bluuebunny/crossref_metadata_2025_split huggingface dataset:
Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies
Authors: Kamenarova Kunka , Mihova Kalina , Veleva Nevyana , Mermeklieva Elena , Mihaylova Bilyana , Dimitrova Galina , Oscar Alexander , Shandurkov Iliyan , Cherninkova Sylvia , Kaneva Radka 
Published: June 2022

AbstractBackgroundNext‐generation sequencing (NGS)‐based method is being used broadly for genetic testing especially for clinically and genetically heterogeneous disorders, such as inherited retinal degenerations (IRDs) but still not routinely used for molecular diagnostics in Bulgaria. Consequently, the purpose of this study was to evaluate the effectiveness of a molecular diagnostic approach, based on targeted NGS for the identification of the disease‐causing mutations in 16 Bulgarian patients with different IRDs.MethodsWe applied a customized NGS panel, including 125 genes associated with retinal and other eye diseases to the patients with hereditary retinopathies.ResultsSystematic filtering approach coupled with copy number variation analysis and segregation study lead to the identification of 16 pathogenic and likely pathogenic variants in 12/16 (75%) of IRD patients, 2 of which novel (12.5%): ABCA4‐c.668delA (p.K223Rfs18) and RР1‐c.2015dupA (p.K673Efs*25). Mutations in the ABCA4, PRPH2, USH2A, BEST1, RР1, CDHR1, and RHO genes were detected reaching a diagnostic yield between 42.9% for Retinitis pigmentosa cases and 100% for macular degeneration, Usher syndrome, and cone‐rod dystrophy patients.ConclusionOur results confirm the usefulness of targeted NGS approach based on frequently mutated genes as a comprehensive and successful genetic diagnostic tool for IRDs with significant impact on patients counseling.
Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study
Authors: Chen Hong , Lin Peng , Yuan Xin , Chen Ruimin 
Published: June 2022

AbstractBackgroundPersistent Müllerian duct syndrome (PMDS) is an autosomal recessive congenital abnormality in which Müllerian derivatives, uterus, cervix, upper two‐thirds of the vagina, and fallopian tubes persist in otherwise normally virilized males. Mutations in anti‐Müllerian hormone (AMH) and AMH receptor type II (AMHR2) genes have been identified as causative. However, functional experimental analysis of AMHR2 or AMH variants that cause PMDS is still lacking.Materials and MethodsA Chinese Han family affected by PMDS was identified. To assess the history and clinical manifestations of PMDS, physical, operational, ultrasonographical, pathological, and other examinations were performed on family members. The variant screening was conducted using trio whole‐exome sequencing (trio WES) and Sanger sequencing. Complementation‐based NanoLuciferase Binary Technology (NanoBiT) was used to examine the interaction between AMH and AMHR2 variants in vivo. The effect of the two variants on the transcriptional activity of the TGFβ/BMP pathway was evaluated using a luciferase assay.ResultsClassic phenotypic manifestations of PMDS in a pair of identical twins were described and confirmed by genetic sequence analysis. Molecular studies revealed two novel variants c.118G > C [p.(Gly40Arg)], c.1222G > C [p.(Ala408Pro)] in the AMHR2 gene. The AMHR2 p.Gly40Arg variant reduces its ability to bind to AMH, while the p.Ala408Pro variant alters the kinase domain structure. Both variants significantly reduce TGFβ/BMP signaling.ConclusionTwo missense AMHR2 variants associated with PMDS were identified. These findings provide novel insights toward better clinical evaluation and further understanding of the molecular basis of PMDS.
C, X, and Ku three‐band tunable metamaterial absorber based on varactor diodes
Authors: Li Zihan , Jiang Yannan , Liang Yulin , Tian Shuo , Chen Mingsong 
Published: June 2022

AbstractA three‐band tunable polarization‐insensitive metamaterial absorber is proposed in this paper. The unit cell of the absorber is composed of a dielectric substrate, a metal patch, and four varactor diodes welded on the top layer. A simple metal via bias network is designed to facilitate the absorption frequency tuning of the absorber. The simulation results show that when there is no bias voltage (0 V), the proposed absorber has three absorption peaks of 88%, 99.5%, and 99.8% under normal incidence at 7.27, 10.93, and 15.84 GHz, respectively. Furthermore, by adjusting the reverse bias voltage (0–19 V) of the varactor, the first absorption peak of the absorber can be tuned from 7.27 to 8.2 GHz and the second absorption peak tuned from 10.93 to 11.4 GHz. Meanwhile, the tuning range for the third absorption peak is 15.84–16.1 GHz. Furthermore, the three‐band absorption and frequency tunable characteristics of the absorber are confirmed by experimental tests.
Dual mode dielectric resonator filter with a new source coupling slot approach
Authors: Ekici Saim , Yazgan Erdem 
Published: June 2022

AbstractIn this study, a Ka‐band dual‐mode dielectric resonator filter is studied. As a new approach, to mount the dielectric resonator on the input coupling slot, a mechanical protrusion is designed. By use of this structure, controlled source coupling and excitation via waveguide can be allowed. Compared with coaxial cable excitation, waveguide excitation allows high power handling capacity and less insertion loss.
Efficient approach for modeling substrate integrated waveguides
Authors: Liu Yuanzhi , Mu Hongyu , Yagoub Mustapha C. E. , Bai Guo 
Published: June 2022

AbstractIn this letter, a highly accurate surrogate model of substrate integrated waveguide (SIW) is proposed. This model allows designers to design SIW structures more efficiently compared to existing complex and CPU‐intensive fine approaches. Based on the multivariate linear regression technique, an accurate equation linking the physical parameters of the proposed surrogate but simple model to the fine but complex model was obtained. The accuracy and efficiency of the proposed modeling procedure were demonstrated through a practical design example.
Development of a novel 10‐echo multi‐contrast sequence based on EPIK to deliver simultaneous quantification of T2 and T2* with application to oxygen extraction fraction
Authors: Küppers Fabian , Yun Seong Dae , Shah N. Jon 
Published: June 2022

PurposeThe simultaneous quantification of T2 and T2* maps based on fast sequences for combined GE and SE acquisition has rekindled research and clinical interest by offering a wide range of attractive applications, e.g., dynamic tracking of oxygen extraction fraction (OEF). However, previously published methods based on EPI‐readouts have been hindered by resolution and the number of acquired echoes.MethodsThis work presents a novel 10‐echo GE‐SE EPIK (EPI with keyhole) sequence for the rapid quantification of T2'. T2/T2* maps from the GE‐SE EPIK sequence were validated using three phantoms and 15 volunteers at 3T. The incorporation of a sliding window approach, combined with the full sampling of the k‐space center inherent to EPIK, enables a high effective temporal resolution. That is, for an eight‐slice breath‐hold experiment, a temporal sampling rate of eight reconstructed slices per 1.1 s.ResultsIn comparison with repeated single‐echo SE, multi‐echo GE, and spectroscopy methods, the GE‐SE EPIK sequence shows good agreement in quantifying T2/T2* values, while the gray matter/white matter separation yielded the expected contrast differentiation. The OEF was calculated with a view to an initial application with clinical relevance, producing results comparable to those in the literature and with good sensitivity in breath‐hold experiments.ConclusionsGE‐SE EPIK provides increased resolution and more echoes, including two SEs, than comparable sequences. Moreover, GE‐SE EPIK achieves this within an acquisition time of 57 s for 20 slices (matrix size = 128×128; FOV = 24 cm) and with a reasonably short TE for the final echo (114 ms). The sequence can dynamically track OEF changes in a breath‐hold experiment.
Multi‐phase‐field microporomechanics model for simulating ice‐lens growth in frozen soil
Authors: Suh Hyoung Suk , Sun WaiChing 
Published: June 2022

AbstractThis article presents a multi‐phase‐field poromechanics model that simulates the growth and thaw of ice lenses and the resultant frozen heave and thaw settlement in multi‐constituent frozen soils. The growth of segregated ice inside the freezing‐induced fracture is implicitly represented by the evolution of two‐phase fields that indicate the locations of segregated ice and the damaged zone, respectively. The evolution of two‐phase fields is induced by their own driving forces that capture the physical mechanisms of ice and crack growths, respectively, while the phase‐field governing equations are coupled with the balance laws such that the coupling among heat transfer, solid deformation, fluid diffusion, crack growth, and phase transition can be replicated numerically. Unlike phenomenological approaches that indirectly capture the freezing influence on the shear strength, the multiphase‐field model introduces an immersed approach where both the homogeneous freezing and the ice‐lens growth are distinctively captured by the freezing characteristic function and the driving force accordingly. Verification and validation examples are provided to demonstrate the capacities of the proposed models.
Estimating Monthly Poverty Rates in the United States
Authors: Parolin Zachary , Curran Megan , Matsudaira Jordan , Waldfogel Jane , Wimer Christopher 
Published: June 2022

AbstractOfficial poverty estimates for the United States are presented annually, based on a family unit's annual resources, and reported with a considerable lag. This study introduces a framework to produce monthly estimates of the Supplemental Poverty Measure and official poverty measure, based on a family unit's monthly income, and with a two‐week lag. We argue that a shorter accounting period and more timely estimates of poverty better account for intra‐year income volatility and better inform the public of current economic conditions. Our framework uses two versions of the Current Population Survey to estimate monthly poverty while accounting for changes in policy, demographic composition, and labor market characteristics. Validation tests demonstrate that our monthly poverty estimates closely align with observed trends in the Survey of Income & Program Participation from 2004 to 2016 and trends in hardship during the COVID‐19 pandemic. We apply the framework to measure trends in monthly poverty from January 1994 through September 2021. Monthly poverty rates generally declined in the 1990s, increased throughout the 2000s, and declined after the Great Recession through the onset of the COVID‐19 pandemic. Within‐year variation in monthly poverty rates, however, has generally increased. Among families with children, within‐year variation in monthly poverty rates is comparable to between‐year variation, largely due to the average family with children receiving 37 percent of its annual income transfers in a single month through one‐time tax credit payments. Moving forward, researchers can apply our framework to produce monthly poverty rates whenever more timely estimates are desired.
Nonpenetrating repeated impact effect to the damage behavior of prestressed glass/epoxy composite pipes
Authors: Kepir Yusuf , Gunoz Alper , Kara Memduh 
Published: June 2022

AbstractGlass‐reinforced plastic (GRP) composite pipes, the use of which has been increasing rapidly in many areas in recent years, may be exposed to the impact of different objects during assembly, operation, repair, and maintenance. Since composite materials are sensitive to impacts, it is vital to examine damage to the material. In this study, the repeated impact response of GRP composite pipes under internal hydrostatic pressure was investigated. In order to simulate different operating conditions on the GRP samples, a prestress was created by applying 4, 16, and 32 bar internal hydrostatic pressure. Then, the prestressed pipes were subjected to low velocity repeated impact tests. As a result of repeated impact tests at low velocity, changes in maximum displacement amount, maximum contact force, energy absorption capacity, and impact velocity were evaluated depending on the number of impacts applied to the samples. The changes in the strength of the samples subjected to repeated impact tests at different internal pressure levels were determined by the hoop tensile tests performed according to the ASTM D2290 standard. As a result of the hoop tensile tests, the variation of the material's tangential tensile strength and damage behavior according to impacts' number and the prestress were investigated.
Fabrication of electroactive poly(γ‐glutamic acid) coating for improving corrosion resistance and cytocompatibility of magnesium alloy
Authors: Dai Miao , Li Siyuan , Cui Yan , Zhang Wei , Shi Hui , Pan Kai , Wei Wei , Liu Xiaoya , Li Xiaojie 
Published: June 2022

AbstractAlthough magnesium (Mg) and its alloys are promising biodegradable materials for orthopedic implants, rapid and uncontrollable degradation of Mg is still a challenge for clinical applications. In this work, electroactive polymer coatings were prepared to improve the corrosion resistance and cytocompatibility of Mg alloys. Amphiphilic electroactive tetraaniline (TANi)‐conjugated poly(γ‐glutamic acid) (γ‐PGA) with various TANi modification rates (γ‐PGA–TANi10, γ‐PGA–TANi20, γ‐PGA–TANi27) were first synthesized. γ‐PGA–TANi colloidal particles, prepared by a self‐assembly method, were then coated on Mg alloys by electrophoretic deposition. The prepared γ‐PGA–TANi coatings showed a homogeneous surface and good adhesion on AZ31 Mg alloys. Electrochemical analysis and in vitro immersion tests revealed that γ‐PGA–TANi‐coated Mg exhibited superior corrosion resistance, which was mainly attributed to the electroactivity of the γ‐PGA–TANi coatings, leading to the rapid formation of a passivation layer to prevent the further corrosion of Mg alloys. Furthermore, the γ‐PGA–TANi alloy coatings efficiently regulated Mg2+ release and pH value of coated Mg alloy during immersion for 40 days. In comparison with bare Mg alloy, the coated Mg alloy also showed better cytocompatibility, where L929 cells emerged with a good cell adhesion and viability. These results indicate that electroactive γ‐PGA–TANi coatings have promising potential for corrosion resistance of Mg alloys. © 2022 Society of Industrial Chemistry.
Hygroscopic fluorine‐doped silicon oxide thin‐film‐based large‐area three‐layered moisture barrier using a roll‐to‐roll microwave plasma‐enhanced chemical vapor deposition system
Authors: Lee Won Jae , Cho Tae‐Yeon , Eom Ji‐Ho , Park Jae‐Seong , Ryu Juwhan , Cho Seong‐Keun 
Published: June 2022

AbstractIn this study, we fabricated an optically transparent and flexible SiNx/SiOF/SiNx (NFN) moisture barrier film using a highly hygroscopic fluorine‐doped silicon oxide (SiOF) thin film and a low moisture permeable silicon nitride (SiNx) thin film. The NFN three‐layered moisture barrier with SiOF (SiF4/N2O gas ratio, R = 1) was deposited in an in‐situ process to eliminate contamination in the atmosphere between the SiNx and SiOF thin films. The NFN moisture barrier achieved a water‐vapor transmission rate (WVTR) of approximately 3.94 × 10−4 g m−2 day−1 at R = 1. Additionally, the NFN three‐layered thin film showed a very high visible light transmittance of approximately 93.32% that is can be used in optical applications like display, solar cells, and so on.
Clinical implications of homologous recombination repair mutations in prostate cancer
Authors: Cresta Morgado Pablo , Mateo Joaquin 
Published: June 2022

AbstractProstate cancer is a disease with significant interpatient genomics, with a proportion of patients presenting mutations in key homologous recombination repair (HRR) gene aberrations, particularly in late‐stage disease. A better understanding of the genomic landscape of prostate cancer and the prognostic and predictive value of HRR mutations could lead to more precise care for prostate cancer patients.BRCA1/2mutations are associated with a more aggressive disease course and higher risk of developing lethal prostate cancer, but also identify patients who could benefit from directed therapeutic strategies with PARP inhibitors. Other HRR mutations are also frequent but their prognostic and predictive value for prostate cancer patients is less clear. Moreover, a proportion of these mutations are associated with inherited germline defects, being relevant for the patients' risk of second malignancies but also to inform their relatives' risk of cancer through cascade testing. In this manuscript, we review current knowledge of the prognostic and predictive value for different HHR alterations across the different prostate cancer disease states. Additionally, we assess the challenges to implement genomic testing in clinical practice for prostate cancer patients.
Hybridization of ResNet with YOLO classifier for automated paddy leaf disease recognition: An optimized model
Authors: Ganesan Gangadevi , Chinnappan Jayakumar 
Published: June 2022

AbstractPaddy is the most significant crop utilized by more than 2.6 billion people. The paddy crops are affected by various diseases that are unidentified and reduced the production of crop yield. Nowadays, the plants diseases and pests spread increasingly due to the climate change, trade, and globalization. The plant pathogens can be viral, fungal, nematodes or bacterial that affects all parts of the plants. The challenging tasks are to determine the symptoms and identify the controlling measures of the plant diseases. The plant leaves can be affected by numerous diseases, which results in destruction in terms of crop field to various social and economic aspects. The deep structured architectures and machine learning are implemented in the conventional models for detecting the leaf diseases. Hence, the main intention of this study is to develop the novel model for paddy leaf disease recognition using the hybrid deep learning. Initially, the input paddy leaf images are collected from standard sources that undergo filtering and contrast enhancement approaches. Further, the segmentation of the abnormal region of the paddy leaf is done by “adaptive K‐means clustering.” This is also accomplished by the Fitness Sorted‐Shark Smell Optimization (FS‐SSO). With the segmented images, the recognition of the disease is performed by the hybrid deep learning using the Resnet and YOLO classifier. As the modification, the fully connected layer of the ResNet model is replaced by the YOLO classifier for disease recognition. The significant parameters of the hybrid deep learning are optimized by the FS‐SSO for attaining the high recognition rate. Experimental analysis is performed for computing the performance metrics and the accuracy of the classification for evaluating the efficiency of the suggested method.
Ti3C2TX MXene Modified with ZnTCPP with Bacteria Capturing Capability and Enhanced Visible Light Photocatalytic Antibacterial Activity
Authors: Cheng Hao , Wang Jiameng , Yang Yongqiang , Shi Huixian , Shi Jing , Jiao Xiong , Han Peide , Yao Xiaohong , Chen Weiyi , Wei Xiaochun , Chu Paul K , Zhang Xiangyu 
Published: June 2022

AbstractLight‐assisted antibacterial therapy is a promising alternative to antibiotic therapy due to the high antibacterial efficacy without bacterial resistance. Recent research has mainly focused on the use of near‐infrared light irradiation to kill bacteria by taking advantage of the synergistic effects rendered by hyperthermia and radical oxygen species. However, photocatalytic antibacterial therapy excited by visible light is more convenient and practical, especially for wounds. Herein, a visible light responsive organic‐inorganic hybrid of ZnTCPP/Ti3C2TX is designed and fabricated to treat bacterial infection with antibacterial efficiency of 99.86% and 99.92% within 10 min against Staphylococcus aureus and Escherichia coli, respectively. The porphyrin‐metal complex, ZnTCPP, is assembled on the surface of Ti3C2TX MXene to capture bacteria electrostatically and the Schottky junction formed between Ti3C2TX and ZnTCPP promotes visible light utilization, accelerates charge separation, and enhances the mobility of photogenerated charges, and finally increases the photocatalytic activity. As a result of the excellent bacteria capturing ability and photocatalytic antibacterial effects, ZnTCPP/Ti3C2TX exposed to visible light has excellent antibacterial properties in vitro and in vivo. Therefore, organic‐inorganic materials that have been demonstrated to possess good biocompatibility and enhance wound healing have large potential in bio‐photocatalysis, antibacterial therapy, as well as antibiotics‐free treatment of wounds.
Three‐dimensional transvaginal ultrasound vs magnetic resonance imaging for preoperative staging of deep myometrial and cervical invasion in patients with endometrial cancer: systematic review and meta‐analysis
Authors: Spagnol G. , Noventa M. , Bonaldo G. , Marchetti M. , Vitagliano A. , Laganà A. S. , Cavallin F. , Scioscia M. , Saccardi C. , Tozzi R. 
Published: June 2022

ABSTRACTObjectivesTo evaluate and compare the diagnostic test accuracy (DTA) of three‐dimensional transvaginal ultrasound (3D‐TVS) and magnetic resonance imaging (MRI) for deep myometrial infiltration (DMI) and cervical invasion for preoperative staging and surgery planning in patients with endometrial cancer (EC).MethodsThis systematic review and meta‐analysis investigated the DTA of MRI and 3D‐TVS for DMI and cervical invasion in patients with EC. A literature search was performed using MEDLINE, Scopus, EMBASE, ScienceDirect, The Cochrane library,
ClinicalTrials.gov, Cochrane Central Register of Controlled Trials, EU Clinical Trials Register and World Health Organization International Clinical Trials Registry Platform to identify relevant studies published between January 2000 and December 2021. Study quality was assessed using the Quality Assessment of Diagnostic Accuracy Studies‐2 (QUADAS‐2) tool.ResultsFive studies, including a total of 450 patients, were included in the systematic review. All five studies compared the DTA of 3D‐TVS vs MRI for DMI, and three studies compared the DTA of 3D‐TVS vs MRI for cervical invasion. Pooled sensitivity, positive likelihood ratio and negative likelihood ratio for detecting DMI using 3D‐TVS were 77% (95% CI, 66–85%), 4.57 and 0.31, respectively. The respective values for detecting DMI on MRI were 80% (95% CI, 73–86%), 4.22 and 0.24. Bivariate metaregression indicated a similar DTA of 3D‐TVS and MRI (P = 0.80) for the correct identification of DMI. Pooled ln diagnostic odds ratio for detecting cervical invasion was 3.11 (95% CI, 2.09–4.14) for 3D‐TVS and 2.36 (95% CI, 0.90–3.83) for MRI. The risk of bias was low for most of the four domains assessed in QUADAS‐2.Conclusion3D‐TVS demonstrated good diagnostic accuracy in terms of sensitivity and specificity for the evaluation of DMI and cervical invasion, with results comparable with those of MRI. Thus, we confirmed the potential role of 3D‐TVS in the preoperative staging and surgery planning in patients with EC. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.