bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies
Authors: Jolfayi Amir Ghaffari , Kohansal Erfan , Ghasemi Serwa , Naderi Niloofar , Hesami Mahshid , MozafaryBazargany MohammadHossein , Moghadam Maryam Hosseini , Fazelifar Amir Farjam , Maleki Majid , Kalayinia Samira 
Published: March 2024

AbstractThe giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for the components of the contractile machinery which plays a crucial role in muscle disorders and cardiomyopathies. Diagnosing TTN pathogenic variants has important implications for patient management and genetic counseling. Genetic testing for TTN variants can help identify individuals at risk for developing cardiomyopathies, allowing for early intervention and personalized treatment strategies. Furthermore, identifying TTN variants can inform prognosis and guide therapeutic decisions. Deciphering the intricate genotype–phenotype correlations between TTN variants and their pathologic traits in cardiomyopathies is imperative for gene-based diagnosis, risk assessment, and personalized clinical management. With the increasing use of next-generation sequencing (NGS), a high number of variants in the TTN gene have been detected in patients with cardiomyopathies. However, not all TTN variants detected in cardiomyopathy cohorts can be assumed to be disease-causing. The interpretation of TTN variants remains challenging due to high background population variation. This narrative review aimed to comprehensively summarize current evidence on TTN variants identified in published cardiomyopathy studies and determine which specific variants are likely pathogenic contributors to cardiomyopathy development.
Large-scale cranial window for in vivo mouse brain imaging utilizing fluoropolymer nanosheet and light-curable resin
Authors: Takahashi Taiga , Zhang Hong , Agetsuma Masakazu , Nabekura Junichi , Otomo Kohei , Okamura Yosuke , Nemoto Tomomi 
Published: March 2024

AbstractTwo-photon microscopy enables in vivo imaging of neuronal activity in mammalian brains at high resolution. However, two-photon imaging tools for stable, long-term, and simultaneous study of multiple brain regions in same mice are lacking. Here, we propose a method to create large cranial windows covering such as the whole parietal cortex and cerebellum in mice using fluoropolymer nanosheets covered with light-curable resin (termed the ‘Nanosheet Incorporated into light-curable REsin’ or NIRE method). NIRE method can produce cranial windows conforming the curved cortical and cerebellar surfaces, without motion artifacts in awake mice, and maintain transparency for >5 months. In addition, we demonstrate that NIRE method can be used for in vivo two-photon imaging of neuronal ensembles, individual neurons and subcellular structures such as dendritic spines. The NIRE method can facilitate in vivo large-scale analysis of heretofore inaccessible neural processes, such as the neuroplastic changes associated with maturation, learning and neural pathogenesis.
High-density cortical µECoG arrays concurrently track spreading depolarizations and long-term evolution of stroke in awake rats
Authors: Palopoli-Trojani Kay , Trumpis Michael , Chiang Chia-Han , Wang Charles , Williams Ashley J. , Evans Cody L. , Turner Dennis A. , Viventi Jonathan , Hoffmann Ulrike 
Published: March 2024

AbstractSpreading depolarizations (SDs) are widely recognized as a major contributor to the progression of tissue damage from ischemic stroke even if blood flow can be restored. They are characterized by negative intracortical waveforms of up to -20 mV, propagation velocities of 3 - 6 mm/min, and massive disturbance of membrane ion homeostasis. High-density, micro-electrocorticographic (μECoG) epidural electrodes and custom, DC-coupled, multiplexed amplifiers, were used to continuously characterize and monitor SD and µECoG cortical signal evolution in awake, moving rats over days. This highly innovative approach can define these events over a large brain surface area (~ 3.4 × 3.4 mm), extending across the boundaries of the stroke, and offers sufficient electrode density (60 contacts total per array for a density of 5.7 electrodes / mm2) to measure and determine the origin of SDs in relation to the infarct boundaries. In addition, spontaneous ECoG activity can simultaneously be detected to further define cortical infarct regions. This technology allows us to understand dynamic stroke evolution and provides immediate cortical functional activity over days. Further translational development of this approach may facilitate improved treatment options for acute stroke patients.
An array of signal-specific MoYpd1 isoforms determines full virulence in the pathogenic fungus Magnaporthe oryzae
Authors: Bühring Sri , Brunner Antonia , Heeb Klemens , Mergard Marius-Peter , Schmauck Greta , Jacob Stefan 
Published: March 2024

AbstractMagnaporthe oryzae is placed first on a list of the world’s top ten plant pathogens with the highest scientific and economic importance. The locus MGG_07173 occurs only once in the genome of M. oryzae and encodes the phosphotransfer protein MoYpd1p, which plays an important role in the high osmolarity glycerol (HOG) signaling pathway for osmoregulation. Originating from this locus, at least three MoYPD1 isoforms are produced in a signal-specific manner. The transcript levels of these MoYPD1-isoforms were individually affected by external stress. Salt (KCI) stress raised MoYPD1_T0 abundance, whereas osmotic stress by sorbitol elevates MoYPD1_T1 levels. In line with this, signal-specific nuclear translocation of green fluorescent protein-fused MoYpd1p isoforms in response to stress was observed. Mutant strains that produce only one of the MoYpd1p isoforms are less virulent, suggesting a combination thereof is required to invade the host successfully. In summary, we demonstrate signal-specific production of MoYpd1p isoforms that individually increase signal diversity and orchestrate virulence in M. oryzae.
Dynamical onset of light-induced unconventional superconductivity—a Yukawa-Sachdev-Ye-Kitaev study
Authors: Grunwald Lukas , Passetti Giacomo , Kennes Dante M. 
Published: March 2024

AbstractUsing light irradiation to manipulate quantum materials has opened up avenues for transiently inducing superconductivity in some systems. Despite experimental confirmation across various compounds, the mechanism behind the dynamic formation of Cooper pairs remains highly debated, in part due to the strong electronic correlations at play, which pose challenges for theoretical investigations relying on perturbative or phenomenological approaches. Here, we investigate the dynamical onset of superconductivity in the strongly correlated, yet exactly solvable Yukawa-Sachdev-Ye-Kitaev model. Analyzing dynamical protocols motivated by theoretical mechanisms proposed for light-induced superconductivity, that is light-induced cooling and the dressing of Hamiltonian parameters, we investigate the exact relaxation resulting out of undercooling and interaction quenches. While, in contrast to BCS theory, it is not possible for superconductivity to emerge following interaction quenches across the superconducting phase transition, we find that the dynamical relaxation of undercooled states universally leads to superconductivity. Despite the strong correlations, the emerging order parameter dynamics are well captured by a coarse grained Ginzburg-Landau theory. Our study provides an integral stepping stone towards exploring light-induced superconductivity in strongly correlated systems in a theoretically controlled way.
Young volcanic terrains are windows into early microbial colonization
Authors: Hadland Nathan , Hamilton Christopher W. , Duhamel Solange 
Published: March 2024

AbstractVolcanic eruptions generate initially sterile materials where biological processes are absent, allowing for the fresh colonization by new organisms. This review summarizes the characteristics of volcanic habitats that are available for pioneer microbial colonization, including hot springs, fumaroles, lava tubes, and recently cooled rock surfaces and interiors. Eruptions provide unique insight into microbial community development in extreme environments. The trajectories that these ecosystems follow are largely dictated by the initial environmental conditions and identities of the colonizers, rather than the age of the system. The review also discusses how studies of microbial communities in young lava flow fields can provide insights into the possibility of life on Mars, which was volcanically and hydrologically active in the past. Understanding biosignature preservation as well as the metabolisms and survival mechanisms of microorganisms in volcanic systems has implications for how an ecosystem might have developed on early Earth and possibly Mars.
Identification of plants’ functional counterpart of the metazoan mediator of DNA Damage checkpoint 1
Authors: Lorković Zdravko J , Klingenbrunner Michael , Cho Chung Hyun , Berger Frédéric 
Published: March 2024

AbstractInduction of DNA damage triggers rapid phosphorylation of the histone H2A.X (γH2A.X). In animals, mediator of DNA damage checkpoint 1 (MDC1) binds γH2A.X through a tandem BRCA1 carboxyl-terminal (tBRCT) domain and mediates recruitment of downstream effectors of DNA damage response (DDR). However, readers of this modification in plants have remained elusive. We show that from the Arabidopsis BRCT domain proteome, BCP1-4 proteins with tBRCT domains are involved in DDR. Through its tBRCT domain BCP4 binds γH2A.X in vitro and localizes to DNA damage-induced foci in an H2A.X-dependent manner. BCP4 also contains a domain that interacts directly with NBS1 and thus acts as a functional counterpart of MDC1. We also show that BCP1, that contains two tBRCT domains, co-localizes with γH2A.X but it does not bind γH2A.X suggesting functional similarity with human PAXIP1. A phylogenetic analysis supports that PAXIP1 and MDC1 in metazoa and their plant counterparts evolved independently from common ancestors with tBRCT domains. Collectively, our study reveals missing components and provides mechanistic and evolutionary insights into plant DDR.
Contribution of Wireless Wi-Fi Intraoral Cameras to the Assessment of Swallowing Safety and Efficiency
Authors: Vergara José , Miles Anna , Lopes de Moraes Juliana , Chone Carlos Takahiro 
Published: March 2024

Background:
Clinical evaluation of swallowing provides important clinical information but is limited in detecting penetration, aspiration, and pharyngeal residue in patients with suspected dysphagia. Although this is an old problem, there remains limited access to low-cost methods to evaluate swallowing safety and efficiency.

Purpose:
The purpose of this technical report is to describe the experience of a single center that recently began using a wireless Wi-Fi intraoral camera for transoral endoscopic procedures as an adjunct to clinical swallowing evaluation. We describe the theoretical structure of this new clinical evaluation proposal. We present descriptive findings on its diagnostic performance in relation to videofluoroscopic swallowing study as the gold standard in a cohort of seven patients with dysphagia following head and neck cancer. We provide quantitative data on intra- and interrater reliability. Furthermore, this report discusses how this technology can be applied in the clinical practice of professionals who treat patients with dysphagia and provides directions for future research.

Conclusions:
This preliminary retrospective study suggests that intraoral cameras can reveal the accumulated oropharyngeal secretions and postswallow pharyngolaryngeal residue in patients with suspected dysphagia. Future large-scale studies focusing on validating and exploring this contemporary low-cost technology as part of a clinical swallowing evaluation are warranted.
Revealing the characteristics of the dark GRB 150309A: Dust extinguished or high-z?
Authors: Castro-Tirado A. J. , Gupta R. , Pandey S. B. , Nicuesa Guelbenzu A. , Eikenberry S. , Ackley K. , Gerarts A. , Valeev A. F. , Jeong S. , Park I. H. , Oates S. R. , Zhang B.-B. , Sánchez-Ramírez R. , Martín-Carrillo A. , Tello J. C. , Jelínek M. , Hu Y.-D. , Cunniffe R. , Sokolov V. V. , Guziy S. , Ferrero P. , Caballero-García M. D. , Ror A. K. , Aryan A. , Castro Tirado M. A. , Fernández-García E. , Gritsevich M. , Olivares I. , Pérez-García I. , Castro Cerón J. M. , Cepa J. 
Published: March 2024

Context. Dark gamma-ray bursts (GRBs) constitute a significant fraction of the GRB population. In this paper, we present a multi-wavelength analysis (both prompt emission and afterglow) of an intense (3.98  ×  10−5 erg cm−2 using Fermi-Gamma-Ray Burst Monitor) two-episodic GRB 150309A observed early on until ∼114 days post burst. Despite the strong gamma-ray emission, no optical afterglow was detected for this burst. However, we discovered near-infrared (NIR) afterglow (KS-band), ∼5.2 h post burst, with the CIRCE instrument mounted at the 10.4 m Gran Telescopio Canarias (hereafter, GTC).
Aims. We aim to examine the characteristics of GRB 150309A as a dark burst and to constrain other properties using multi-wavelength observations.
Methods. We used Fermi observations of GRB 150309A to understand the prompt emission mechanisms and jet composition. We performed early optical observations using the BOOTES robotic telescope and late-time afterglow observations using the GTC. A potential faint host galaxy was also detected in the optical wavelength using the GTC. We modelled the potential host galaxy of GRB 150309A in order to explore the environment of the burst.
Results. The time-resolved spectral analysis of Fermi data indicates a hybrid jet composition consisting of a matter-dominated fireball and magnetic-dominated Poynting flux. The GTC observations of the afterglow revealed that the counterpart of GRB 150309A was very red, with H − KS > 2.1 mag (95% confidence). The red counterpart was not discovered in any bluer filters of Swift UVOT/BOOTES, which would be indicative of a high redshift origin. Therefore we discarded this possibility based on multiple arguments, such as spectral analysis of the X-ray afterglow constrain z < 4.15 and a moderate redshift value obtained using the spectral energy distribution (SED) modelling of the potential galaxy. The broadband (X-ray to NIR bands) afterglow SED implies a very dusty host galaxy with a deeply embedded GRB (suggesting AV ≳ 35 mag).
Conclusions. The environment of GRB 150309A demands a high extinction towards the line of sight. Demanding dust obscuration is the most probable origin of optical darkness as well as the very red afterglow of GRB 150309A. This result establishes GRB 150309A as the most extinguished GRB known to date.
The COSMOS-Web ring: In-depth characterization of an Einstein ring lensing system at z ∼ 2
Authors: Mercier W. , Shuntov M. , Gavazzi R. , Nightingale J. W. , Arango R. , Ilbert O. , Amvrosiadis A. , Ciesla L. , Casey C. M. , Jin S. , Faisst A. L. , Andika I. T. , Drakos N. E. , Enia A. , Franco M. , Gillman S. , Gozaliasl G. , Hayward C. C. , Huertas-Company M. , Kartaltepe J. S. , Koekemoer A. M. , Laigle C. , Le Borgne D. , Magdis G. , Mahler G. , Maraston C. , Martin C. L. , Massey R. , McCracken H. J. , Moutard T. , Paquereau L. , Rhodes J. D. , Robertson B. E. , Sanders D. B. , Toft S. , Trebitsch M. , Tresse L. , Vijayan A. P. 
Published: March 2024

Aims. We provide an in-depth analysis of the COSMOS-Web ring, an Einstein ring at z ≈ 2 that we serendipitously discovered during the data reduction of the COSMOS-Web survey and that could be the most distant lens discovered to date.
Methods. We extracted the visible and near-infrared photometry of the source and the lens from more than 25 bands. We combined these observations with far-infrared detections to study the dusty nature of the source and we derived the photometric redshifts and physical properties of both the lens and the source with three different spectral energy distribution (SED) fitting codes. Using JWST/NIRCam images, we also produced two lens models to (i) recover the total mass of the lens, (ii) derive the magnification of the system, (iii) reconstruct the morphology of the lensed source, and (iv) measure the slope of the total mass density profile of the lens.
Results. We find the lens to be a very massive elliptical galaxy at z = 2.02 ± 0.02 with a total mass within the Einstein radius of Mtot(<θEin = (3.66 ± 0.36) × 1011 M⊙ and a total stellar mass of M⋆ = 1.37−0.11+0.14 × 1011 M⊙. We also estimate it to be compact and quiescent with a specific star formation rate below 10−13 yr. Compared to stellar-to-halo mass relations from the literature, we find that the total mass of the lens within the Einstein radius is consistent with the presence of a dark matter (DM) halo of total mass Mh = 1.09−0.57+1.46 × 1013 M⊙. In addition, the background source is a M⋆ = (1.26 ± 0.17) × 1010 M⊙ star-forming galaxy (SFR ≈ (78 ± 15) M⊙ yr) at z = 5.48 ± 0.06. The morphology reconstructed in the source plane shows two clear components with different colors. Dust attenuation values from SED fitting and nearby detections in the far infrared also suggest that the background source could be at least partially dust-obscured.
Conclusions. We find the lens at z ≈ 2. Its total, stellar, and DM halo masses are consistent within the Einstein ring, so we do not need any unexpected changes in our description of the lens such as changing its initial mass function or including a non-negligible gas contribution. The most likely solution for the lensed source is at z ≈ 5.5. Its reconstructed morphology is complex and highly wavelength dependent, possibly because it is a merger or a main sequence galaxy with a heterogeneous dust distribution.
Bacteriological and Antimicrobial Susceptibility Profile in Biliary Tract Infections: A Retrospective Study
Authors: Gupta Veenu , Gupta Rama , Aggarwal Manisha , Singh Satpal , Kaur Harpreet , Chaudhary Jyoti , Gupta Menal , Singla Saurabh , Kaur Harmandeep 
Published: March 2024

Introduction In the past few years, although there has been no change in the bacteriological profile of organisms responsible for biliary tract infections (BTIs), changes in the drug susceptibility pattern of these organisms have been reported.Material and Methods We planned a retrospective study to evaluate the microbiological profile and antibiotic susceptibility patterns of isolates from patients with BTI.The study was conducted in the Department of Microbiology over a period of 1 year. We recorded the culture positivity rates, organisms identified, and the pattern of antibiotic susceptibility.Results Out of 226 bile samples received, 60.2% samples were found to be culture positive. Most of the patients were older than 40 years. Hypertension (33.1%), diabetes (28.7%), and cardiovascular diseases (8.1%) were the common underlying diseases. Common patient symptoms were abdominal pain (77.89%), jaundice (42.24%), and fever (41.52%). Cholangitis was present in 20.6% patients. Cholelithiasis or choledocholithiasis was the most common underlying etiology (39%). A total of 142 isolates were obtained, with most patients with a predominance of gram-negative isolates. Tigecycline and aminoglycosides were found to be effective against gram-negative isolates with a susceptibility of 93.4 and 95.7%, respectively. Of the gram-negative isolates, approximately 70% were multidrug resistant (MDR), with approximately 80 and 75% being extended spectrum beta-lactamases (ESBLs) and carbapenemase producers, respectively. Enterococci were 100% susceptible to linezolid and 25% of these were vancomycin-resistant enterococci (VRE).Conclusion In summary, the predominant bacteria in our study were gram-negative bacteria that showed increased resistance to cephalosporins and carbapenems. This makes the treatment of bile duct infections increasingly difficult. A comprehensive analysis of the bacterial distribution and drug resistance profiles in patients with BTIs helps physicians to make better antibiotic policies for empiric treatment.
The impact of push-pull motives on internal tourists’ visit and revisit intentions to Egyptian domestic destinations: the mediating role of country image
Authors: Ayoub Doaa , Mohamed Dina Nasser Hassan Sayed 
Published: March 2024

AbstractPurpose-The purpose of this study is to investigate the impact of the push motivational factors (rest & relaxation, enhancing the ego, and novelty & knowledge-seeking) and pull motivational factors (tourism facilities, environment & safety, and cultural & historical attraction) on internal tourists’ visit and revisit intentions to a domestic destination in Egypt. It also tested the mediation role of the country image in the relationship between the independent variables (push & pull motives) and the dependent variables (visit & revisit intentions). This study provides novelty for the context of travel motivation, especially in a global crisis like Corona and highlight the limited literature regarding the Arab context, especially Egypt. Data were collected using an online survey of internal tourists to test the proposed model empirically using structured questions. Structural equation model (SEM) was developed to test the research hypotheses with a sample of 349. The findings indicate that all the research hypotheses were statistically supported, except for the associations between rest-and-relaxation, tourism facilities and the internal tourists’ visit intention to a destination in Egypt.
Engaging disadvantaged students in a Chinese as a Foreign Language classroom: Bernstein’s pedagogic discourse as a bridge
Authors: Xu Wen 
Published: March 2024

AbstractThis study is part of practitioner inquiry undertaken in an underprivileged, low-achieving primary school in Sydney, Australia, based in a Chinese as a Foreign Language (CFL) classroom with 9–10-year-olds. The aim was to unpack pedagogic discourse at the micro level of interactions, while delving into students’ perceptions of language learning experiences. Two data sources were used: an audio recording of lessons and students’ focus groups. By applying Bernstein’s pedagogic discourse and Fair Go Project’s (FGP) engagement framework, the findings reveal that consistently shifting pedagogic discourses were likely to overcome students’ social backgrounds and offer them engaging CFL learning experiences. The study makes an original contribution to providing CFL practitioners and pre-service teachers with a delicate, precise language to plan and chart courses, while guiding disadvantaged students through pedagogic mazes. This paper concludes with pedagogic implications for the social inclusion agenda.
Identification of local structures in water from supercooled to ambient conditions
Authors: Foffi Riccardo , Sciortino Francesco 
Published: March 2024

Studies of water thermodynamics have long been tied to the identification of two distinct families of local structures, whose competition could explain the origin of the many thermodynamic anomalies and the hypothesized liquid–liquid critical point in water. Despite the many successes and insights gained, the structural indicators proposed throughout the years were not able to unequivocally identify these two families over a wide range of conditions. We show that a recently introduced indicator, Ψ, which exploits information on the hydrogen bond network connectivity, can reliably identify these two distinct local environments over a wide range of thermodynamic conditions (188–300 K and 0–13 kbar) and that close to the liquid–liquid critical point, the spatial correlations of density fluctuations are identical to those of the Ψ indicator. Our results strongly support the idea that water thermodynamic properties arise from the competition between two distinct and identifiable local environments.