bluuebunny/crossref_metadata_2025 huggingface dataset:
ResACEUnet: An Improved Transformer Unet Model for 3D Seismic Fault Detection
Authors: Zu Shaohuan , Zhao Penghui , Ke Chaofan , Junxing Cao
Published: June 2024

Detecting fault constitutes a pivotal aspect of seismic interpretation, significantly influencing the outcomes of petroleum and gas exploration. As artificial intelligence advances, convolutional neural network (CNN) has proven effective in detecting faults in seismic interpretation. Nevertheless, the receptive field of a convolutional layer within CNN is inherently limited, focusing on extracting local features, which lead to the detection of fewer and discontinuous fault features. In this study, integrating the local feature extraction capabilities of CNN with the global feature extraction prowess of transformer, we proposed a U‐shaped hybrid architecture model named ResACEUnet (Attention‐Convolution Unet with Efficient block) to detect fault of three‐dimensional (3D) seismic data. In ResACEUnet, we introduced a module called ACE block, which integrates convolution and attention mechanisms. This module enabled the model to simultaneously extract local features and model global contextual information, capturing more accurate fault features. In addition, we utilized a joint loss function named BCEDice loss, which composed of BCE (binary cross‐entropy) loss and dice loss to tackle the challenge of imbalanced positive and negative samples. The model was trained on a synthetic data set, with a range of data augmentation techniques were employed to bolster its generalization capabilities and robustness. We implemented our proposed method on the offshore F3 seismic data from the Netherlands and seismic data from Kerry3D and Parihaka in New Zealand. Compared to conventional popular models such as Unet, ResUnet, and SwinUnetR, ResACEUnet demonstrated superior capabilities in capturing more features and identifying fault with higher accuracy and continuity.
Heterodimensional Kondo superlattices with strong anisotropy
Authors: Feng Qi , Duan Junxi , Wang Ping , Jiang Wei , Peng Huimin , Zhong Jinrui , Cao Jin , Hu Yuqing , Li Qiuli , Wang Qinsheng , Zhou Jiadong , Yao Yugui
Published: June 2024

Localized magnetic moments in non-magnetic materials, by interacting with the itinerary electrons, can profoundly change the metallic properties, developing various correlated phenomena such as the Kondo effect, heavy fermion, and unconventional superconductivity. In most Kondo systems, the localized moments are introduced through magnetic impurities. However, the intrinsic magnetic properties of materials can also be modulated by the dimensionality. Here, we report the observation of Kondo effect in a heterodimensional superlattice VS2-VS, in which arrays of the one-dimensional (1D) VS chains are encapsulated by two-dimensional VS2 layers. In such a heterodimensional Kondo superlattice, we observe the typical Kondo effect but with intriguing anisotropic field dependence. This unique anisotropy is determined to originate from the magnetic anisotropy which has the root in the unique 1D chains in the structure, as corroborated by the first-principles calculation. Our results open up a novel avenue of studying exotic correlated physics in heterodimensional materials.
A broadly generalizable stabilization strategy for sarbecovirus fusion machinery vaccines
Authors: Lee Jimin , Stewart Cameron , Schäfer Alexandra , Leaf Elizabeth M. , Park Young-Jun , Asarnow Daniel , Powers John M. , Treichel Catherine , Sprouse Kaitlin R. , Corti Davide , Baric Ralph , King Neil P. , Veesler David
Published: June 2024

Evolution of SARS-CoV-2 alters the antigenicity of the immunodominant spike (S) receptor-binding domain and N-terminal domain, undermining the efficacy of vaccines and antibody therapies. To overcome this challenge, we set out to develop a vaccine focusing antibody responses on the highly conserved but metastable S2 subunit, which folds as a spring-loaded fusion machinery. We describe a strategy for prefusion-stabilization and high yield recombinant production of SARS-CoV-2 S2 trimers with native structure and antigenicity. We demonstrate that our design strategy is broadly generalizable to sarbecoviruses, as exemplified with the SARS-CoV-1 (clade 1a) and PRD-0038 (clade 3) S2 subunits. Immunization of mice with a prefusion-stabilized SARS-CoV-2 S2 trimer elicits broadly reactive sarbecovirus antibodies and neutralizing antibody titers of comparable magnitude against Wuhan-Hu-1 and the immune evasive XBB.1.5 variant. Vaccinated mice were protected from weight loss and disease upon challenge with XBB.1.5, providing proof-of-principle for fusion machinery sarbecovirus vaccines.
Pulsed laser induced plasma and thermal effects on molybdenum carbide for dry reforming of methane
Authors: Li Yue , Liu Xingwu , Wu Tong , Zhang Xiangzhou , Han Hecheng , Liu Xiaoyu , Chen Yuke , Tang Zhenfei , Liu Zhen , Zhang Yuhai , Liu Hong , Zhao Lili , Ma Ding , Zhou Weijia
Published: June 2024

Dry reforming of methane (DRM) is a highly endothermic process, with its development hindered by the harsh thermocatalytic conditions required. We propose an innovative DRM approach utilizing a 16 W pulsed laser in combination with a cost-effective Mo2C catalyst, enabling DRM under milder conditions. The pulsed laser serves a dual function by inducing localized high temperatures and generating *CH plasma on the Mo2C surface. This activates CH4 and CO2, significantly accelerating the DRM reaction. Notably, the laser directly generates *CH plasma from CH4 through thermionic emission and cascade ionization, bypassing the traditional step-by-step dehydrogenation process and eliminating the rate-limiting step of methane cracking. This method maintains a carbon-oxygen balanced environment, thus preventing the deactivation of the Mo2C catalyst due to CO2 oxidation. The laser-catalytic DRM achieves high yields of H2 (14300.8 mmol h−1 g−1) and CO (14949.9 mmol h−1 g−1) with satisfactory energy efficiency (0.98 mmol kJ−1), providing a promising alternative for high-energy-consuming catalytic systems.
Inter-cell type interactions that control JNK signaling in the Drosophila intestine
Authors: Zhang Peng , Pronovost Stephen M. , Marchetti Marco , Zhang Chenge , Kang Xiaoyu , Kandelouei Tahmineh , Li Christopher , Edgar Bruce A.
Published: June 2024

JNK signaling is a critical regulator of inflammation and regeneration, but how it is controlled in specific tissue contexts remains unclear. Here we show that, in the Drosophila intestine, the TNF-type ligand, Eiger (Egr), is expressed exclusively by intestinal stem cells (ISCs) and enteroblasts (EBs), where it is induced by stress and during aging. Egr preferentially activates JNK signaling in a paracrine fashion in differentiated enterocytes (ECs) via its receptor, Grindelwald (Grnd). N-glycosylation genes (Alg3, Alg9) restrain this activation, and stress-induced downregulation of Alg3 and Alg9 correlates with JNK activation, suggesting a regulatory switch. JNK activity in ECs induces expression of the intermembrane protease Rhomboid (Rho), driving secretion of EGFR ligands Keren (Krn) and Spitz (Spi), which in turn activate EGFR signaling in progenitor cells (ISCs and EBs) to stimulate their growth and division, as well as to produce more Egr. This study uncovers an N-glycosylation-controlled, paracrine JNK-EGFR-JNK feedforward loop that sustains ISC proliferation during stress-induced gut regeneration.
Detection of hidden antibiotic resistance through real-time genomics
Authors: Sauerborn Ela , Corredor Nancy Carolina , Reska Tim , Perlas Albert , Vargas da Fonseca Atum Samir , Goldman Nick , Wantia Nina , Prazeres da Costa Clarissa , Foster-Nyarko Ebenezer , Urban Lara
Published: June 2024

Real-time genomics through nanopore sequencing holds the promise of fast antibiotic resistance prediction directly in the clinical setting. However, concerns about the accuracy of genomics-based resistance predictions persist, particularly when compared to traditional, clinically established diagnostic methods. Here, we leverage the case of a multi-drug resistant Klebsiella pneumoniae infection to demonstrate how real-time genomics can enhance the accuracy of antibiotic resistance profiling in complex infection scenarios. Our results show that unlike established diagnostics, nanopore sequencing data analysis can accurately detect low-abundance plasmid-mediated resistance, which often remains undetected by conventional methods. This capability has direct implications for clinical practice, where such “hidden” resistance profiles can critically influence treatment decisions. Consequently, the rapid, in situ application of real-time genomics holds significant promise for improving clinical decision-making and patient outcomes.
Uncovering the antiinflammatory potential of Lactiplantibacillus Plantarum fermented Cannabis Sativa L seeds
Authors: Shan LingYue , Tyagi Akanksha , Ham Hun-Ju , Oh Deog Hwan
Published: June 2024

Inflammation acts as a dual role in disease initiation and progression, while Cannabis sativa L. (hemp) seeds, known for their abundance of anti-inflammatory phytochemicals, present a promising food source. Additionally, fermentation may optimize the food matrix, thereby augmenting its developmental prospects. This study explores the anti-inflammatory potential of hemp seeds fermented with 10 different probiotic strains. Among these, Lactiplantibacillus plantarum fermented hemp seeds (FHS) demonstrated a significant anti-inflammatory ability, accompanied by a reduction in the expression of critical inflammatory markers such as TLR4, NF-κBp65, and iNOS. Moreover, there is a noteworthy dose-dependent inhibition of inflammatory cytokines TNF-α, IL-6, IL-1β, and NO within a concentration range of 50 to 500 µg/mL. Subsequently, metabolomics analysis using UHPLC-QTOF-MS highlighted significant metabolic alterations in FHS compared to raw hemp seeds (RHS). Through multivariate, univariate, and correlation analyses, indolelactic acid (IA) and homovanillic acid (HVA) emerged as the main anti-inflammatory metabolites in FHS. Validation via HPLC confirmed the concentration of IA and HVA in RHS and FHS and both organic acids demonstrated lower IC50 values for TNF-α, IL-1β, IL-6, IL-18, and NO inhibition, showcasing their potent anti-inflammatory abilities. Furthermore, in vitro gastro-intestinal digestion coupled with the Caco-2 cell monolayer model validates the uptake and bioaccessibility of FHS, further affirming IA and HVA as major anti-inflammatory compounds. Overall, this research sets the stage for the development of novel hemp seed-based products targeting inflammation-associated disorders.
Molecular-level hybridization of single-walled carbon nanotubes and a copper complex with counterbalanced electrostatic interactions
Authors: Kim Mi-Jeong , Kim Hyeonbeom , Kim Jungmo , Lee Yeo Jin , Lee Wonki , Hwang Jun Yeon , Kim Ki Kang , Jeong Hee Jin
Published: June 2024

Hybridization and wet processibility are highly desired development strategies for next-generation nanomaterials. In particular, the hybridization of carbon nanotubes (CNTs) and transition metals has been investigated for decades owing to the numerous advantages, such as high mechanical and electrical properties. However, manufacturing nano-hybridized CNTs/transition metals is complicated, and no studies have been reported on the dispersion and hybridization of transition metals with single-walled CNTs (SWCNTs) without any harsh or destructive methods due to the strong van der Waals forces. Herein, we demonstrate a one-step dispersion/hybridization of SWCNTs and a Cu-based complex and provide a mechanism derives from counterbalancing the electrostatic interactions via molecular-level charge transfer. The Cu-based complex-hybridized SWCNTs self-assemble and demonstrate suitable viscoelastic behaviors for various printing or coating processes. Finally, the nanostructured SWCNTs/Cu nanoparticle exhibits multifunctional electrothermal properties, electromagnetic interference shielding performances, and flexibilities. The proposed metal-complex-hybridized SWCNTs dispersions provide a wet process guideline for producing nanostructured electrodes.
Unraveling the effects of geometrical parameters on dynamic impact responses of graphene reinforced polymer nanocomposites using coarse-grained molecular dynamics simulations
Authors: Cui Jianzheng , Zeng Fanlin , Wei Dahai , Wang Youshan
Published: June 2024

This work reveals the reinforcing and toughening mechanism of nacre-inspired graphene/natural rubber nanocomposites using coarse-grained molecular dynamics simulations.
Tailoring single-ion magnet properties of coordination polymer C11H18DyN3O9 (Dy-CP) using the radial effective charge model (RECM) and superposition model (SPM)
Authors: Halder Dinabandhu , Jana Yatramohan , Piwowarska Danuta , Gnutek Paweł , Rudowicz Czesław
Published: June 2024

(a) Crystal structure of C11H18DyN3O9 (Dy-CP); (b) Predicted energy levels of the Dy3+ ion as a function of their effective magnetic moment and possible relaxation paths in Dy-CP.
Shift of the reduction potential of nickel(ii) Schiff base complexes in the presence of redox innocent metal ions
Authors: Bhunia Pradip , Gomila Rosa M. , Frontera Antonio , Ghosh Ashutosh
Published: June 2024

Apart from the Lewis acidity of redox-inactive metal ions,  the local electric field, especially for bivalent metal ions, and the size of the chelate ring formed by the ligand can also impact the  reduction potential of NI(ii/i) pair.
A report on arsenic removal from water via adsorption of an arsenomolybdate complex on S–CuFe2O4 adsorbents
Authors: Hussain Ejaz , Sultana Meryam , Abid Muhammad Zeeshan , Buzdar Aqsa Khan , Thabet Hamdy Khamees , El-Bahy Salah M. , Jalil Muhammad , Rauf Abdul , El-Bahy Zeinhom M. , Rafiq Khezina
Published: June 2024

Ground drinking water in many areas of Pakistan is contaminated by dissolved arsenic contents This work aims to estimate and eliminate the arsenic contents from the ground water used for drinking purpose in Layyah district (Punjab – PK).
A disposal-MOX concept for plutonium disposition
Authors: Cole Max R. , Blackburn Lewis R. , Haigh Latham T. , Bailey Daniel J. , Townsend Luke T. , Kvashnina Kristina O. , Hyatt Neil C. , Corkhill Claire L.
Published: June 2024

The feasibility of disposal-MOX as a ceramic wasteform for inventories of separated civil PuO2 is demonstrated via two fabrication routes. Both use Th4+ as a surrogate for Pu4+, and Gd3+ is incorporated for criticality control.
Recent advances in sialic acid-based active targeting chemoimmunotherapy promoting tumor shedding: a systematic review
Authors: Zhao Jingyi , Zhang Kunfeng , Sui Dezhi , Wang Shuo , Li Yantong , Tang Xueying , Liu Xinrong , Song Yanzhi , Deng Yihui
Published: June 2024

Sialic acid-based active targeting chemoimmunotherapy utilizes the recognition between SA-modified preparations and SA-binding receptors on tumor-associated immune cells to deliver drugs, like a “Trojan horse”.
Direct Ink writing of high conductive PEDOT:PSS dispersion with an engineered conformation and electronic structure for printed electronic circuits
Authors: Raeesi Maryam , Alinejad Zeinab , Salehi-Mobarakeh Hamid , Mahdavian Ali Reza
Published: June 2024

PEDOT:PSS dispersions with engineered conformation and electronic structure are obtained by controlling polymerization parameters. Outstanding electrical conductivity makes them promising candidates for conductive inks in printed electronic circuits.
Developing piezochromic luminescent materials via regioselective cyanation of naphthalimide–cyanostilbene derivatives
Authors: Jia Hao , Sun Xuening , Meng Xinmiao , Wu Min , Li Aisen , Yang Miao , Wang Chengyuan , Yang Jiaxiang , Wang Kai , Li Qian , Li Lei
Published: June 2024

A novel series of piezochromic luminescent materials are designed and the piezochromic phenomenon is successfully promoted by regioselective cyanation.
Catalytic reduction of trifluoromethylated alkyl bromides and synthesis of alkylated heterocycles under visible light irradiation: synergetic action of a halogen bond and Ni catalysis
Authors: Wang Gai-Rong , Guo Peng , Pu Guoliang , Wang Pan , Wang An-Jun , Liu Peijun , Jia Jia , Li Xuefei , He Chun-Yang
Published: June 2024

The concurrent reduction of α-trifluoromethyl alkyl bromides and the cross-coupling of THF with heterocycles in one pot have been realized through synergetic action of a halogen bond and Ni catalysis.
Metal–organic frameworks and their derivatives for the electrochemical CO2 reduction reaction: insights from molecular engineering
Authors: Liu Xiaoming , Liu Xuan-He , Zhang Xiangrui , Wang Huan , Zhao Qinglan
Published: June 2024

Molecular engineering of MOF-based electrocatalysts for the CO2RR, computational simulations, and advanced characterization studies are discussed and summarized to illustrate the correlation between their structure and performance.
The role of zwitterionic crosslinks in facilitating ion conduction, lithium deposition, and stable interface formation for polymer electrolyte-based lithium metal batteries
Authors: Chai Liang , Zou Zhiheng , Yang Zhengsheng , Yang Guang
Published: June 2024

A zwitterionic gel electrolyte can regulate the flux distribution of lithium ions to achieve the stability of the interface with lithium metal.
Structural engineering of mitochondria-targeted Au–Ag2S photosensitizers for enhanced photodynamic and photothermal therapy
Authors: Ma Ruofei , Zhang Qi , Wang Yue , Xu Zhangrun
Published: June 2024

Continuously tunable Au–Ag2S nanoparticles were synthesized to investigate the morphology-induced photodynamic therapy and photothermal therapy performance by SERS.
Exploring the potential of lanthanide-doped oxyfluoride materials for bright green upconversion and their promising applications towards temperature sensing and drug delivery
Authors: Mohanty Sonali , Lederer Mirijam , Premcheska Simona , Rijckaert Hannes , De Buysser Klaartje , Bruneel Els , Skirtach Andre , Van Hecke Kristof , Kaczmarek Anna M.
Published: June 2024

Enhanced green emission in YOF:Yb3+,Er3+ particles, achieved through metal ion co-doping, holds potential for thermometry. Toxicity assessments on NHDFs explore their suitability for drug delivery.
Perovskite single pixel imaging exceeding the visible towards X-ray and THz
Authors: Wang Xuanqi , Ren Lizhi , Zong Huiyi , Wu Congcong , Qian Jin , Wang Kai
Published: June 2024

Perovskite-based single-pixel imaging offers a promising alternative to traditional multi-pixel arrays, potentially revolutionizing imaging technologies for hyperspectral and remote sensing applications.
Configuration and operation model for integrated energy power station considering energy storage
Authors: Li Qingxin , Shi Ming , Xie Yaoze , Zheng Linfeng
Published: June 2024

Large‐scale integration of renewable energy in China has had a major impact on the balance of supply and demand in the power system. It is crucial to integrate energy storage devices within wind power and photovoltaic (PV) stations to effectively manage the impact of large‐scale renewable energy generation on power balance and grid reliability. However, existing studies have not modelled the complex coupling between different types of power sources within a station. This article first analyses the costs and benefits of integrated wind–PV‐storage power stations. Considering the lifespan loss of energy storage, a two‐stage model for the configuration and operation of an integrated power station system is established to maximize the daily average net profit of the station. Furthermore, simulation is done to obtain the optimal configuration for integrated wind–PV‐storage power stations. The results indicate that considering the lifespan loss of storage can enhance the integration of renewable energy. It also improves the charging and discharging strategies of storage devices, extending their actual lifespan from 4.93 to 7.79 years and increasing the investment return rate of the station by 2.4%.
Adaptive identification of critical nodes for fault‐on voltage support in islanded microgrids
Authors: Cao Shiran , Zhu Lipeng , Li Jiayong , Huang Wen , He Lili , Zhang Wei , Zhao Huimin , Shuai Zhikang
Published: June 2024

The shedding of critical distributed energy resources during faults in an islanded microgrid may induce widespread voltage drops, potentially triggering a cascade of reactions leading to the collapse of the entire system. Accurately identifying critical nodes is the key technology to improve the resilience of microgrids. However, multi‐source coupling and the uncertainty in fault‐induced voltage sag can diminish the accuracy of node importance identification. To address this, this paper proposes an adaptive node identification method designed for quick and accurate identification of nodes that cope with various fault scenarios. This method introduces an index for evaluating voltage support capability based on the equivalent voltage drop range. This index adapts to fault uncertainty while integrating electrical parameters with spatial position. Furthermore, a higher‐order transition matrix reconstruction strategy with power propagation characteristics is proposed to reduce the higher‐order complexities arising from remote end faults' current flowing path length. Ultimately, the transition matrix is optimized by integrating it with the PageRank algorithm and highlighting the importance of source nodes. The proposed method is validated by numerical computation and time‐domain simulation results in a benchmark test microgrid, demonstrating its remarkable identification accuracy in a variety of fault scenarios.
Artificial Intelligence applications in Noise Radar Technology
Authors: Sénica Afonso L. , Marques Paulo A. C. , Figueiredo Mário A. T.
Published: June 2024

Radar systems are a topic of great interest, especially due to their extensive range of applications and ability to operate in all weather conditions. Modern radars have high requirements such as its resolution, accuracy and robustness, depending on the application. Noise Radar Technology (NRT) has the upper hand when compared to conventional radar technology in several characteristics. Its robustness to jamming, low Mutual Interference and low probability of intercept are good examples of these advantages. However, its signal processing is more complex than that associated to a conventional radar. Artificial Intelligence (AI)‐based signal processing is getting increasing attention from the research community. However, there is yet not much research on these methods for noise radar signal processing. The aim of the authors is to provide general information regarding the research performed on radar systems using AI and draw conclusions about the future of AI in noise radar. The authors introduce the use of AI‐based algorithms for NRT and provide results for its use.
A comparative analysis of different transmission line fault detectors and classifiers during normal conditions and cyber‐attacks
Authors: Tusher Animesh Sarkar , Rahman M. A. , Islam Md. Rashidul , Hossain M. J.
Published: June 2024

Transmission lines, the core part of the transmission and distribution system in the smart grid, require effective, efficient, and reliable protective measures against faults to avoid severe damage to physical infrastructure and financial losses. Due to their growing popularity, machine learning models are used in fault detection and classification, whose performances can be severely affected by cyber‐attacks due to their data dependency, posing a critical concern. Hence, this paper introduces false data injection attacks to address the vulnerability of machine learning‐based fault detectors and classifiers. A comparative study of 9 detection models and 6 classification models under normal conditions and during a combination of two models of false data injection attacks is presented to evaluate the severity of cyber‐attacks. Experimental results show that highly accurate models in normal conditions are more susceptible to cyber‐attacks, with up to 69% and 28% degradations in accuracy for fault detectors and classifiers, respectively. Furthermore, the detection models are found to be more vulnerable to cyber‐attacks than the classification models. With no robust detectors and classifiers being found, this work addresses the importance of developing attack‐resilient fault detection and classification schemes considering their academic and industrial significance.
Spot ignition of a wildland fire and its transition to propagation
Authors: Wang Supan , Thomsen Maria , Huang Xinyan , Fernandez-Pello Carlos
Published: June 2024

Background The prediction of the propagation of wildland fires is an important socio-technical problem. Wildland fires are often initiated by small spot ignition sources and then spread to larger burning areas. Methods Experiments are conducted for the spotting ignition of a forest surface fuel (pine needles) in a relatively large (up to 1 m2), horizontal laboratory bed, and the subsequent fire spread without wind. The spotting ignition sources are a cluster of steel particles, an ember and a small pilot flame. Key results and conclusions Wildfire spread has an initial acceleration phase, with the growth of the burned area in the fuel bed following a power law dependence in time, almost independent of the ignition source. Comparison with previous larger-scale experiments and FARSITE modelling of the fire spread over similar fuel beds shows that the power function with time describes well the combined results of the initial wildfire growth and the transition to larger fire propagation for relatively long times. Implications The Rothermel equation under different environmental conditions may be extended to describe the initial accelerative growth of a spot fire. This work supports the modelling of fire propagation that currently is geared to a later time in the development of a wildfire.
msproteomics sitereport: reporting DIA-MS phosphoproteomics experiments at site level with ease
Authors: Pham Thang V , Henneman Alex A , Truong Nam X , Jimenez Connie R
Published: June 2024

Identification and quantification of phosphorylation sites are essential for biological interpretation of a phosphoproteomics experiment. For data independent acquisition mass spectrometry-based (DIA-MS) phosphoproteomics, extracting a site-level report from the output of current processing software is not straightforward as multiple peptides might contribute to a single site, multiple phosphorylation sites can occur on the same peptides, and protein isoforms complicate site specification. Currently only limited support is available from a commercial software package via a platform-specific solution with a rather simple site quantification method. Here, we present sitereport, a software tool implemented in an extendable Python package called msproteomics to report phosphosites and phosphopeptides from a DIA-MS phosphoproteomics experiment with a proven quantification method called MaxLFQ. We demonstrate the use of sitereport for downstream data analysis at site level, allowing benchmarking different DIA-MS processing software tools.

Availability and implementation

sitereport is available as a command line tool in the Python package msproteomics, released under the Apache License 2.0 and available from the Python Package Index (PyPI) at https://pypi.org/project/msproteomics and GitHub at https://github.com/tvpham/msproteomics.
Ash1l loss-of-function results in structural birth defects and altered cortical development
Authors: Toolan Kevin P , McGrath Brian T , Brinkmeier Michelle L , Camper Sally A , Bielas Stephanie L
Published: June 2024

The histone methyltransferase ASH1L plays a crucial role in regulating gene expression across various organ systems during development, yet its role in brain development remains largely unexplored. Over 130 individuals with autism harbour heterozygous loss-of-function ASH1L variants, and population studies confirm it as a high-risk autism gene. Previous studies on Ash1l deficient mice have reported autistic-like behaviours and provided insights into the underlying neuropathophysiology.

In this study, we used mice with a cre-inducible deletion of Ash1l exon 4, which results in a frame shift and premature stop codon (p.V1693Afs*2). Our investigation evaluated the impact of Ash1l loss-of-function on survival and craniofacial skeletal development. Using a tamoxifen-inducible cre strain, we targeted Ash1l knockout early in cortical development [Emx1-Cre-ERT2; embryonic Day (e) 10.5]. Immunohistochemistry was utilized to assess cortical lamination, while EdU incorporation aided in birthdating cortical neurons. Additionally, single-cell RNA sequencing was employed to compare cortical cell populations and identify genes with differential expression.

At e18.5, the proportion of homozygous Ash1l germline knockout embryos appeared normal; however, no live Ash1l null pups were present at birth (e18.5: n = 77, P = 0.90; p0: n = 41, P = 0.00095). Notably, Ash1l−/– exhibited shortened nasal bones (n = 31, P = 0.017). In the cortical-specific knockout model, SATB2 neurons showed increased numbers (n = 6/genotype, P = 0.0001) and were distributed through the cortical plate. Birthdating revealed generation of ectopically placed deep layer neurons that express SATB2 (e13.5 injection: n = 4/genotype, P = 0.0126). Single cell RNA sequencing revealed significant differences in gene expression between control and mutant upper layer neurons, leading to distinct clustering. Pseudotime analysis indicated that the mutant cluster followed an altered cell differentiation trajectory.

This study underscores the essential role of Ash1l in postnatal survival and normal craniofacial development. In the cortex, ASH1L exerts broad effects on gene expression and is indispensable for determining the fate of upper layer cortical neurons. These findings provide valuable insights into the potential mechanisms of ASH1L neuropathology, shedding light on its significance in neurodevelopmental disorders like autism.
Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor
Authors: Zhou Xun , He Runcheng , Zeng Sheng , Li Mingqiang , Pan Hongxu , Zhao Yuwen , Liu Zhenhua , Xu Qian , Guo Jifeng , Yan Xinxiang , Li Jinchen , Tang Beisha , Sun Qiying
Published: June 2024

There is an obvious clinical–pathological overlap between essential tremor and some known tremor-associated short tandem repeat expansion disorders. The aim is to analyse whether these short tandem repeat genes, including ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8OS, ATXN10, PPP2R2B, TBP, BEAN1, NOP56, DAB1, ATN1, SADM12 and FMR1, are associated with familial essential tremor patients. Genetic analysis of repeat sizes in tremor-associated short tandem repeat expansions was performed in a large cohort of 515 familial essential tremor probands and 300 controls. The demographic and clinical features among carriers of pathogenic expansions, intermediate repeats and non-carriers were compared. A total of 18 out of 515 (18/515, 3.7%) patients were found to have repeats expansions, including 12 cases (12/515, 2.5%) with intermediate repeat expansions (one ATXN1, eight TBP, two FMR1, one ATN1), and six cases (6/515, 1.2%) with pathogenic expansions (one ATXN1, one ATXN2, one ATXN8OS, one PPP2R2B, one FMR1, one SAMD12). There were no statistically significant differences in intermediate repeats compared to healthy controls. Furthermore, there were no significant differences in demographics and clinical features among individuals with pathogenic expansions, intermediate repeat expansions carriers and non-carriers. Our study indicates that the intermediate repeat expansion in tremor-associated short tandem repeat expansions does not pose an increased risk for essential tremor, and rare pathogenic expansion carriers have been found in the familial essential tremor cohort. The diagnosis of essential tremor based solely on clinical symptoms remains a challenge in distinguishing it from known short tandem repeat expansions diseases with overlapping clinical–pathological features.
Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?
Authors: Gardner Oliver F W , Bai Tianshu , Baillie George S , Ferretti Patrizia
Published: June 2024

Members of the phosphodiesterase 4 (PDE4) enzyme family regulate the availability of the secondary messenger cyclic adenosine monophosphate (cAMP) and, by doing so, control cellular processes in health and disease. In particular, PDE4D has been associated with Alzheimer’s disease and the intellectual disability seen in fragile X syndrome. Furthermore, single point mutations in critical PDE4D regions cause acrodysostosis type 2(ACRDYS2, also referred to as inactivating PTH/PTHrP signalling disorder 5 or iPPSD5), where intellectual disability is seen in ∼90% of patients alongside the skeletal dysmorphologies that are characteristic of acrodysostosis type 1 (ACRDYS1/iPPSD4) and ACRDYS2. Two contrasting mechanisms have been proposed to explain how mutations in PDE4D cause iPPSD5. The first mechanism, the ‘over-activation hypothesis’, suggests that cAMP/PKA (cyclic adenosine monophosphate/protein kinase A) signalling is reduced by the overactivity of mutant PDE4D, whilst the second, the ‘over-compensation hypothesis’ suggests that mutations reduce PDE4D activity. That reduction in activity is proposed to cause an increase in cellular cAMP, triggering the overexpression of other PDE isoforms. The resulting over-compensation then reduces cellular cAMP and the levels of cAMP/PKA signalling. However, neither of these proposed mechanisms accounts for the fine control of PDE activation and localization, which are likely to play a role in the development of iPPSD5. This review will draw together our understanding of the role of PDE4D in iPPSD5 and present a novel perspective on possible mechanisms of disease.
Beyond sarcopenia: frailty in chronic haemodialysis patients
Authors: Souweine Jean-Sébastien , Pasquier Grégoire , Morena Marion , Patrier Laure , Rodriguez Annie , Raynal Nathalie , Ohresser Isabelle , Benomar Racim , Hayot Maurice , Mercier Jacques , Gouzi Farès , Cristol Jean-Paul
Published: June 2024

Background

Frailty, characterized by vulnerability, reduced reserves and increased susceptibility to severe events, is a significant concern in chronic haemodialysis (HD) patients. Sarcopenia, corresponding to the progressive loss of muscle mass and strength, may contribute to frailty by reducing functional capacity, mobility and autonomy. However, consensus lacks on the optimal bedside frailty index for chronic HD patients. This study investigated the influence of frailty on chronic HD patient survival and explored the associated factors.

Methods

A total of 135 patients were enrolled from January to April 2019 and then followed up prospectively until April 2022. At inclusion, frailty was assessed by the Timed Up and Go (TUG) and Short Physical Performance Battery (SPPB) tests including gait speed, standing balance and lower limb muscle strength.

Results

From a total of 114 prevalent chronic HD patients (66% men, age 67.6 ± 15.1 years), 30 died during the follow-up period of 23.7 months (range 16.8–34.3). Deceased patients were older, had more comorbidities and a higher sarcopenia prevalence (P < .05). The TUG and SPPB test scores were significantly reduced in patients who had died [SPPB total score: 7.2 ± 3.3 versus 9.4 ± 2.5; TUG time 8.7 ± 5.8 versus 13.8 ± 10.5 (P < .05)]. Multivariate analysis showed that a higher SPPB score (total value >9) was associated with a lower mortality risk [hazard ratio 0.83 (95% confidence interval 0.74–0.92); P < .03). Each component of the SPPB test was also associated with mortality in univariate analysis, but only the SPPB balance test remained protective against mortality in multivariate analysis. Older age, lower handgrip strength and lower protein catabolic rate were associated with SPPB total scores <9, SPPB balance score and TUG time >10 s.

Conclusions

Screening for frailty is crucial in chronic HD patients, and incorporating SPPB, especially the balance test, provides valuable insights. Diminished muscle strength and inadequate protein intake negatively influence the SPPB score and balance in chronic HD patients. Effective identification and management of frailty can therefore improve outcomes.

CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov

NCT03845452.
Effect of gout and diabetic kidney disease on renal cancer development in Korea
Authors: Chung Seung Min , Jung Inha , Lee Da Young , Park So Young , Yu Ji Hee , Moon Jun Sung , Seo Ji A , Han Kyungdo , Kim Nan Hee
Published: June 2024

Background

Chronic kidney disease (CKD) and gout are risk factors for renal cancer. We analysed the effects of comorbid diabetic kidney disease and gout on renal cancer.

Methods

This retrospective cohort study enrolled 847 884 patients with type 2 diabetes mellitus (T2DM) who underwent health assessments provided by the Korean National Health Insurance Service in 2009. Based on CKD occurrence (glomerular filtration rate <60 ml/min/1.73 m2) and gout (two outpatient visits or one hospitalization within 5 years), patients were classified into four groups: CKD−Gout− (87.5%), CKD−Gout+ (2.5%), CKD+Gout− (9.3%) and CKD+Gout+ (0.7%). Patients with incident renal cancer (International Classification of Diseases code C64) were followed up until December 2018.

Results

Renal cancer was diagnosed in 2376 patients (0.3%). Renal cancer incidence increased in sequential order of CKD−Gout− [0.29/1000 person-years (PY), CKD+Gout− and CKD−Gout+ (0.44 and 0.48/1000 PY, respectively) and CKD+Gout+ (1.14/1000 PY). Comorbid gout increased renal cancer risk depending on CKD occurrence {hazard ratio [HR] 1.28 [95% confidence interval (CI) 1.04–1.58 among those without CKD; HR 1.95 [95% CI 1.45–2.63] among those with CKD; P-value for interaction = 0.024}. The interaction was significant, particularly in men and patients with a shorter diabetes duration (<5 years) and lesser medication use (no insulin or fewer than three classes of oral hypoglycaemic agents).

Conclusions

CKD and gout individually contributed to renal cancer incidence, and the risk is further increased when gout coexists with CKD. Screening for gout and appropriate management of CKD at an early T2DM stage may be beneficial.
ISTransbase: an online database for inhibitor and substrate of drug transporters
Authors: Peng Jinfu , Yi Jiacai , Yang Guoping , Huang Zhijun , Cao Dongsheng
Published: June 2024

Drug transporters, integral membrane proteins found throughout the human body, play critical roles in physiological and biochemical processes through interactions with ligands, such as substrates and inhibitors. The extensive and disparate data on drug transporters complicate understanding their complex relationships with ligands. To address this challenge, it is essential to gather and summarize information on drug transporters, inhibitors and substrates, and simultaneously develop a comprehensive and user-friendly database. Current online resources often provide fragmented information and have limited coverage of drug transporter substrates and inhibitors, highlighting the need for a specialized, comprehensive and openly accessible database. ISTransbase addresses this gap by amassing a substantial amount of data from literature, government documents and open databases. It includes 16 528 inhibitors and 4465 substrates of 163 drug transporters from 18 different species, resulting in a total of 93 841 inhibitor records and 51 053 substrate records. ISTransbase provides detailed insights into drug transporters and their inhibitors/substrates, encompassing transporter and molecule structure, transporter function and distribution, as well as experimental methods and results from transport or inhibition experiments. Furthermore, ISTransbase offers three search strategies that allow users to retrieve drugs and transporters based on multiple selectable constraints, as well as perform checks for drug–drug interactions. Users can also browse and download data. In summary, ISTransbase (https://istransbase.scbdd.com/) serves as a valuable resource for accurately and efficiently accessing information on drug transporter inhibitors and substrates, aiding researchers in exploring drug transporter mechanisms and assisting clinicians in mitigating adverse drug reactions

Database URL: https://istransbase.scbdd.com/
Systematic review of the perioperative classification, diagnosis, description and repair of hiatus hernias in randomized controlled trials
Authors: Abouelella Yasmin , Findlay John M
Published: June 2024

Hiatus hernias (HH) are a common cause of symptoms and complications, with considerable variation in anatomy, function, diagnosis and treatment. We undertook the first systematic review to appraise how HH are diagnosed and classified in the literature, using randomized controlled trials as a sample. A search was performed in July 2021of the PubMed, EMBASE and Cochrane Central Register of Controlled Trials, and 2832 articles were identified and 64 were included. Median Jadad score was 2. Studies demonstrated considerable variation in diagnosis, classification and minimum surgical steps. The commonest classifications before surgery were axial length and the Type I-IV classification, variably assessed by endoscopy and contrast swallow. Intra-operatively, the commonest classification was type I-IV. A minority used more than one classification, or alternatives such as defect size and Hill classification. Most studies reported minimum steps, but these varied. Only a minority reported criteria for diagnosing recurrence. Using randomized controlled trials to appraise the highest quality evidence in the literature, we found considerable variation and inconsistency in the way HH are diagnosed and classified. This lack of a ‘common language’ has significant impacts for the generalizability of evidence, study synthesis and design. We propose the development of an internationally accepted classification. We wish to confirm that there are no known conflicts of interest associated with this publication and there has been no significant financial support for this work that could have influenced its outcome. We confirm that the manuscript has been read and approved by all named authors and that there are no other persons who satisfied the criteria for authorship but are not listed. We further confirm that the order of authors listed in the manuscript has been approved by all of us.
Causal models for longitudinal and panel data: a survey
Authors: Arkhangelsky Dmitry , Imbens Guido
Published: June 2024

In this survey we discuss the recent causal panel data literature. This recent literature has focused on credibly estimating causal effects of binary interventions in settings with longitudinal data, emphasising practical advice for empirical researchers. It pays particular attention to heterogeneity in the causal effects, often in situations where few units are treated and with particular structures on the assignment pattern. The literature has extended earlier work on difference-in-differences or two-way fixed effect estimators. It has more generally incorporated factor models or interactive fixed effects. It has also developed novel methods using synthetic control approaches.
Rare secondary hypertension caused by compound heterozygous CYP17A1 mutations: a case report
Authors: Sun Jianying , Ma Tao , Jiang Tao , Ma Yazhe , Fan Jie
Published: June 2024

Background

17α-Hydroxylase deficiency, a rare form of congenital adrenal hyperplasia, presents diagnostic and treatment challenges because of the limited number of cases reported.

Case summary

This report discusses the case of a 17-year-old Chinese girl who suffered from unexplained dizziness, headaches, and high blood pressure. She had amenorrhoea during puberty and had been diagnosed with ovarian delay. Initially, she was diagnosed with hypertension and received three antihypertensive medications. However, her blood pressure remained poorly controlled. Gene sequencing revealed 17α-hydroxylase deficiency caused by compound heterozygous mutations in CYP17A1. One of the mutation sites, potentially novel, has not been reported previously. Subsequently, dexamethasone therapy was initiated, her blood pressure was controlled, and the symptoms disappeared. During the 1-year follow-up, her blood pressure remained normal, and the symptoms did not recur.

Discussion

17α-Hydroxylase deficiency is a rare cause of secondary hypertension. Despite the low prevalence, it should not be overlooked in younger patients.
Case series: successful salvage from refractory cardiogenic shock caused by COVID-19-associated myocardial injury with temporary ventricular assist devices
Authors: Tonai Kohei , Ohta-Ogo Keiko , Kainuma Satoshi , Tadokoro Naoki , Tsukamoto Yasumasa , Hatakeyama Kinta , Suzuki Tadaki , Fukushima Satsuki
Published: June 2024

Background

Coronavirus disease 2019 (COVID-19) is predominantly known to cause respiratory injury; however, the present case series highlights four instances in which the infection resulted in significant cardiac complications. Among such cases, some represent severe cardiogenic shock, which necessitates the immediate introduction of mechanical circulatory support (MCS) for salvage.

Case summary

This case series involved patients with COVID-19-associated myocardial injury leading to fulminant cardiogenic shock. These patients required immediate implementation of peripheral MCS, followed by an instant upgrade to a central MCS system due to anatomical limitations and severe biventricular dysfunction. Central MCS provided effective ventricular unloading, resulting in a significant and prompt improvement in ventricular function. The treatment timeline showed rapid deterioration followed by remarkable recovery within 2 weeks of MCS initiation, demonstrating the effectiveness of aggressive and tailored MCS strategies in managing severe COVID-19-related cardiac complications.

Discussion

This study provides significant insights into the cardiovascular implications of COVID-19, particularly in the context of severe myocardial injury that leads to cardiogenic shock. The report underscores the importance of early recognition and intervention in such cases, focusing on the use of MCS as a life-saving modality. The findings also revealed unique pathological features of COVID-19-associated myocardial injury, including macrophage-predominant infiltration and microthrombosis, which are distinct from the features of conventional myocarditis. These findings highlight the need for further research on the pathophysiology of COVID-19-related cardiac injuries and the development of targeted therapeutic strategies.
Using List Prices to Collude or to Compete?
Authors: Cussen Diego , Montero Juan-Pablo
Published: June 2024

Collusion is deemed unlikely in wholesale markets where upstream suppliers and intermediate buyers privately negotiate discounts off list prices and sales quotas are unfeasible. However, many wholesale markets include both small and large buyers who compete in the retail market. We study the role of publicly announced list prices in this wholesale-retail setting, whether suppliers collude or compete. When suppliers collude, public announcements of list prices extend the possibility of collusion from small to large buyers (the multi-buyer contact effect). When suppliers compete, these announcements provide them with commitment to negotiate better terms with large buyers (the commitment effect).
Church Membership and Economic Recovery: Evidence from the 2005 Hurricane Season
Authors: Hasan Iftekhar , Manfredonia Stefano , Noth Felix
Published: June 2024

This paper investigates the critical role of church membership in the process of economic recovery after high-impact natural disasters. We document a significant adverse treatment effect of the 2005 hurricane season in the Southeastern United States on establishment-level productivity. However, we find that establishments in counties with higher rates of church membership saw a significantly stronger recovery in terms of productivity for 2005–10. We also show that church membership is correlated with post-disaster entrepreneurship activities and population growth.