bluuebunny/crossref_metadata_2025_split huggingface dataset:
Monkeypox: epidemiology, pathogenesis, treatment and prevention
Authors: Huang Yong , Mu Li , Wang Wei 
Published: November 2022

AbstractMonkeypox is a zoonotic disease that was once endemic in west and central Africa caused by monkeypox virus. However, cases recently have been confirmed in many nonendemic countries outside of Africa. WHO declared the ongoing monkeypox outbreak to be a public health emergency of international concern on July 23, 2022, in the context of the COVID-19 pandemic. The rapidly increasing number of confirmed cases could pose a threat to the international community. Here, we review the epidemiology of monkeypox, monkeypox virus reservoirs, novel transmission patterns, mutations and mechanisms of viral infection, clinical characteristics, laboratory diagnosis and treatment measures. In addition, strategies for the prevention, such as vaccination of smallpox vaccine, is also included. Current epidemiological data indicate that high frequency of human-to-human transmission could lead to further outbreaks, especially among men who have sex with men. The development of antiviral drugs and vaccines against monkeypox virus is urgently needed, despite some therapeutic effects of currently used drugs in the clinic. We provide useful information to improve the understanding of monkeypox virus and give guidance for the government and relative agency to prevent and control the further spread of monkeypox virus.
Pure (acute) erythroid leukemia: morphology, immunophenotype, cytogenetics, mutations, treatment details, and survival data among 41 Mayo Clinic cases
Authors: Reichard Kaaren K. , Tefferi Ayalew , Abdelmagid Maymona , Orazi Attilio , Alexandres Christina , Haack Joanna , Greipp Patricia T. 
Published: November 2022

AbstractPure erythroid leukemia (PEL), also known as acute erythroid leukemia (AEL), is recognized as a distinct morphologic entity by both the 2016 and 2022 World Health Organization (WHO) classification system. By contrast, the 2022 International Consensus Classification (ICC) includes PEL under a broader category of “acute myeloid leukemia with mutated TP53”. We identified 41 Mayo Clinic cases of PEL (mean age 66 years, range 27–86; 71% males) and provide a comprehensive account of bone marrow morphology, immunophenotype, cytogenetic and mutation profiles. PEL was primary in 14 cases, therapy-related in 14, secondary in 12, and undetermined in one. All cases expressed biallelic TP53 alterations, including TP53 deletion/single TP53 mutation (68%), two TP53 mutations (29%) or two TP53 deletions (3%); additional mutations were infrequent. Karyotype was complex in all cases and monosomal in 90%. Treatment details were available in 29 patients: hypomethylating agent (HMA) alone (n = 5), HMA + venetoclax (n = 12), intensive chemotherapy (n = 4), supportive care/other (n = 8); no responses or allogeneic stem cell transplants were documented, and all patients died at a median 1.8 months (range 0.2–9.3). The current study highlights a consistent and reproducible set of morphologic and genetic characteristics that identify PEL as a distinct AML variant whose dismal prognosis requires urgent attention.
Programmable self-regulated molecular buffers for precise sustained drug delivery
Authors: Desrosiers Arnaud , Derbali Rabeb Mouna , Hassine Sami , Berdugo Jérémie , Long Valérie , Lauzon Dominic , De Guire Vincent , Fiset Céline , DesGroseillers Luc , Leblond Chain Jeanne , Vallée-Bélisle Alexis 
Published: November 2022

AbstractUnlike artificial nanosystems, biological systems are ideally engineered to respond to their environment. As such, natural molecular buffers ensure precise and quantitative delivery of specific molecules through self-regulated mechanisms based on Le Chatelier’s principle. Here, we apply this principle to design self-regulated nucleic acid molecular buffers for the chemotherapeutic drug doxorubicin and the antimalarial agent quinine. We show that these aptamer-based buffers can be programmed to maintain any specific desired concentration of free drug both in vitro and in vivo and enable the optimization of the chemical stability, partition coefficient, pharmacokinetics and biodistribution of the drug. These programmable buffers can be built from any polymer and should improve patient therapeutic outcome by enhancing drug activity and minimizing adverse effects and dosage frequency.
Miniaturized electromechanical devices with multi-vibration modes achieved by orderly stacked structure with piezoelectric strain units
Authors: Liu Jinfeng , Gao Xiangyu , Jin Haonan , Ren Kaile , Guo Jingyu , Qiao Liao , Qiu Chaorui , Chen Wei , He Yuhang , Dong Shuxiang , Xu Zhuo , Li Fei 
Published: November 2022

AbstractPiezoelectric devices based on a variety of vibration modes are widely utilized in high-tech fields to make a conversion between mechanical and electrical energies. The excitation of single or coupled vibration modes of piezoelectric devices is mainly related to the structure and property of piezoelectric materials. However, for the generally used piezoelectric materials, e.g., lead zirconate titanate ceramics, most of piezoelectric coefficients in the piezoelectric matrix are equal to zero, resulting in many piezoelectric vibration modes cannot be excited, which hinders the design of piezoelectric devices. In this work, an orderly stacked structure with piezoelectric strain units is proposed to achieve all nonzero piezoelectric coefficients, and consequently generate artificially coupled multi-vibration modes with ultrahigh strains. As an example, an orderly stacked structure with two piezoelectric strain units stator, corresponding to 31–36 coupled vibration mode, was designed and fabricated. Based on this orderly stacked structure with two piezoelectric strain units stator, we made a miniature ultrasonic motor (5 mmLength × 1.3 mmHeight × 1.06 mmWidth). Due to the ultrahigh strain of the 31–36 coupled vibration mode, the velocity per volume of the motor reached 4.66 s−1 mm−2. Furthermore, its moving resolution is around 3 nm, which is two orders higher than that of other piezoelectric motors. This work sheds a light on optimizing the performance of state-of-the-art electromechanical devices and may inspire new devices based on multi-vibration modes.
FOXA1 repression drives lineage plasticity and immune heterogeneity in bladder cancers with squamous differentiation
Authors: Warrick Joshua I. , Hu Wenhuo , Yamashita Hironobu , Walter Vonn , Shuman Lauren , Craig Jenna M. , Gellert Lan L. , Castro Mauro A. A. , Robertson A. Gordon , Kuo Fengshen , Ostrovnaya Irina , Sarungbam Judy , Chen Ying-bei , Gopalan Anuradha , Sirintrapun Sahussapont J. , Fine Samson W. , Tickoo Satish K. , Kim Kwanghee , Thomas Jasmine , Karan Nagar , Gao Sizhi Paul , Clinton Timothy N. , Lenis Andrew T. , Chan Timothy A. , Chen Ziyu , Rao Manisha , Hollman Travis J. , Li Yanyun , Socci Nicholas D. , Chavan Shweta , Viale Agnes , Mohibullah Neeman , Bochner Bernard H. , Pietzak Eugene J. , Teo Min Yuen , Iyer Gopa , Rosenberg Jonathan E. , Bajorin Dean F. , Kaag Matthew , Merrill Suzanne B. , Joshi Monika , Adam Rosalyn , Taylor John A. , Clark Peter E. , Raman Jay D. , Reuter Victor E. , Chen Yu , Funt Samuel A. , Solit David B. , DeGraff David J. , Al-Ahmadie Hikmat A. 
Published: November 2022

AbstractCancers arising from the bladder urothelium often exhibit lineage plasticity with regions of urothelial carcinoma adjacent to or admixed with regions of divergent histomorphology, most commonly squamous differentiation. To define the biologic basis for and clinical significance of this morphologic heterogeneity, here we perform integrated genomic analyses of mixed histology bladder cancers with separable regions of urothelial and squamous differentiation. We find that squamous differentiation is a marker of intratumoral genomic and immunologic heterogeneity in patients with bladder cancer and a biomarker of intrinsic immunotherapy resistance. Phylogenetic analysis confirms that in all cases the urothelial and squamous regions are derived from a common shared precursor. Despite the presence of marked genomic heterogeneity between co-existent urothelial and squamous differentiated regions, no recurrent genomic alteration exclusive to the urothelial or squamous morphologies is identified. Rather, lineage plasticity in bladder cancers with squamous differentiation is associated with loss of expression of FOXA1, GATA3, and PPARG, transcription factors critical for maintenance of urothelial cell identity. Of clinical significance, lineage plasticity and PD-L1 expression is coordinately dysregulated via FOXA1, with patients exhibiting morphologic heterogeneity pre-treatment significantly less likely to respond to immune checkpoint inhibitors.
Enhancer decommissioning by MLL4 ablation elicits dsRNA-interferon signaling and GSDMD-mediated pyroptosis to potentiate anti-tumor immunity
Authors: Ning Hanhan , Huang Shan , Lei Yang , Zhi Renyong , Yan Han , Jin Jiaxing , Hu Zhenyu , Guo Kaimin , Liu Jinhua , Yang Jie , Liu Zhe , Ba Yi , Gao Xin , Hu Deqing 
Published: November 2022

AbstractEnhancer deregulation is a well-established pro-tumorigenic mechanism but whether it plays a regulatory role in tumor immunity is largely unknown. Here, we demonstrate that tumor cell ablation of mixed-lineage leukemia 3 and 4 (MLL3 and MLL4, also known as KMT2C and KMT2D, respectively), two enhancer-associated histone H3 lysine 4 (H3K4) mono-methyltransferases, increases tumor immunogenicity and promotes anti-tumor T cell response. Mechanistically, MLL4 ablation attenuates the expression of RNA-induced silencing complex (RISC) and DNA methyltransferases through decommissioning enhancers/super-enhancers, which consequently lead to transcriptional reactivation of the double-stranded RNA (dsRNA)-interferon response and gasdermin D (GSDMD)-mediated pyroptosis, respectively. More importantly, we reveal that both the dsRNA-interferon signaling and GSDMD-mediated pyroptosis are of critical importance to the increased anti-tumor immunity and improved immunotherapeutic efficacy in MLL4-ablated tumors. Thus, our findings establish tumor cell enhancers as an additional layer of immune evasion mechanisms and suggest the potential of targeting enhancers or their upstream and/or downstream molecular pathways to overcome immunotherapeutic resistance in cancer patients.
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Authors: Leitão Elsa , Schröder Christopher , Parenti Ilaria , Dalle Carine , Rastetter Agnès , Kühnel Theresa , Kuechler Alma , Kaya Sabine , Gérard Bénédicte , Schaefer Elise , Nava Caroline , Drouot Nathalie , Engel Camille , Piard Juliette , Duban-Bedu Bénédicte , Villard Laurent , Stegmann Alexander P. A. , Vanhoutte Els K. , Verdonschot Job A. J. , Kaiser Frank J. , Tran Mau-Them Frédéric , Scala Marcello , Striano Pasquale , Frints Suzanna G. M. , Argilli Emanuela , Sherr Elliott H. , Elder Fikret , Buratti Julien , Keren Boris , Mignot Cyril , Héron Delphine , Mandel Jean-Louis , Gecz Jozef , Kalscheuer Vera M. , Horsthemke Bernhard , Piton Amélie , Depienne Christel 
Published: November 2022

AbstractDisease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of genes involved in cognition, language, and seizures on chrX compared to autosomes. We analyze gene constraints, exon and promoter conservation, expression, and paralogues, and report 127 genes sharing one or more attributes with known chrX disorder genes. Using machine learning classifiers trained to distinguish disease-associated from dispensable genes, we classify 247 genes, including 115 of the 127, as having high probability of being disease-associated. We provide evidence of an excess of variants in predicted genes in existing databases. Finally, we report damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism spectrum disorders. This study predicts large-scale gene-disease associations that could be used for prioritization of X-linked pathogenic variants.
L-threonine promotes healthspan by expediting ferritin-dependent ferroptosis inhibition in C. elegans
Authors: Kim Juewon , Jo Yunju , Cho Donghyun , Ryu Dongryeol 
Published: November 2022

AbstractThe pathways that impact longevity in the wake of dietary restriction (DR) remain still ill-defined. Most studies have focused on nutrient limitation and perturbations of energy metabolism. We showed that the L-threonine was elevated in Caenorhabditis elegans under DR, and that L-threonine supplementation increased its healthspan. Using metabolic and transcriptomic profiling in worms that were fed with RNAi to induce loss of key candidate mediators. L-threonine supplementation and loss-of-threonine dehydrogenaseincreased the healthspan by attenuating ferroptosis in a ferritin-dependent manner. Transcriptomic analysis showed that FTN-1 encoding ferritin was elevated, implying FTN-1 is an essential mediator of longevity promotion. Organismal ferritin levels were positively correlated with chronological aging and L-threonine supplementation protected against age-associated ferroptosis through the DAF-16 and HSF-1 pathways. Our investigation uncovered the role of a distinct and universal metabolite, L-threonine, in DR-mediated improvement in organismal healthspan, suggesting it could be an effective intervention for preventing senescence progression and age-induced ferroptosis.
Microwave mode cooling and cavity quantum electrodynamics effects at room temperature with optically cooled nitrogen-vacancy center spins
Authors: Zhang Yuan , Wu Qilong , Wu Hao , Yang Xun , Su Shi-Lei , Shan Chongxin , Mølmer Klaus 
Published: November 2022

AbstractRecent experimental and theoretical studies demonstrated microwave mode cooling and cavity quantum electrodynamics (C-QED) effects at room temperature by using optically cooled nitrogen-vacancy (NV) spins. In this article, we consider improvements of these effects by exploring parameters in recent diamond maser experiments with a high frequency microwave resonator. By accounting for the rich electronic and spin levels, we provide a more complete treatment of optical pumping and dissipation in NV centers, and study the dependence of system performance on laser power. We predict the reduction of microwave photon number down to 261 (equivalent to a temperature of 116 K), about five times lower than the values reported recently. We also predict the laser-power controlled C-QED effects across weak-to-strong coupling regimes, and observe saturation of these effects under strong laser pumping. Our model can be modified straightforwardly to investigate similar effects with other solid-state spins and possible C-QED effects in maser operation.
Deep learning application of the discrimination of bone marrow aspiration cells in patients with myelodysplastic syndromes
Authors: Lee Nuri , Jeong Seri , Park Min-Jeong , Song Wonkeun 
Published: November 2022

AbstractMyelodysplastic syndromes (MDS) are a group of hematologic neoplasms accompanied by dysplasia of the bone marrow hematopoietic cells with cytopenia. Detecting dysplasia is important in the diagnosis of MDS, but it takes considerable time and effort. Also, since the assessment of dysplasia is subjective and difficult to quantify, a more efficient tool is needed for quality control and standardization of bone marrow aspiration smear interpretation. In this study, we developed and evaluated an algorithm to automatically discriminate hematopoietic cell lineages and detect dysplastic cells in bone marrow aspiration smears using deep learning technology. Bone marrow aspiration images were acquired from 34 patients diagnosed with MDS and from 24 normal bone marrow slides. In total, 8065 cells were classified into eight categories: normal erythrocytes, normal granulocytes, normal megakaryocytes, dysplastic erythrocytes, dysplastic granulocytes, dysplastic megakaryocytes, blasts, and others. The algorithm demonstrated acceptable performance in classifying dysplastic cells, with an AUC of 0.945–0.996 and accuracy of 0.912–0.993. The algorithm developed in this study could be used as an auxiliary tool for diagnosing patients with MDS and is expected to contribute to shortening the time required for MDS bone marrow aspiration diagnosis and standardizing visual reading.
Hydrogen permeation through steel during cathodic polarization of lubricating oils in a modified Devanathan–Stachurski cell
Authors: Boiadjieva-Scherzer Tz. , Mirkova L. , Fafilek G. , Reinbold J. , Kronberger H. , Stache H. , Bodesheim G. , Monev M. 
Published: November 2022

AbstractIn lubricated tribo-contacts, hydrogen ingress in steel is possible due to chemical reactions of lubricant components like base oils or additives, and/or contamination upon service particularly water, and/or corrosion processes, and/or electrostatic fields or current flow. Absorbed by the metal, atomic hydrogen may cause serious deleterious effects on the physical–chemical and mechanical properties, reducing the material’s ability to withstand the design loads. The present research work is focused on analyzing the influence of electric field on lubricating oils in contact with steel surface. In order to evaluate the possibility of atomic hydrogen generation and permeation into the steel under cathodic polarization of lubricating oils the electrochemical permeation technique developed by Devanathan and Stachurski is used. The input cell of a Devanathan–Stachurski set up is appropriately modified by realizing a very close distance between the working electrode (steel membrane) and a Pt counter electrode with the oil between. This significantly increases the sensibility of the set up and allows the application of larger voltage and higher temperature to enable hydrogen generation from lubricating oils. The complex effects of cathodic polarization, temperature, additives and presence of water in model lubricating oils on atomic hydrogen permeation into steel is discussed.
Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1 deficiency were detected in the Indian ADHD probands
Authors: Chatterjee Mahasweta , Saha Sharmistha , Dutta Nilanjana , Sinha Swagata , Mukhopadhyay Kanchan 
Published: November 2022

AbstractExecutive dysfunctions caused by structural and functional abnormalities of the prefrontal cortex were reported in patients with Attention deficit hyperactivity disorder (ADHD). Owing to a higher expression of the glutamate ionotropic receptor kainate type subunit 1 (GluK1), encoded by the GRIK1 gene, in brain regions responsible for learning and memory, we hypothesized that GRIK1 might have a role in ADHD. GRIK1 variants rs363504 and rs363538, affecting the receptor function, were analyzed by case–control and family-based methods to identify the association with ADHD. The impact of these variants on ADHD-associated traits and pharmacological intervention were also analyzed. GRIK1 expression was quantified in the peripheral blood. The probands and their fathers had a higher frequency of rs363504 ‘CC’ and rs363538 ‘CA’ genotypes. Family-based investigation revealed maternal over transmission of rs363504 ‘C’ and rs363538 ‘A’ alleles to the probands. Quantitative trait analysis exhibited an association of rs363504 ‘TT’ and rs363538 ‘AA’ genotypes with higher hyperactivity scores of the probands. In the presence of rs363504 ‘TT’ and rs363538 ‘CC’ genotypes, MPH treatment improved hyperactivity and inattention, respectively. GRIK1 expression was significantly downregulated in the probands. We infer that GRIK1 affects ADHD etiology, warranting further in-depth investigation involving a larger cohort and more functional variants.
Electrodeposition of Ni–Mo alloy coatings from choline chloride and propylene glycol deep eutectic solvent plating bath
Authors: Niciejewska Anna , Ajmal Aleeza , Pawlyta Mirosława , Marczewski Marek , Winiarski Juliusz 
Published: November 2022

AbstractNi–Mo alloy coatings were deposited on a copper base material from a non-aqueous plating bath based on a deep eutectic solvent (DES) of choline chloride and propylene glycol in a 1:2 molar ratio containing 0.2 mol dm−3NiCl2· 6H2O and 0.01 mol dm−3(NH4)6Mo7O24·4H2O. Uniform and adherent Ni–Mo deposits with a nodular morphology were obtained at all the deposition potentials investigated (from − 0.5 to − 0.9 V vs. Ag). By shifting the potential from − 0.5 to − 0.9 V, the deposition current density increased from − 0.4 to − 1.5 mA cm−2and the overall surface roughness increased. It was also accompanied by an increase in the Mo content from ~ 7 to ~ 13 wt% in the potential range from − 0.5 to − 0.7 V. A further change in the potential from − 0.8 to − 0.9 V caused a decrease in the Mo content to ~ 10 wt% and a deterioration in the quality of the coating. For the most uniform coating, deposited at − 0.6 V and having a thickness of ca. 660 nm, the crystallite size did not exceed 10 nm. With the content of Ni (89 at.%) and Mo (11 at.%), the selected area electron diffraction (SAED) analysis allowed us to identify the cubic phase Ni3.64Mo0.36. The corrosion resistance of Ni–Mo coatings in 0.05 mol dm−3NaCl solution generally increased during exposure of 18 h, as evidenced by ever higher polarization resistance. Finally, regardless of the applied deposition potential, low corrosion currents (in the range of 0.1–0.3 μA cm−2) have been measured for the coatings. EIS revealed that charge transfer resistances were the highest (57–67 kΩ cm2) for coatings deposited at − 0.5 V, − 0.6 V and − 0.7 V. Further increase in the deposition potential in the negative direction was unfavorable.
Effect of high-pressure D2 and H2 annealing on LFN properties in FD-SOI pTFET
Authors: Shin Hyun-Jin , Eadi Sunil Babu , An Yeong-Jin , Ryu Tae-Gyu , Kim Do-woo , Lee Hi-Deok , Kwon Hyuk-Min 
Published: November 2022

AbstractTunneling field-effect transistors (TFETs) are a promising candidate for the next generation of low-power devices, but their performance is very sensitive to traps near the tunneling junction. This study investigated the effects of high-pressure deuterium (D2) annealing and hydrogen (H2) annealing on the electrical performance and low-frequency noise (LFN) of a fully depleted silicon-on-insulator p-type TFET. Without high-pressure annealing, the typical noise power spectral density exhibited two Lorentzian spectra that were affected by fast and slow trap sites. With high-pressure annealing, the interface trap density related to fast trap sites was reduced. The passivation of traps near the tunneling junction indicates that high-pressure H2 and D2 annealing improves the electrical performance and LFN properties, and it may become a significant and necessary step for realizing integrated TFET technology in the future.