVPs and quit smoking, and relatively insensitive to the smoking initiation and NVP initiation and cessation rates.

Conclusions
The model suggests the potential for public health gains to be achieved by relaxing NVP access regulations. However, the model would benefit from better information regarding the impact of NVPs on smoking under a relaxation of current restrictions.

Implications
Australia has implemented a strong array of cigarette-oriented policies, but has restricted access to NVPs. The Smoking and Vaping Model offers a framework for modeling hypothetical policy scenarios. The Australian model shows the potential for public health gains by maintaining cigarette-oriented policies while relaxing the current restrictive NVP policy. Modeling results under a permissive NVP policy are particularly sensitive to the estimated rates of smoking cessation and switching to vaping, which are not well established and will likely depend on past and future cigarette-oriented policies and the specific NVP policies implemented in Australia.