bluuebunny/crossref_metadata_2025_split huggingface dataset:
The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis
Authors: Yagi Shusuke , Miyamoto Ryosuke , Tasaki Masayoshi , Morino Hiroyuki , Otani Ryuji , Kadota Muneyuki , Ise Takayuki , Yamazaki Hiroki , Kusunose Kenya , Yamaguchi Koji , Yamada Hirotsugu , Soeki Takeshi , Wakatsuki Tetsuzo , Fukuda Daiju , Ueda Mitsuharu , Sata Masataka 
Published: August 2024

Abstract
ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1.
Semaphorin heterodimerization in cis regulates membrane targeting and neocortical wiring
Authors: Bessa Paraskevi , Newman Andrew G. , Yan Kuo , Schaub Theres , Dannenberg Rike , Lajkó Denis , Eilenberger Julia , Brunet Theresa , Textoris-Taube Kathrin , Kemmler Emanuel , Deng Penghui , Banerjee Priyanka , Ravindran Ethiraj , Preissner Robert , Rosário Marta , Tarabykin Victor 
Published: August 2024

AbstractDisruption of neocortical circuitry and architecture in humans causes numerous neurodevelopmental disorders. Neocortical cytoarchitecture is orchestrated by various transcription factors such as Satb2 that control target genes during strict time windows. In humans, mutations of SATB2 cause SATB2 Associated Syndrome (SAS), a multisymptomatic syndrome involving epilepsy, intellectual disability, speech delay, and craniofacial defects. Here we show that Satb2 controls neuronal migration and callosal axonal outgrowth during murine neocortical development by inducing the expression of the GPI-anchored protein, Semaphorin 7A (Sema7A). We find that Sema7A exerts this biological activity by heterodimerizing in cis with the transmembrane semaphorin, Sema4D. We could also observe that heterodimerization with Sema7A promotes targeting of Sema4D to the plasma membrane in vitro. Finally, we report an epilepsy-associated de novo mutation in Sema4D (Q497P) that inhibits normal glycosylation and plasma membrane localization of Sema4D-associated complexes. These results suggest that neuronal use of semaphorins during neocortical development is heteromeric, and a greater signaling complexity exists than was previously thought.
Atomic structures of a bacteriocin targeting Gram-positive bacteria
Authors: Cai Xiaoying , He Yao , Yu Iris , Imani Anthony , Scholl Dean , Miller Jeff F. , Zhou Z. Hong 
Published: August 2024

AbstractDue to envelope differences between Gram-positive and Gram-negative bacteria, engineering precision bactericidal contractile nanomachines requires atomic-level understanding of their structures; however, only those killing Gram-negative bacteria are currently known. Here, we report the atomic structures of an engineered diffocin, a contractile syringe-like molecular machine that kills the Gram-positive bacterium Clostridioides difficile. Captured in one pre-contraction and two post-contraction states, each structure fashions six proteins in the bacteria-targeting baseplate, two proteins in the energy-storing trunk, and a collar linking the sheath with the membrane-penetrating tube. Compared to contractile machines targeting Gram-negative bacteria, major differences reside in the baseplate and contraction magnitude, consistent with target envelope differences. The multifunctional hub-hydrolase protein connects the tube and baseplate and is positioned to degrade peptidoglycan during penetration. The full-length tape measure protein forms a coiled-coil helix bundle homotrimer spanning the entire diffocin. Our study offers mechanical insights and principles for designing potent protein-based precision antibiotics.
Motor innervation directs the correct development of the mouse sympathetic nervous system
Authors: Erickson Alek G. , Motta Alessia , Kastriti Maria Eleni , Edwards Steven , Coulpier Fanny , Théoulle Emy , Murtazina Aliia , Poverennaya Irina , Wies Daniel , Ganofsky Jeremy , Canu Giovanni , Lallemend Francois , Topilko Piotr , Hadjab Saida , Fried Kaj , Ruhrberg Christiana , Schwarz Quenten , Castellani Valerie , Bonanomi Dario , Adameyko Igor 
Published: August 2024

AbstractThe sympathetic nervous system controls bodily functions including vascular tone, cardiac rhythm, and the “fight-or-flight response”. Sympathetic chain ganglia develop in parallel with preganglionic motor nerves extending from the neural tube, raising the question of whether axon targeting contributes to sympathetic chain formation. Using nerve-selective genetic ablations and lineage tracing in mouse, we reveal that motor nerve-associated Schwann cell precursors (SCPs) contribute sympathetic neurons and satellite glia after the initial seeding of sympathetic ganglia by neural crest. Motor nerve ablation causes mispositioning of SCP-derived sympathoblasts as well as sympathetic chain hypoplasia and fragmentation. Sympathetic neurons in motor-ablated embryos project precociously and abnormally towards dorsal root ganglia, eventually resulting in fusion of sympathetic and sensory ganglia. Cell interaction analysis identifies semaphorins as potential motor nerve-derived signaling molecules regulating sympathoblast positioning and outgrowth. Overall, central innervation functions both as infrastructure and regulatory niche to ensure the integrity of peripheral ganglia morphogenesis.
Multi-dimensional optical information acquisition based on a misaligned unipolar barrier photodetector
Authors: Zhang Shukui , Jiao Hanxue , Chen Yan , Yin Ruotong , Huang Xinning , Zhao Qianru , Tan Chong , Huang Shenyang , Yan Hugen , Lin Tie , Shen Hong , Ge Jun , Meng Xiangjian , Hu Weida , Dai Ning , Wang Xudong , Chu Junhao , Wang Jianlu 
Published: August 2024

AbstractAcquiring multi-dimensional optical information, such as intensity, spectrum, polarization, and phase, can significantly enhance the performance of photodetectors. Incorporating these dimensions allows for improved image contrast, enhanced recognition capabilities, reduced interference, and better adaptation to complex environments. However, the challenge lies in obtaining these dimensions on a single photodetector. Here we propose a misaligned unipolar barrier photodetector based on van der Waals heterojunction to address this issue. This structure enables spectral detection by switching between two absorbing layers with different cut-off wavelengths for dual-band detection. For polarization detection, anisotropic semiconductors like black phosphorus and black arsenic phosphorus inherently possess polarization-detection capabilities without additional complex elements. By manipulating the crystal direction of these materials during heterojunction fabrication, the device becomes sensitive to incident light at different polarization angles. This research showcases the potential of the misaligned unipolar barrier photodetector in capturing multi-dimensional optical information, paving the way for next-generation photodetectors.
Targeted DNA-seq and RNA-seq of Reference Samples with Short-read and Long-read Sequencing
Authors: Gong Binsheng , Li Dan , Łabaj Paweł P. , Pan Bohu , Novoradovskaya Natalia , Thierry-Mieg Danielle , Thierry-Mieg Jean , Chen Guangchun , Bergstrom Lucas Anne , LoCoco Jennifer S. , Richmond Todd A. , Tseng Elizabeth , Kusko Rebecca , Happe Scott , Mercer Timothy R. , Pabón-Peña Carlos , Salmans Michael , Tilgner Hagen U. , Xiao Wenzhong , Johann Donald J. , Jones Wendell , Tong Weida , Mason Christopher E. , Kreil David P. , Xu Joshua 
Published: August 2024

AbstractNext-generation sequencing (NGS) has revolutionized genomic research by enabling high-throughput, cost-effective genome and transcriptome sequencing accelerating personalized medicine for complex diseases, including cancer. Whole genome/transcriptome sequencing (WGS/WTS) provides comprehensive insights, while targeted sequencing is more cost-effective and sensitive. In comparison to short-read sequencing, which still dominates the field due to high speed and cost-effectiveness, long-read sequencing can overcome alignment limitations and better discriminate similar sequences from alternative transcripts or repetitive regions. Hybrid sequencing combines the best strengths of different technologies for a more comprehensive view of genomic/transcriptomic variations. Understanding each technology’s strengths and limitations is critical for translating cutting-edge technologies into clinical applications. In this study, we sequenced DNA and RNA libraries of reference samples using various targeted DNA and RNA panels and the whole transcriptome on both short-read and long-read platforms. This study design enables a comprehensive analysis of sequencing technologies, targeting protocols, and library preparation methods. Our expanded profiling landscape establishes a reference point for assessing current sequencing technologies, facilitating informed decision-making in genomic research and precision medicine.
Role of charge in enhanced nuclear transport and retention of graphene quantum dots
Authors: Gorav Gorav , Khedekar Vrushali , Varier Geetha K. , Nandakumar P. 
Published: August 2024

AbstractThe nuclear pore complexes on the nuclear membrane serve as the exclusive gateway for communication between the nucleus and the cytoplasm, regulating the transport of various molecules, including nucleic acids and proteins. The present work investigates the kinetics of the transport of negatively charged graphene quantum dots through nuclear membranes, focusing on quantifying their transport characteristics. Experiments are carried out in permeabilized HeLa cells using time-lapse confocal fluorescence microscopy. Our findings indicate that negatively charged graphene quantum dots exhibit rapid transport to the nuclei, involving two distinct transport pathways in the translocation process. Complementary experiments on the nuclear import and export of graphene quantum dots validate the bi-directionality of transport, as evidenced by comparable transport rates. The study also shows that the negatively charged graphene quantum dots possess favorable retention properties, underscoring their potential as drug carriers.
Correlated electron physics near a site-selective pressure-induced Mott transition in α-LiFe5O8
Authors: Layek Samar , Greenberg Eran , Levy Davide , Prakapenka Vitali , Saxena Siddharth S. , Rozenberg Gregory Kh. 
Published: August 2024

AbstractThe Mott insulator-to-metal transition (IMT) driven by electron correlations has been among the main research topics in materials science over the past decades. The complex interplay between electronic and lattice degrees of freedom leads to various transition scenarios. Of particular interest may be the case of a transition involving the formation of complex phases comprising regions that differ significantly in their physical properties within the same material. Here, we present the results that advance the understanding of the IMT phenomenon, offering the documentation of a pure site-selective mechanism that is not complicated by any structural and spin transformation. Combining XRD, resistivity, Mössbauer and Raman spectroscopy measurements, we provide evidence for a pure pressure-induced Mott transition in α-LiFe5O8, characterized by site-selective delocalization of electrons, leading to the formation, above ~65 GPa, of a site-selective Mott phase consisting of metallic and insulating sublattices. We note that the electron delocalization in the partially disordered octahedral sublattice cannot be understood purely in terms of a Mott transition, the Anderson-Mott transition picture seems more adequate.
Low methane emissions from Australian estuaries influenced by geomorphology and disturbance
Authors: Yeo Jacob Z.-Q. , Rosentreter Judith A. , Oakes Joanne M. , Eyre Bradley D. 
Published: August 2024

AbstractEstuaries are a globally important source of methane, but little is known about Australia’s contributions to global estuarine methane emissions. Here we present a first-order Australia-wide assessment of estuarine methane emissions, using methane concentrations from 47 estuaries scaled to 971 Australian estuaries based on geomorphic estuary types and disturbance classes. We estimate total mean (±standard error) estuary annual methane emissions for Australia of 30.56 ± 12.43 Gg CH4 yr−1. Estuarine geomorphology and disturbance interacted to control annual methane emissions through differences in water–air methane flux rates and surface area. Most of Australia’s estuarine surface area (89.8%) has water–air methane fluxes lower than global means, contributing 80.3% of Australia’s total mean annual estuarine methane emissions. Australia is a good analogue for the ~34% of global coastal regions classified as less than moderately disturbed (>40% intact), suggesting that these regions may also have lower methane fluxes. On this basis, recent global estuarine methane emission estimates that do not consider disturbance in their upscaling, probably overestimate global estuarine methane emissions.
EQUATOR Network Mapping Review for Dysphagia Research
Authors: Steele Catriona M. , Burdick Ryan J. , Dallal-York Justine , Shapira-Galitz Yael , Abrams Sophia Werden 
Published: August 2024

Purpose:The EQUATOR Network is an international initiative aimed at improving published health research through use of reporting guidelines. We conducted a review to determine the extent to which EQUATOR Network guidelines contain recommendations relevant for dysphagia research in human subjects.Method:We downloaded all 542 EQUATOR Network guidelines on November 8, 2022. Each guideline was reviewed by two independent raters and judged for relevance to dysphagia and related fields (e.g., otolaryngology, gastroenterology). Dysphagia-relevant guidelines pertaining to quantitative human subjects research were further inspected to identify reporting guidance regarding (a) general research elements (e.g., data collection, statistical methods), (b) participant characteristics (e.g., demographics, accrual, randomization), (c) screening and clinical/noninstrumental assessments, (d) videofluoroscopic examinations, (e) flexible endoscopic examinations, (f) other instrumentation in swallowing research, (g) dysphagia treatment, (h) patient-/care provider–reported outcome measures, and (i) any other narrowly specified focus relevant for research on swallowing. Discrepancies were resolved by consensus.Results:Of 542 guidelines, 156 addressed quantitative research in human subjects relevant to dysphagia. Of these, 104 addressed general research elements and 108 addressed participant characteristics. Only 14 guidelines partially addressed the other topics of interest, and none addressed elements relevant to reporting videofluoroscopic or endoscopic assessments of swallowing.Conclusions:We were unable to find guidelines with specific relevance to reporting key methods in dysphagia research. This lack of guidance illustrates a gap that hinders the critical appraisal of research quality in the field of dysphagia. Our review highlights the need to develop dysphagia-specific tools for critical appraisal and guidance regarding adequate research reporting.Supplemental Material:https://doi.org/10.23641/asha.25014017
HIST: Hierarchical and sequential transformer for image captioning
Authors: Lv Feixiao , Wang Rui , Jing Lihua , Dai Pengwen 
Published: August 2024

AbstractImage captioning aims to automatically generate a natural language description of a given image, and most state‐of‐the‐art models have adopted an encoder–decoder transformer framework. Such transformer structures, however, show two main limitations in the task of image captioning. Firstly, the traditional transformer obtains high‐level fusion features to decode while ignoring other‐level features, resulting in losses of image content. Secondly, the transformer is weak in modelling the natural order characteristics of language. To address theseissues, the authors propose a HIerarchical and Sequential Transformer (HIST) structure, which forces each layer of the encoder and decoder to focus on features of different granularities, and strengthen the sequentially semantic information. Specifically, to capture the details of different levels of features in the image, the authors combine the visual features of multiple regions and divide them into multiple levels differently. In addition, to enhance the sequential information, the sequential enhancement module in each decoder layer block extracts different levels of features for sequentially semantic extraction and expression. Extensive experiments on the public datasets MS‐COCO and Flickr30k have demonstrated the effectiveness of our proposed method, and show that the authors’ method outperforms most of previous state of the arts.
Integrated demand response optimization strategy considering risk appetite under multi‐dimensional uncertain information
Authors: Zheng Shunlin , Liu Yaliang , Sun Yi , Mo Xinpeng , Feng Liming , Liu Xinya , Chao Quan , Cao Wangzhang 
Published: August 2024

AbstractIntegrated demand response (IDR) is deemed as an effective tool to balance energy supply and demand. User’s uncertain information containing prior uncertain information and posterior uncertain information is a key factor affecting the implementation effectiveness of IDR, but existing studies fail to consider the two types of uncertain information, response risk caused by the uncertain information, and risk appetite comprehensively. Based on the principal‐agent theory of optimal incentive contract under uncertain information and Markowitz's mean‐variance portfolio theory, a new IDR model is established in this paper, and an IDR optimization strategy considering risk appetite under uncertain information is proposed. By proposing the user model considering multi‐dimensional uncertain information and the risk appetite‐based integrated energy service providers (IESP) model based on the principal‐agent theory and Markowitz's mean‐variance portfolio theory, we have achieved effective modelling of the user’s uncertain information and the risk borne by IESP. The arithmetic examples have verified advantages of the model in enhancing the accuracy of user’s actual response prediction and the superiority of incentive strategies, which is beneficial to reduce the cost of IESPs and enhance the benefit of users participating in IDR.
Multi‐energy complementary optimal scheduling based on hydrogen gas turbine considering the flexibility of electrolyser
Authors: Zhang Yuntian , Zhang Tiance , Liu Siwei , Li Gengyin , Zhang Yapeng , Hu Zhibing 
Published: August 2024

AbstractWith the transition towards a low‐carbon energy system, renewable energy resources have been extensively developed. However, the limited ability of the power system to absorb renewable energy sources with high volatility, such as wind and solar power, has led to significant curtailment. Redundant electric energy can be converted into storable hydrogen energy through electrolysis and utilized for heating purposes. By leveraging the complementarity of diverse energy sources, optimal allocation of renewable energy can be achieved across a broader scope. However, in the current scheduling of multi‐energy systems, the efficiency of electrolyser is crudely assumed to be a constant, which results in scheduling solutions that deviate from the Pareto optimum. Therefore, a polymer electrolyte membrane electrolyser's model with non‐linear relationship between the load rate and conversion efficiency is proposed in this paper. To tackle the non‐convex optimal scheduling challenge, an adaptive chaos‐augmented particle swarm optimization algorithm is introduced, which effectively enhances computational efficiency while preventing entrapment in local optima. Case studies based on IEEE 14‐node system verified the effectiveness of the proposed method.
Soft‐switching multiport DC‐DC converter for PV/EV applications with a bidirectional port
Authors: Maalandish Mohammad , Hosseini Seyed Hossein , Sabahi Mehran , Rostami Naghi , Khooban Mohammad‐Hassan 
Published: August 2024

AbstractThis paper proposes a new soft‐switching bidirectional multiport DC/DC converter for PV/EV applications. The proposed topology is capable of using several different sources simultaneously. Also, it has some benefits including high voltage gain, bidirectional, soft‐switching technique, and multi‐input multi‐output (MIMO) topology. In addition, all inputs of the proposed converter are separate from each other and it causes control of the outputs to be simple in the wake of the common ground of the inputs and outputs. The proposed converter can work on zero current switching (ZCS) conditions on some power semiconductors (power diode/switch) and decreases the switching and conduction losses. It also makes use of semiconductors with lower resistance on‐state (Rds‐on). Using coupled inductor techniques and working of semiconductors under ZCS conditions eliminates the total loss affected by reverse recovery of the power diodes, and a passive clamp circuit can recover the leakage energy released by the leakage inductance of the used coupled inductor. The proposed topology is built and tested in the laboratory. To confirm the accurate operation of the proposed topology, it is tested by Typhoon HIL‐404 emulator at 12 V–12 V–12 V inputs/270 W with 50 kHz switching frequency.
Seven‐level dual‐buck inverter for photovoltaic power generation
Authors: Wu Jinn‐Chang , Jou Hurng‐Liahng , Chen Fu‐Zen , Huang Han‐Xin 
Published: August 2024

AbstractA power processing system (PPS) with a seven‐level dual‐buck inverter (SLDBI) for a photovoltaic (PV) power generation system is proposed. The PPS is comprised of a boost power converter and an SLDBI. The boost power converter matches the voltage of the PV array with that of the SLDBI and functions as the maximum power point tracker for the PV array. The SLDBI consists of a dual‐buck bridge converter (DBBC) and a three‐level DC converter (TLDC). The DBBC effectively reduces leakage current in the PPS and prevents current from flowing through the parallel body diode of the power switches, allowing the use of MOSFETs as power electronic switches to enhance power efficiency. The TLDC is structured as a semi‐controlled full‐bridge system to generate a three‐level DC voltage. Besides, the DBBC and TLDC produce a seven‐level AC voltage and drive a sinusoidal current to the utility. The SLDBI reduces both the filter inductor size and the switching loss of power switches. With only six power switches, it simplifies the power circuit. A hardware prototype has been built to experimentally verify the proposed PPS.
Kopfschmerztherapie im Krankenhaus für Naturheilweisen München
Authors: Schmidt Robert 
Published: August 2024

ZusammenfassungKopfschmerzen gehören zu den häufigsten und am wenigsten greif- oder erklärbaren Schmerzen in der
täglichen Praxis. Meist handelt es sich um Spannungskopfschmerzen oder Migräneattacken, denen jeweils
unterschiedliche Ursachen zugrunde liegen und die spontan, episodisch oder chronisch auftreten. Die
Naturheilkunde verfügt über viel Erfahrungswissen zur Behandlung von Kopfschmerzen jeglicher Art, von
denen ein großer Teil im Krankenhaus für Naturheilweisen in München zur Anwendung kommen. Die
Therapiebausteine dort reichen von der Analyse und Umstellung der Ernährung und physikalischer Therapie
bis hin zu Thermotherapien und Homöopathie.