bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense‐mediated mRNA degradation (NMD) simultaneously in a Chinese family
Authors: Qiu Cong , Li Chengyan , Tong Xiaoyun , Dai Luoyang , Liu Wenda , Xie Yulie , Zhang Qimei , Yang Guohua , Li Tao 
Published: July 2020

AbstractBackgroundTuberous sclerosis complex (TSC), belongs to autosomal dominant genetic disorder, which affects multiple organ systems in the body, including the skin, brain, lungs, kidneys, liver, and eyes. Mutations in TSC1 or TSC2 was proved to be associated with these conditions.MethodsGene‐panel Sequence of NGS was used to detect the mutation in a Chinese family. The research further investigates whether aberrant splicing and nonsense‐mediated mRNA degradation (NMD) could serve as a mechanism cause by TSC1 mutation. MINI‐Gene assay apply by pcMINI‐TSC1wt/mut plasmids delivered in HeLa and 293T cell lines. Recombinant plasmids expressing wild‐type and mutant‐type EGFP‐TSC1 were constructed and transiently transfected into human embryonic kidney cells 293T by lipofectamine. Real‐time PCR and Western Blot were performed to analyze the expression of mRNAs and proteins of EGFP‐TSC1 and NMD factor UPF1.ResultsThe gene test verified a novel heterozygous TSC1 frameshift mutation (TSC1 c.1550_1551del) in the proband and her mother. From MINI‐Gene assay, the agarose gel showed that both the mutant and wild‐type mRNA possess two main bands, indicating two splicing modes, named band A and B, respectively. The mutation c.1550_1551del has not produced new splicing site, but there is a selective splicing in varying degree significantly after mutation. On the contrary, function validation assay showed that cells transfected with the mutant TSC1 plasmids expressed significantly lower TSC1 in mRNAs and proteins levels, compared with the wild‐type TSC1 plasmid transfection. A translation inhibitor cycloheximide and small interfering RNA of UPF1 (siRNA‐UPF1) increased mRNA or protein expression of TSC1 significantly in cells transfected with the mutant plasmids.ConclusionOur study demonstrated that the novel TSC1 frameshift mutation (TSC1 c.1550_1551del) trigger aberrant splicing and NMD simultaneously, causing decrease of hamartin, then, leading to tuberous sclerosis complex formation.
Fiber‐optic sensing scheme based on high‐order Stimulated Brillouin scattering in a fiber ring and frequency down‐conversion
Authors: Yun Jin , Cai Xun , Xiang Zhuowei , Chen Xinying , Fu Hongyan 
Published: July 2020

AbstractIn this article, a fiber‐optic sensing scheme based on Stimulated Brillouin scattering effect in a recirculating fiber ring and frequency down‐conversion is proposed and experimentally demonstrated. By employing the recirculating fiber ring structure, high‐order backscattering Stocks light has been generated. The Brillouin frequency shift will be affected by the environmental variations, such as, temperature changes, and by measuring the frequency shift of the beat signal of the pump light and the backscattering Stocks light, the measurands can be demodulated. Measuring beat frequency of higher‐order light enjoys higher sensitivity. To facilitate the measurement, frequency down‐conversion has been utilized. Temperature sensing has been demonstrated for verification in the experiment, and by detecting the frequency shift of down‐converted signal of the first‐order, second‐order, and third‐order Brillouin beat signal at ~0.5, ~1.0, and ~1.5 GHz, the sensitivities of ~1.11, ~2.41, and ~3.59 MHz/°C have been obtained, respectively.
An approach for circuit modeling of a multiband resonators based planar metamaterial absorber
Authors: Agarwal Mayank , Meshram Manoj Kumar 
Published: July 2020

AbstractIn this article, a metamaterial absorber structure is analyzed using the transmission line method (TLM) considering the normal incidence of the wave. The unit cell of the presented absorber structure is a composite geometry providing dual‐band absorption. Peak absorptivities of 95.02% and 99.84% are obtained at 4.215 GHz and 10.95 GHz, respectively. The experimentally validated simulated reflection response is used as a reference to validate the analytical response of the absorber structure. To obtain the equivalent circuit model, the frequency selective surface (FSS) forming the absorber top layer is considered as a combination of two simpler FSS. The individual absorbers formed by two such FSS are correctly modeled using TLM. The obtained equivalent circuits are then combined suitably by incorporating the involved coupling capacitances into the calculation. The analytical and simulated response of the presented absorber structure is found in good agreement. The presented decomposition approach for the development of a circuit model of the composite FSS is promising and it would pave the way in obtaining the good physical insight of the multiband metamaterial absorber structures.
Decomposition‐based approximation algorithms for the one‐warehouse multi‐retailer problem with concave batch order costs
Authors: Hu Weihong , Yu Zhuoting , Toriello Alejandro , Dessouky Maged M. 
Published: July 2020

AbstractWe study the one‐warehouse multi‐retailer problem under deterministic dynamic demand and concave batch order costs, where order batches have an identical capacity and the order cost function for each facility is concave within the batch. Under appropriate assumptions on holding cost structure, we obtain lower bounds via a decomposition that splits the two‐echelon problem into single‐facility subproblems, then propose approximation algorithms by judiciously recombining the subproblem solutions. For piecewise linear concave batch order costs with a constant number of slopes we obtain a constant‐factor approximation, while for general concave batch costs we propose an approximation within a logarithmic factor of optimality. We also extend some results to subadditive order and/or holding costs.
A second‐order space–time accurate scheme for nonlinear diffusion equation with general capacity term
Authors: Zheng Huan , Yuan Guangwei , Cui Xia 
Published: July 2020

AbstractA fully implicit finite difference (FIFD) scheme with second‐order space–time accuracy is studied for a nonlinear diffusion equation with general capacity term. A new reasoning procedure is introduced to overcome difficulties caused by the nonlinearity of the capacity term and the diffusion operator in the theoretical analysis. The existence of the FIFD solution is investigated at first which plays an important role in the analysis. It is established by choosing a new test function to bound the solution and its temporal and spatial difference quotients in suitable norms in the fixed point arguments, which is different from the traditional way. Based on these bounds, other fundamental properties of the scheme are rigorously analyzed consequently. It shows that the scheme is uniquely solvable, unconditionally stable, and convergent with second‐order space–time accuracy in L∞(L2) and L∞(H1) norms. The theoretical analysis adapts to both one‐ and multidimensional problems, and can be extended to schemes with first‐order time accuracy. Numerical tests are provided to verify the theoretical results and highlight the high accuracy of the second‐order space–time accurate scheme. The reasoning techniques can be extended to a broad family of discrete schemes for nonlinear problems with capacity terms.
Overweight and Obesity are Risk Factors of Severe Illness in Patients with COVID‐19
Authors: Wang Jian , Zhu Li , Liu Longgen , Zhao Xiang‐an , Zhang Zhaoping , Xue Leyang , Yan Xuebing , Huang Songping , Li Yang , Cheng Juan , Zhang Biao , Xu Tianmin , Li Chunyang , Ji Fang , Ming Fang , Zhao Yun , Shao Huaping , Sang Dawen , Zhao Haiyan , Guan Xinying , Chen Xiaobing , Chen Yuxin , Issa Rahma , Wei Jie , Huang Rui , Zhu Chuanwu , Wu Chao 
Published: July 2020

ObjectiveThis study aimed to observe the clinical characteristics of patients with coronavirus disease 2019 (COVID‐19) with overweight and obesity.MethodsConsecutive patients with COVID‐19 from 10 hospitals of Jiangsu province, China, were enrolled.ResultsA total of 297 patients with COVID‐19 were included, and 39.39% and 13.47% of patients had overweight and obesity, respectively. The proportions of bilateral pneumonia (92.50% vs. 73.57%, P = 0.033) and type 2 diabetes (17.50% vs. 3.57%, P = 0.006) were higher in patients with obesity than lean patients. The proportions of severe illness in patients with overweight (12.82% vs. 2.86%, P = 0.006) and obesity (25.00% vs. 2.86%, P < 0.001) were significantly higher than lean patients. More patients with obesity developed respiratory failure (20.00% vs. 2.86%, P < 0.001) and acute respiratory distress syndrome (5.00% vs. 0%, P = 0.024) than lean patients. The median days of hospitalization were longer in patients with obesity than lean patients (17.00 days vs. 14.00 days, P = 0.029). Overweight (OR, 4.222; 95% CI: 1.322‐13.476; P = 0.015) and obesity (OR, 9.216; 95% CI: 2.581‐32.903; P = 0.001) were independent risk factors of severe illness. Obesity (HR, 6.607; 95% CI: 1.955‐22.329; P = 0.002) was an independent risk factor of respiratory failure.ConclusionsOverweight and obesity were independent risk factors of severe illness in COVID‐19 patients. More attention should be paid to these patients.
Single‐center pediatric experience with venetoclax and azacitidine as treatment for myelodysplastic syndrome and acute myeloid leukemia
Authors: Winters Amanda C. , Maloney Kelly W. , Treece Amy L. , Gore Lia , Franklin Anna K. 
Published: July 2020

AbstractBackgroundThe BCL‐2 inhibitor venetoclax (ven) has revolutionized the treatment of acute myeloid leukemia (AML) in elderly adults, leading to its recent FDA approval for this population in combination regimens. Although extensive data exist for adult myeloid malignancies, there are limited preclinical data on the efficacy and/or dosing of venetoclax for pediatric myelodysplastic syndrome (MDS) or AML and thus little information to guide use of this regimen in pediatric patients. Our objective was to describe our single‐center experience with venetoclax in combination with the hypomethylating agent 5‐azacitidine (aza) in pediatric patients with MDS or AML.ProcedureWe conducted a retrospective chart review of patients treated at Children's Hospital Colorado prior to March 2020 with at least one cycle of ven/aza. Patients were included if between the ages of 1 and 25 years with a diagnosis of high‐grade MDS or AML. AML patients had relapsed or primary refractory disease or were deemed poor candidates for standard chemotherapy.ResultsEight patients received ven/aza, two for high‐grade MDS and six for AML. Ven/aza was well tolerated by all patients. The most common adverse events seen with this regimen were gastrointestinal and hematologic. Morphologic responses were seen in six patients including both patients with MDS. All four AML responders became minimal residual disease negative. Three responders have thus far proceeded to allogeneic hematopoietic stem cell transplant following ven/aza.ConclusionsOur clinical experience suggests that ven/aza is a safe and promising regimen that should be further explored with late‐phase clinical trials.
Fluoride anion sensing mechanism of 2‐(quinolin‐2‐yl)‐3‐hydroxy‐4H‐chromen‐4‐one chemosensor based on inhibition of excited state intramolecular ultrafast proton transfer
Authors: Li Junyu , Feng Shiquan , Xu Liancai , Feng Xuechao 
Published: July 2020

AbstractThe excited state hydrogen bonding interactions and intramolecular proton transfer (ESIPT) process for 2‐(quinolin‐2‐yl)‐3‐hydroxy‐4H‐chromen‐4‐one (Qu3HC) system has been theoretically studied via density functional theory (DFT) and time‐dependent DFT (TDDFT) methods. We confirmed that the reversible tuning of intramolecular hydrogen bonding direction is impossible for Qu3HC system. Then, we have studied the S0‐state and S1‐state hydrogen bonding dynamical behaviors of Qu3HC structure and confirmed that the strengthening of intramolecular hydrogen bond in the S1 state could facilitate ESIPT reaction. Given photo‐induced excitation, we find that the charge redistribution around hydroxyl moiety plays important roles in providing driving force for ESIPT. Our constructed potential energy curves further verify that the ESIPT process of Qu3HC should be ultrafast due to low potential barrier. With the addition of fluoride anions, the exothermal deprotonation process occurs spontaneously along with the intermolecular hydrogen bond O–H···F, which reveals the uniqueness of detecting fluoride anion using Qu3HC molecule. As a whole, the fluoride anion inhibits the initial ESIPT process of Qu3HC, which results in different fluorescence behaviors.
Low Velocity of Detonation Explosive Welding (LVEW) Process for Metal Joining
Authors: Bahadur Sherpa Bir , Dinesh Kumar Pal , Upadhyay Abhishek , Kumar Sandeep , Agarwal Arun , Tyagi Sachin 
Published: July 2020

AbstractIn this research work, low velocity of detonation (VoD) explosive welding process (LVEW) is designed and developed. For this, a unique low VoD explosive mixture (LVE‐1) is prepared which consists of a 50/50 ratio of common salt and trimonite‐1. The velocity of detonation of the prepared explosive mixture was measured experimentally using a pin‐oscilloscopic technique and a high‐speed streak camera. The process introduced in this work is applied to copper/low carbon steel and aluminium/low carbon steel joints to assess its feasibility. The explosive weldability window was plotted and flyer plate velocity was selected to achieve good quality joining. The analysis of the joints was carried out using the micro‐hardness tester and optical microscope. Experiments were carried out for establishing good quality bonding and defect‐free bi‐metallic plates that can be widely used in aerospace, defence as well as in industrial applications.
The Electrolysis of Ammonium Dinitramide in Dimethyl Sulfoxide
Authors: Izato Yu‐ichiro , Matsushita Kazuki , Shiota Kento , Miyake Atsumi 
Published: July 2020

AbstractThis work investigated the electrolysis of ammonium dinitramide (ADN: NH4N(NO2)2) in dimethyl sulfoxide (DMSO). Various fundamental electrolysis properties of ADN were assessed based on an electrochemical study and the associated mechanisms were examined based on a quantum chemical approach. ADN exhibited three redox peaks at −0.69, −1.16 and −1.52 V, and two oxidation peaks at 0.34 and 0.50 V (vs Ag/AgCl) at a scan rate of 50 mV s−1 during cyclic voltammetry trials with a platinum electrode. Ultraviolet‐visible spectra of ADN in DMSO were also acquired to determine temporal changes under galvanostatic reduction conditions. These spectra showed that a continuous current in conjunction with an applied voltage of −1.5 V decomposed the ADN, but were unable to elucidate electrolysis products. Quantum chemistry calculations identified possible pathways for the electrolysis of ADN in DMSO, and indicated that reduced ADN rapidly decomposes to form NH3, N2O, NO2 and OH−. The associated Gibbs energy barrier was determined to be almost 0 kJ mol−1 when calculated at the CBS‐QB3//ωB97X‐D/6‐311++G(d,p)/SCRF=(SMD, solvent=dmso) level of theory. These results suggest that ADN can undergo electrolysis in a solvent for which the potential window is sufficiently wide given the application of the appropriate voltage.
Observational analysis and simulations of a severe hailstorm in northeastern Italy
Authors: Manzato Agostino , Riva Valentino , Tiesi Alessandro , Marcello Miglietta Mario 
Published: July 2020

AbstractHailstorms are relatively frequent in the Friuli Venezia Giulia region, northeastern Italy and, for that reason, a network of manual hailpads has been set up there since the late 1980s. On July 4, 2007, a record number of hailpads in the network were impacted by hail (115 out of about 360 total stations). To the best of the authors' knowledge, no other single hailstorm case‐study has information coming from such a large number of hailpads impacted by hail. These hailpads are analysed using automatic software, able to interpret each hail dent as an ellipse. From these data, the distribution of hailstone diameters, areal hailstone density on the pads and total kinetic energy flux are computed and analysed in the present study. A parallel analysis of radar maximum reflectivity and cloud‐to‐ground lightning shows that the evolution of the hailstorm can be divided into three different phases, the first being the most severe in terms of lightning and hail. Finally, numerical simulations performed with a non‐hydrostatic mesoscale model, implementing a prognostic module for the explicit simulation of hail (WRF‐HAILCAST), show that the simulation system provides useful information on the severity of the event in terms of maximum hailstone diameter and reflectivity shape.
Precision and accuracy of robot‐assisted technology with simplified express femoral workflow in measuring leg length and offset in total hip arthroplasty
Authors: Cozzi Lepri Andrea , Villano Marco , Innocenti Matteo , Porciatti Tommaso , Matassi Fabrizio , Civinini Roberto 
Published: July 2020

AbstractBackgroundSemi‐active robot‐assisted total hip arthroplasty (THA) has two options to measure the leg length discrepancy (LLD) and combined offset (CO), the ‘enhanced’ femoral workflow and the so‐called ‘express’ simplified workflow. The purpose of this study was to determine the precision and accuracy of intraoperative LLD and CO measurement with express workflow robotic THA.MethodsBetween February 2018 and December 2019, 30 patients underwent an express workflow robot‐assisted primary THA for intraoperative LLD and CO measurements. Postoperative radiographs were used for LLD and CO measurement. In order to examine the accuracy of the robotic system assessment, the absolute difference between the robotic assessments and radiographic evaluations was calculated.ResultsIntraoperative robotic measurements reported a mean error of 0.2–0.6 mm for each registration, with no significant difference between them (p = 0.311). The average absolute discrepancies between the robotic and radiographic assessments in the LLD and CO measurements were 1.3 ± 1.5 mm (p = 0.17) and 1.1 ± 0.9 mm (p = 0.11), respectively, while the Pearson's correlation coefficients were 0.69 and 0.71.ConclusionsAn external marker without a femoral array inserted into a screw positioned in the greater trochanter would be an easier and faster method to measure LLD and CO. Our study showed that the measured values of LLD and CO obtained by intraoperative express workflow robot‐assisted THA system were precise and accurate.
Nasolacrimal duct stenosis—Surgery with a novel robotic endoscope positioning system
Authors: Boehm Felix , Friedrich Daniel T. , Sommer Fabian , Scheithauer Marc‐Oliver , Greve Jens , Hoffmann Thomas K. , Schuler Patrick J. 
Published: July 2020

AbstractBackgroundDistal nasolacrimal duct stenosis is usually treated by head and neck surgeons with transnasal endoscopic dacryocystorhinostomy (DCR). The presented clinical study discusses advantages and drawbacks of a robot‐assisted endoscope positioning system, which allows for hands‐free visualization of the surgical field.Material and MethodsTwo patients were treated by surgical DCR. The endoscopic positioning system (Medineering®) features a mechatronic holding arm with four segments and seven degrees of freedom. It is driven by using a foot pedal.ResultsVisualization and instrumentation of the surgical field including the relevant anatomical landmarks were feasible. The endoscope position could be controlled with sufficient precision. The surgeon was able to maintain bimanual instrumentation.ConclusionThe endoscope positioning system allows for two‐handed surgery, which facilitates the essential steps of the surgical procedure. If the benefit of the system is sufficient for the use in clinical routine, it has to be evaluated in repeated applications.
In Vitro Primary‐Indirect Genotoxicity in Bronchial Epithelial Cells Promoted by Industrially Relevant Few‐Layer Graphene
Authors: Burgum Michael J. , Clift Martin J. D. , Evans Stephen J. , Hondow Nicole , Miller Mark , Lopez Sandra Bustamante , Williams Adam , Tarat Afshin , Jenkins Gareth J. , Doak Shareen H. 
Published: July 2020

AbstractFew‐layer graphene (FLG) has garnered much interest owing to applications in hydrogen storage and reinforced nanocomposites. Consequently, these engineered nanomaterials (ENMs) are in high demand, increasing occupational exposure. This investigation seeks to assess the inhalation hazard of industrially relevant FLG engineered with: (i) no surface functional groups (neutral), (ii) amine, and (iii) carboxyl group functionalization. A monoculture of human lung epithelial (16HBE14o‐) cells is exposed to each material for 24‐h, followed by cytotoxicity and genotoxicity evaluation using relative population doubling (RPD) and the cytokinesis‐blocked micronucleus (CBMN) assay, respectively. Neutral‐FLG induces the greatest (two‐fold) significant increase (p < 0.05) in micronuclei, whereas carboxyl‐FLG does not induce significant (p < 0.05) genotoxicity. These findings correlate to significant (p < 0.05) concentration‐dependent increases in interleukin (IL)‐8, depletion of intracellular glutathione (rGSH) and a depletion in mitochondrial ATP production. Uptake of FLG is evaluated by transmission electron microscopy, whereby FLG particles are observed within membrane‐bound vesicles in the form of large agglomerates (>1 µm diameter). The findings of the present study have demonstrated the capability of neutral‐FLG and amine‐FLG to induce genotoxicity in 16HBE14o‐ cells through primary indirect mechanisms, suggesting a possible role for carboxyl groups in scavenging radicals produced via oxidative stress.
Confined Thermolysis for Oriented N‐Doped Carbon Supported Pd toward Stable Catalytic and Energy Storage Applications
Authors: Huang Ke‐Xin , Hua Junhui , Chang Gang‐Gang , Li Zhaohuai , Tian Ge , Chen Min‐Jie , Li Jia‐Xin , Ke Shan‐Chao , Yang Xiao‐Yu , Chen Banglin 
Published: July 2020

AbstractCarbon‐based nanomaterials have been widely utilized in catalysis and energy‐related fields due to their fascinating properties. However, the controllable synthesis of porous carbon with refined morphology is still a formidable challenge due to inevitable aggregation/fusion of resulted carbon particles during the high‐temperature synthetic process. Herein, a hierarchically oriented carbon‐structured (fiber‐like) composite is fabricated by simultaneously taking advantage of a confined pyrolysis strategy and disparate bond environments within metal–organic frameworks (MOFs). In the resultant composite, the oriented carbon provides a fast mass (molecule/ion/electron) transfer efficiency; the doping‐N atoms can anchor or act as active sites; the mesoporous SiO2 (mSiO2) shell not only effectively prevents the derived carbon or active metal nanoparticles (NPs) from aggregation or leaching, but also acts as a “polysulfide reservoir” in the Li–S batteries to suppress the “shuttle” effect. Benefiting from these advantages, the synthesized composite Pd@NDHPC@mSiO2 (NDHPC means N‐doped hierarchically porous carbon) exhibits extremely high catalytic activity and stability toward the one‐pot Knoevenagel condensation–hydrogenation reaction. Furthermore, the oriented NDHPC@mSiO2 manifests a boosted capacity and cycling stability in Li–S batteries compared to the counterpart that directly pyrolyzes without silica protection. This report provides an effective strategy of fabricating hierarchically oriented carbon composites for catalysis and energy storage applications.