bluuebunny/crossref_metadata_2025_split huggingface dataset:
Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation
Authors: Ellard Holly , Clarke Angus , Wynn Sarah , Pichini Amanda , Lewis Celine 
Published: May 2024

AbstractWhole genome sequencing (WGS) is being used in diagnostic testing for certain clinical indications within the NHS Genomic Medicine Service (GMS) in England. Letter writing is an integral part of delivering results. However, no national guidelines for writing results from WGS exist. This multi-centre service evaluation used mixed methods to understand the content and readability of letters returning diagnostic, variant of uncertain significance (VUS), and no-finding results to paediatric rare disease patients. Eight Regional Genetics Services (response rate 47%) in England provided a total of 37 letters returning diagnostic (n = 13), VUS (n = 10), and no-finding (n = 14) results. Diagnostic and VUS results were usually delivered during an appointment; no-finding results were typically delivered by letter only. Letters were diverse in which content topics they covered and level of detail. No-finding letters (14/14) explained the result but were less likely to cover other topics. Diagnostic letters discussed the result (13/13), the condition (13/13), clinical genetics follow-up (13/13), clinical management (10/13), and adapting to the result (9/13). VUS letters explained the result (10/10), diagnostic uncertainty (10/10), and clinical genetics follow-up (10/10). Uncertainty was a common component of letters (33/37), irrespective of the result. Reanalysis or review after one or more years was suggested in 6/13 diagnostic, 7/10 VUS, and 6/14 no-finding letters. The mean reading level of letters corresponded to 15–17 years. Understanding how WGS results are conveyed to families during appointments, as well as how families interpret that information, is needed to provide a more comprehensive overview of results communication and inform best practices.
Endocrine effect of phthalate metabolites and a butterfly effect of prenatal exposure to androgens on qualitative aspects of female sexual response- an initial survey
Authors: Kolena Branislav , Hlisníková Henrieta , Nagyová Miroslava , Orendáčová Katarína , Vondráková Mária , Petrovičová Ida , Mlynček Miloš , Weiss Petr , Pfaus James G. 
Published: May 2024

AbstractThere is growing evidence that endocrine disruptive chemicals have deleterious effects on sexual and reproductive function. To examine subjective sexual functions in human females and their relationship to postnatal phthalate exposure and perinatal androgenization, a Sexuality Score (SS) was established from a first-stage survey questionnaire of subjective sexual function filled out by female university students (n = 68; average age 25.23 ± 5.17 years; rural 25.51 ± 6.74 vs. urban 25.85 ± 1.43 years). Seventeen phthalate metabolites in urine samples were analyzed by high‐performance liquid chromatography (HPLC) and tandem mass spectrometry (MS/MS). Females were also assessed for the 2D:4D digit ratio as an index of perinatal androgenization. The mean age of menarche was 12.82 ± 1.35 years (rural 12.59 ± 1.39 vs. urban 13.18 ± 1.27; p = 0.01). The mean age at first sexual intercourse was 14.88 ± 6.89 years (rural 14.62 ± 7.20 vs. urban 15.24 ± 6.55), and as the age of first sexual intercourse increases, the SS score tends to increase as well, albeit moderately (r = 0.25, p = 0.037). Mono‐iso‐butyl phthalate, mono(2‐ethyl‐5‐carboxypentyl) phthalate, mono(hydroxy‐n‐butyl) phthalate, mono(2‐ethyl‐5‐oxohexyl) phthalate (p ≤ 0.05) and mono(2-carboxymethylhexyl) phthalate (p ≤ 0.01) were negatively associated with SS. A compounding butterfly effect of prenatal exposure to androgens was observed with disruptive effects of mono(2‐ethyl‐5‐oxohexyl) phthalate and mono(2‐ethyl‐5‐carboxypentyl) phthalate on sexual function. Exposure to phthalates in adult females may lead to disruption of subjective sexual function, especially concerning sexual desire and sexual satisfaction, and perinatal androgenization could augment these effects.
Physiochemical interaction between osmotic stress and a bacterial exometabolite promotes plant disease
Authors: Getzke Felix , Wang Lei , Chesneau Guillaume , Böhringer Nils , Mesny Fantin , Denissen Nienke , Wesseler Hidde , Adisa Priscilla Tijesuni , Marner Michael , Schulze-Lefert Paul , Schäberle Till F. , Hacquard Stéphane 
Published: May 2024

AbstractVarious microbes isolated from healthy plants are detrimental under laboratory conditions, indicating the existence of molecular mechanisms preventing disease in nature. Here, we demonstrated that application of sodium chloride (NaCl) in natural and gnotobiotic soil systems is sufficient to induce plant disease caused by an otherwise non-pathogenic root-derived Pseudomonas brassicacearum isolate (R401). Disease caused by combinatorial treatment of NaCl and R401 triggered extensive, root-specific transcriptional reprogramming that did not involve down-regulation of host innate immune genes, nor dampening of ROS-mediated immunity. Instead, we identified and structurally characterized the R401 lipopeptide brassicapeptin A as necessary and sufficient to promote disease on salt-treated plants. Brassicapeptin A production is salt-inducible, promotes root colonization and transitions R401 from being beneficial to being detrimental on salt-treated plants by disturbing host ion homeostasis, thereby bolstering susceptibility to osmolytes. We conclude that the interaction between a global change stressor and a single exometabolite from a member of the root microbiome promotes plant disease in complex soil systems.
Liquid foam improves potency and safety of gene therapy vectors
Authors: Fitzgerald K. , Stephan S. B. , Ma N. , Wu Q. V. , Stephan M. T. 
Published: May 2024

AbstractInterest in gene therapy medicines is intensifying as the first wave of gene-correcting drugs is now reaching patient populations. However, efficacy and safety concerns, laborious manufacturing protocols, and the high cost of the therapeutics are still significant barriers in gene therapy. Here we describe liquid foam as a vehicle for gene delivery. We demonstrate that embedding gene therapy vectors (nonviral or viral) in a methylcellulose/xanthan gum-based foam formulation substantially boosts gene transfection efficiencies in situ, compared to liquid-based gene delivery. We further establish that our gene therapy foam is nontoxic and retained at the intended target tissue, thus minimizing both systemic exposure and targeting of irrelevant cell types. The foam can be applied locally or injected to fill body cavities so the vector is uniformly dispersed over a large surface area. Our technology may provide a safe, facile and broadly applicable option in a variety of clinical settings.
Associations of semaglutide with incidence and recurrence of alcohol use disorder in real-world population
Authors: Wang William , Volkow Nora D. , Berger Nathan A. , Davis Pamela B. , Kaelber David C. , Xu Rong 
Published: May 2024

AbstractAlcohol use disorders are among the top causes of the global burden of disease, yet therapeutic interventions are limited. Reduced desire to drink in patients treated with semaglutide has raised interest regarding its potential therapeutic benefits for alcohol use disorders. In this retrospective cohort study of electronic health records of 83,825 patients with obesity, we show that semaglutide compared with other anti-obesity medications is associated with a 50%-56% lower risk for both the incidence and recurrence of alcohol use disorder for a 12-month follow-up period. Consistent reductions were seen for patients stratified by gender, age group, race and in patients with and without type 2 diabetes. Similar findings are replicated in the study population with 598,803 patients with type 2 diabetes. These findings provide evidence of the potential benefit of semaglutide in AUD in real-world populations and call for further randomized clinical trials.
Narrowband room temperature phosphorescence of closed-loop molecules through the multiple resonance effect
Authors: Yao Xiaokang , Li Yuxin , Shi Huifang , Yu Ze , Wu Beishen , Zhou Zixing , Zhou Chifeng , Zheng Xifang , Tang Mengting , Wang Xiao , Ma Huili , Meng Zhengong , Huang Wei , An Zhongfu 
Published: May 2024

AbstractLuminescent materials with narrowband emission show great potential for diverse applications in optoelectronics. Purely organic phosphors with room-temperature phosphorescence (RTP) have made significant success in rationally manipulating quantum efficiency, lifetimes, and colour gamut in the past years, but there is limited attention on the purity of the RTP colours. Herein we report a series of closed-loop molecules with narrowband phosphorescence by multiple resonance effect, which significantly improves the colour purity of RTP. Phosphors show narrowband phosphorescence with full width at half maxima (FWHM) of 30 nm after doping into a rigid benzophenone matrix under ambient conditions, of which the RTP efficiency reaches 51.8%. At 77 K, the FWHM of phosphorescence is only 11 nm. Meanwhile, the colour of narrowband RTP can be tuned from sky blue to green with the modification of methyl groups. Additionally, the potential applications in X-ray imaging and display are demonstrated. This work not only outlines a design principle for developing narrowband RTP materials but also makes a major step forward extending the potential applications of narrowband luminescent materials in optoelectronics.
Microwave-transparent metallic metamaterials for autonomous driving safety
Authors: Lee Eun-Joo , Kim Jun-Young , Kim Young-Bin , Kim Sun-Kyung 
Published: May 2024

AbstractMaintaining the surface transparency of protective covers using transparent heaters in extreme weather is imperative for enhancing safety in autonomous driving. However, achieving both high transmittance and low sheet resistance, two key performance indicators for transparent heaters, is inherently challenging. Here, inspired by metamaterial design, we report microwave-transparent, low-sheet-resistance heaters for automotive radars. Ultrathin (approximately one ten-thousandth of the wavelength), electrically connected metamaterials on a millimetre-thick dielectric cover provide near-unity transmission at specific frequencies within the W band (75–110 GHz), despite their metal filling ratio exceeding 70 %. These metamaterials yield the desired phase delay to adjust Fabry–Perot resonance at each target frequency. Fabricated microwave-transparent heaters exhibit exceptionally low sheet resistance (0.41 ohm/sq), thereby heating the dielectric cover above 180 °C at a nominal bias of 3 V. Defrosting tests demonstrate their thermal capability to swiftly remove thin ice layers in sub-zero temperatures.
Nucleosomal DNA has topological memory
Authors: Segura Joana , Díaz-Ingelmo Ofelia , Martínez-García Belén , Ayats-Fraile Alba , Nikolaou Christoforos , Roca Joaquim 
Published: May 2024

AbstractOne elusive aspect of the chromosome architecture is how it constrains the DNA topology. Nucleosomes stabilise negative DNA supercoils by restraining a DNA linking number difference (∆Lk) of about −1.26. However, whether this capacity is uniform across the genome is unknown. Here, we calculate the ∆Lk restrained by over 4000 nucleosomes in yeast cells. To achieve this, we insert each nucleosome in a circular minichromosome and perform Topo-seq, a high-throughput procedure to inspect the topology of circular DNA libraries in one gel electrophoresis. We show that nucleosomes inherently restrain distinct ∆Lk values depending on their genomic origin. Nucleosome DNA topologies differ at gene bodies (∆Lk = −1.29), intergenic regions (∆Lk = −1.23), rDNA genes (∆Lk = −1.24) and telomeric regions (∆Lk = −1.07). Nucleosomes near the transcription start and termination sites also exhibit singular DNA topologies. Our findings demonstrate that nucleosome DNA topology is imprinted by its native chromatin context and persists when the nucleosome is relocated.
NSGAN: a non-dominant sorting optimisation-based generative adversarial design framework for alloy discovery
Authors: Li Z. , Birbilis N. 
Published: May 2024

AbstractThe design and discovery of new materials is fundamental to advancing scientific and technological innovation. The recent emergence of the materials genome concept holds great promise in revolutionising materials science by enabling the systematic utilisation of data for efficient prediction and optimisation of ‘superior’ materials. However, the materials genome approach can be stymied by the vast complexity of design spaces, which often demand substantial computational resources and sophisticated data processing capabilities. To address these challenges, this work introduces a generative design framework called the non-dominant sorting optimisation-based generative adversarial networks (NSGAN). Capitalising on the synergies of genetic algorithms (GA) and generative adversarial networks (GANs), NSGAN provides a robust and efficient approach for tackling high-dimensional multi-objective optimisation design problems. To validate the efficacy of the proposed framework, we applied the model to a comprehensive dataset of aluminium alloys. Additionally, an online tool was created as a supplementary resource, offering a brief introduction to this innovative method for the wider scientific community. This study explores the potential of a predictive and data-driven approach in material design, indicating a promising pathway for widespread applications in the field of materials science.
Complementary corrosion protection of cast AlSi7Mg0.3 alloy using Zr-Cr conversion and polyacrylic/siloxane-silica multilayer coatings
Authors: Rodič Peter , Kapun Barbara , Milošev Ingrid 
Published: May 2024

AbstractAluminium cast alloy AlSi7Mg0.3 is a lightweight metal commonly used in automotive, aeronautical and mechanical applications. It has good corrosion resistance but, under harsh operative conditions, would benefit from additional protection. In this study, a corrosion-protective multilayer coating system for AlSi7Mg0.3 based on hexafluoro-zirconated trivalent chromium coating (Zr-CrCC) and polyacrylic/siloxane-silica (PEHA-SS) coating was developed. The Zr-CrCC was formed by immersion of the substrate in a commercial conversion bath (SurTec® 650). PEHA-SS synthesis was based on organic precursors (2-ethylhexyl acrylate and [3-(methacryloyloxy)propyl]trimethoxysilane) and an inorganic precursor, tetraethyl orthosilicate. After deposition on AlSi7Mg0.3, each coating was first characterised individually, followed by the analysis of the multilayer using scanning electron microscopy and energy-dispersive X-ray spectroscopy. The adhesion of the coatings was evaluated with a cross-hatch cut test. The corrosion studies in sodium chloride solution using electrochemical impedance spectroscopy and salt spray testing showed that the multilayer system is superior to individual Zr-CrCC and PEHA-SS coatings. After 4 months in 0.1 M NaCl, the multilayer-coated samples exhibited the impedance at 10 mHz in the range of GΩ cm2, while scribed samples withstood the corrosion attack in a salt spray chamber for one week. Thus, albeit only about 100 nm thick, the Zr-CrCC deposited between the substrate and a 9-micrometre thick barrier sol-gel PEHA-SS coating acts as an active corrosion protection interlayer and contributes to the overall protectiveness of the multilayer system.
Delayed fracture behavior of ultra-high-strength mooring chain steel evaluated by potentiostatic hydrogen-charging combined with SSRT
Authors: Wei Jiajiao , Hou Ke , Yang Feng , Chang Zhipeng , Li Ju , Shao Yunliang , Li Mengjia , Yu Xiaomei , Zheng Jinyou , Zhou Yutao , Yang Yongpeng , Ping Dehai , Liu Yong , Li Min , Li Songjie 
Published: May 2024

AbstractThe influence of hydrogen charging potentials on the hydrogen embrittlement susceptibility of R6 ultra-high strength mooring chain steel was investigated via constant potential hydrogen charging slow strain rate tensile tests combined with thermal desorption analysis. The results reveal that hydrogen charging leads to a 38.94% decrease in elongation, while the impact on tensile strength is relatively minor. Furthermore, the specimens experienced intergranular cracking at the critical potential of −1150 mV, with the size of the brittle region increasing as the negative charging potential becomes more negative. And, hydrogen atoms can cause local embrittlement of materials and increase KAM value.
Nociceptor-immune interactomes reveal insult-specific immune signatures of pain
Authors: Jain Aakanksha , Gyori Benjamin M. , Hakim Sara , Jain Ashish , Sun Liang , Petrova Veselina , Bhuiyan Shamsuddin A. , Zhen Shannon , Wang Qing , Kawaguchi Riki , Bunga Samuel , Taub Daniel G. , Ruiz-Cantero M. Carmen , Tong-Li Candace , Andrews Nicholas , Kotoda Masakazu , Renthal William , Sorger Peter K. , Woolf Clifford J. 
Published: May 2024

AbstractInflammatory pain results from the heightened sensitivity and reduced threshold of nociceptor sensory neurons due to exposure to inflammatory mediators. However, the cellular and transcriptional diversity of immune cell and sensory neuron types makes it challenging to decipher the immune mechanisms underlying pain. Here we used single-cell transcriptomics to determine the immune gene signatures associated with pain development in three skin inflammatory pain models in mice: zymosan injection, skin incision and ultraviolet burn. We found that macrophage and neutrophil recruitment closely mirrored the kinetics of pain development and identified cell-type-specific transcriptional programs associated with pain and its resolution. Using a comprehensive list of potential interactions mediated by receptors, ligands, ion channels and metabolites to generate injury-specific neuroimmune interactomes, we also uncovered that thrombospondin-1 upregulated by immune cells upon injury inhibited nociceptor sensitization. This study lays the groundwork for identifying the neuroimmune axes that modulate pain in diverse disease contexts.
Investigated the role of community based approaches for biodiversity conservation and socio-economic development in Bale Mountains National Park, Southeast Ethiopia
Authors: Koricha Hussein Gena , Jemal Adem Mustafa 
Published: May 2024

AbstractCommunity based conservation approaches are the holistic way to ensure appropriate biodiversity conservation and livelihood improvement in many protected areas across the world. However involvement of local community in conservation activities and benefit sharing in many protected areas are not well implemented. The purpose of this study is to investigate the role of community based conservation approaches for biodiversity conservation and socio-economic development. To address the stated objectives, required data were gathered from both primary and secondary sources. The result of the study revealed that parks provide various benefits for the local communities which are found in and adjacent to the park. Regarding perceived benefits from park, there was significant difference among community based association and non-community based association at (X2 = 92.071, df = 1, P < 0.05) while no significant difference was observed across kebeles. In spite of variation in perception among local community on park conservation, it was revealed that the communities contribute towards conservation of the park by controlling outbreak of fire and informing wildlife attack. Regarding strengths and weakness of community based conservation approaches as the finding indicated that internal factors out weight the external factors which imply that implementing the approaches is crucial for successful conservation of the park.
Experimental and numerical investigations of the water surface profile and wave extrema of supercritical flows in a narrow channel bend
Authors: Kadia Subhojit , Larsson I. A. Sofia , Billstein Mats , Lia Leif , Pummer Elena 
Published: May 2024

AbstractSupercritical flows in channel bends, e.g., in steep streams, chute spillways, and flood and sediment bypass tunnels (SBTs), experience cross-waves, which undulate the free surface. The designs of these hydraulic structures and flood protection retaining structures in streams necessitate computing the locations and water depths of the wave extrema. This study numerically and experimentally investigates the water surface profiles along the sidewalls, the wave extrema flow depths, and their angular locations in a narrow channel bend model of the Solis SBT in Switzerland. The 0.2 m wide and 16.75 m long channel has a bend of 6.59 m radius and 46.5° angle of deviation. The tested flow conditions produced Froude numbers ≈ 2 and aspect ratios ranging from 1.14 to 1.83. Two-phase flow simulations were performed in OpenFOAM using the RNG k–ε turbulence closure model and the volume-of-fluid method. The simulated angular locations of the first wave extrema and the corresponding flow depths deviate marginally, within ± 6.3% and ± 2.1%, respectively, from the experimental observations, which signifies good predictions using the numerical model. Larger deviations, especially for the angular locations of the wave extrema, are observed for the existing analytical and empirical approaches. Therefore, the presented numerical approach is a suitable tool in designing the height of the hydraulic structures with bends and conveying supercritical flows. In the future, the model’s application shall be extended to the design of the height and location of retaining walls, embankments, and levees in steep natural streams with bends.
Reconstructing rodent brain signals during euthanasia with eigensystem realization algorithm (ERA)
Authors: Aqel Khitam , Wang Zhen , Peng Yuan B. , Maia Pedro D. 
Published: May 2024

AbstractWe accurately reconstruct the Local Field Potential time series obtained from anesthetized and awake rats, both before and during CO$$_2$$

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euthanasia. We apply the Eigensystem Realization Algorithm to identify an underlying linear dynamical system capable of generating the observed data. Time series exhibiting more intricate dynamics typically lead to systems of higher dimensions, offering a means to assess the complexity of the brain throughout various phases of the experiment. Our results indicate that anesthetized brains possess complexity levels similar to awake brains before CO$$_2$$

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administration. This resemblance undergoes significant changes following euthanization, as signals from the awake brain display a more resilient complexity profile, implying a state of heightened neuronal activity or a last fight response during the euthanasia process. In contrast, anesthetized brains seem to enter a more subdued state early on. Our data-driven techniques can likely be applied to a broader range of electrophysiological recording modalities.