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PICOTEES:a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts

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Journal of Genetics and Genomics 2024年第2期51卷 243-251页

作者： Xinran Dong Yulan Lu Lanting Guo Chuan Li Qi Ni Bingbing Wu Huijun Wang Lin Yang Songyang Wu Qi Sun hao Zheng wenhao zhou Shuang Wang Center for Molecular Medicine Children's Hospital of Fudan UniversityShanghai 201102China Key Laboratory of Birth Defects Children's Hospital of Fudan UniversityShanghai 201102China Department of Bioinformatics Hangzhou Nuowei Information Technology Co.LtdHangzhouZhejiang 310000China The Third Research Institute of the Ministry of Public Security Shanghai 200031China Xiamen Campus of Children's Hospital of Fudan University XiamenFujian 361006China Institutes for Systems Genetics West China HospitalChengduSichuan 610041China Shanghai Putuo People's Hospital Tongji UniversityShanghai 200060China

The growth in biomedical data resources has raised potential privacy concerns and risks of genetic information leakage. For instance, exome sequencing aids clinical decisions by comparing data through web services, but it requires significant trust between users and providers. To alleviate privacy concerns, the most commonly used strategy is to anonymize sensitive data. Unfortunately, studies have shown that anonymization is insufficient to protect against reidentification attacks. Recently, privacy-preserving technologies have been applied to preserve application utility while protecting the privacy of biomedical data. We present the PICOTEES framework, a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants (https://***:3000/). PICOTEES enables privacy-preserving queries of the phenotype spectrum for a single variant by utilizing trusted execution environment technology, which can protect the privacy of the user's query information, backend models, and data, as well as the final results. We demonstrate the utility and performance of PICOTEES by exploring a bioinformatics dataset. The dataset is from a cohort containing 20,909 genetic testing patients with 3,152,508 variants from the Children's Hospital of Fudan University in China, dominated by the Chinese Han population (>99.9%). Our query results yield a large number of unreported diagnostic variants and previously reported pathogenicity.

关键词： Privacy protecti on Rare diseases in children Genetic testing Web system Trusted executi on envir onment

Effect of CO_(2) Opposing Multiple Jets on Thermoacoustic Instability and NO_(x) Emissions in a Lean-Premixed Model Combustor

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Journal of Thermal Science 2024年第1期33卷 207-221页

作者： zhou hao HU Liubin Institute for Thermal Power Engineering State Key Laboratory of Clean Energy UtilizationZhejiang UniversityHangzhou 310027China

This paper experimentally studied the effect of CO_(2) opposing multiple jets on the thermoacoustic instability and NO_(x) emissions in a lean-premixed model combustor.The feasibility was verified from three variables:the CO_(2) jet flow rate,hole numbers,and hole diameters of the nozzles.Results indicate that the control effect of thermoacoustic instability and NO_x emissions show a reverse trend with the increase of open area ratio on the whole,and the optimal jet flow rate range is 1-4 L/min with CO_(2) opposing multiple jets.In this flow rate range,the amplitude and frequency of the dynamic pressure and heat release signals CH~* basically decrease as the CO_(2) flow rate increases,which avoids high-frequency and high-amplitude thermoacoustic instability.The amplitude-damped ratio of dynamic pressure and CH*can reach as high as 98.75% and 93.64% with an optimal open area ratio of 3.72%.NO_(x) emissions also decrease as the jet flow rate increases,and the maximum suppression ratio can reach 68.14%.Besides,the flame shape changes from a steep inverted "V" to a more flat "M",and the flame length will become shorter with CO_(2) opposing multiple jets.This research achieved the synchronous control of thermoacoustic instability and NO_(x) emissions,which could be a design reference for constructing a safer and cleaner combustor.

关键词： thermoacoustic instability lean-premixed model combustor CO_(2)opposing multiple jets open area ratio NO_(x)emissions

Enhanced red luminescence of Ca_(3)Si_(2−x)M_(x)O_(7):Eu^(3+)(M=Al,P)phosphors via partial substitution of Si^(4+) for applications in white light-emitting diodes

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Rare Metals 2024年第2期43卷 736-748页

作者： Yu-hao Ma Xi Gao wen-Tao Zhang Zhen-Rui Yang zhou Zhao Chen Qu College of Materials and Chemistry and Chemical Engineering Chengdu University of TechnologyChengdu610059China State Key Laboratory of Geohazard Prevention and Geoenvironment Protection Chengdu University of TechnologyChengdu610059China International Advanced Energy Science Research and Education Center Graduate School of Energy ScienceKyoto UniversityYoshida-HonmachiKyoto606-8501Japan

A red-emitting phosphor Ca_(2.91)Si_(2)O_(7):0.09Eu^(3+) with partial Al^(3+)/P^(5+) substitution on Si^(4+) was synthesized via a simple solid-state method,and the effects of the introduction of the M^(3+/5+)(M=Al,P)ions on the crystal structure and photoluminescence performance of Ca_(2.91)Si_(2−x)M_(x)O_(7):0.09Eu^(3+) phosphors were investigated.The X-ray diffraction(XRD),energy-dispersive X-ray spectroscopy(EDS),and X-ray photoelectron spectroscopy(XPS)results revealed that the structure of Ca_(3)Si_(2)O_(7) remained the same after the introduction of Al^(3+) and P^(5+) ions.The characteristic emission of Eu^(3+)-doped Ca_(3)Si_(2−x)M_(x)O_(7) phosphors exhibited two main peaks at 617 nm(red)and 593 nm(orange)under excitation at 394 nm,which originated from the^(5)D_(0)→^(7)F_(2)and^(5)D_(0)→^(7)F_(1) electron transitions of Eu^(3+) ions.After the partial substitution of Al^(3+) and P^(5+),the red emission intensities of the Ca_(2.91)Si_(2)O_(7):0.09Eu^(3+) phosphors were significantly enhanced by 1.88-and 1.42-fold,respectively,which is attributed to the crystal-field effect around Eu^(3+).Meanwhile,the luminescence intensities of the Ca_(2.91)Si_(1.96)Al_(0.04)O_(7):0.09Eu^(3+) and Ca_(2.91)Si_(1.94)P_(0.06)O_(7):0.09Eu^(3+) phosphors at 210℃ were 79.36%and 77.53%of those at 30°C,respectively,indicating their excellent thermal stability.Moreover,the as-prepared Ca_(2.91)Si_(1.96)Al_(0.04)O_(7):0.09Eu^(3+)and Ca_(2.91)Si_(1.94)P_(0.06)O_(7):0.09Eu^(3+) red-emitting phosphors were combined with a near-ultraviolet chip of 395 nm to fabricate red-light-emitting diode(LED)and white(w)-LED devices with excellent chromaticity features.In summary,Al^(3+)/P^(5+)-substituted Ca_(2.91)Si_(2)O_(7):0.09Eu^(3+) can serve as red-emitting phosphors for applications in w-LEDs.

关键词： Ca_(3)Si_(2)O_(7) Red-emitting phosphor Structure substitution Luminescence enhancement Crystal-field effect White light-emitting diode

Enhancing SAEAs with unevaluated solutions:a case study of relation model for expensive optimization

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Science China(Information Sciences) 2024年第2期67卷 41-58页

作者： hao hao Xiaoqun ZHANG Aimin zhou Institute of Natural Sciences Shanghai Jiao Tong University Shanghai Frontiers Science Center of Molecule Intelligent Syntheses School of Computer Science and Technology East China Normal University

Surrogate-assisted evolutionary algorithms(SAEAs) hold significant importance in resolving expensive optimization problems. Extensive efforts have been devoted to improving the efficiency of SAEAs through the development of proficient model-assisted solution selection methods, which, however, first requires generating high-quality solutions. The fundamental paradigm of evaluating a limited number of solutions in each generation within SAEAs reduces the variance of adjacent populations, thereby affecting the quality of offspring solutions. This is a frequently encountered issue yet receives little attention. To address the issue, this paper presents a framework using unevaluated solutions to enhance the efficiency of SAEAs.The surrogate model is employed to identify high-quality solutions for the direct generation of new solutions without evaluation. To ensure dependable selection, we have introduced two tailored relation models to select the optimal solution and the unevaluated population. A comprehensive experimental analysis is performed on two test suites, which showcases the superiority of the relation model over regression and classification models in the solution selection phase. Furthermore, the surrogate-selected unevaluated solutions with high potential have been shown to enhance the efficiency of the algorithm significantly.

关键词： expensive optimization unevaluated solutions relation model surrogate-assisted evolutionary algorithm

A new interacting capillary bundle model on the multiphase flow in micropores of tight rocks

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Petroleum Science 2024年第2期21卷 1099-1112页

作者： wen-Quan Deng Tian-Bo Liang wen-Zhong Wang hao Liu Jun-Lin Wu Fu-Jian zhou National Key Laboratory of Petroleum Resources and Engineering China University of Petroleum(Beijing)Beijing102249China

Surfactants are widely used in the fracturing fluid to enhance the imbibition and thus the oil recovery rate. However, current numerical models cannot capture the physics behind capillary imbibition during the wettability alteration by surfactants. Although the interacting capillary bundle(ICB) model shows potential in characterizing imbibition rates in different pores during wettability alteration, the existing ICB models neglect the influence of wettability and viscosity ratio on the imbibition behavior, making it difficult to accurately describe the oil-water imbibition behavior within the porous media. In this work,a new ICB mathematical model is established by introducing pressure balance without assuming the position of the leading front to comprehensively describe the imbibition behavior in a porous medium under different conditions, including gas-liquid spontaneous imbibition and oil-water imbibition.When the pore size distribution of a tight rock is known, this new model can predict the changes of water saturation during the displacement process in the tight rock, and also determine the imbibition rate in pores of different sizes. The water saturation profiles obtained from the new model are validated against the waterflooding simulation results from the CMG, while the imbibition rates calculated by the model are validated against the experimental observations of gas-liquid spontaneous imbibition. The good match above indicates the newly proposed model can show the water saturation profile at a macroscopic scale while capture the underlying physics of the multiphase flow in a porous medium at a microscopic scale. Simulation results obtained from this model indicate that both wettability and viscosity ratio can affect the sequence of fluid imbibition into pores of different sizes during the multiphase flow, where less-viscous wetting fluid is preferentially imbibed into larger pores while more-viscous wetting fluid tends to be imbibed into smaller pores. Furthermore, this model provides an avenue to calcu

关键词： Imbibition Multiphase flow Tight rock Interacting capillary bundle model Wettability

Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations:a single-center single-arm retrospective study

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World Journal of Pediatrics 2024年第5期20卷 517-524页

作者： Ying-Yan Wang Yun-Qing zhou Li-Juan Luo Cui-Jin Wang Nan Shen hao Li Ji-wen Wang Department of Neurology Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Department of Infectious Diseases Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Clinical Research Ward Clinical Research CenterShanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina

Background This retrospective study assessed the efficacy and safety of ketogenic diet therapies in children with epilepsy caused by SLC2A1 genetic mutations and glucose transporter type 1 deficiency syndrome.Methods Pediatric patients with epilepsy symptoms admitted to our medical center between January 2017 and October 2021 were included if they presented with an SLC2A1 genetic mutation on whole-exome sequencing.We analyzed the patients’convulsions and treatment with antiepileptic drugs.The patients were followed up at different time periods after ketogenic diet therapies.Results Six patients with SLC2A1 mutations were included in this study.The patients had seizures of different types and frequencies,and they took antiepileptic drugs to relieve their symptoms.They were then treated with a ketogenic diet for at least four months.We analyzed epilepsy control rates at 1,2,3,6,and 12 months after ketogenic diet treatment.All patients were seizure-free within a month of receiving the diet therapy.All patients were followed up for six months,three were followed up for 12 months after the treatment,and there was no recurrence of epilepsy during this period.After antiepileptic drug withdrawal,none of the patients experienced seizure relapse when receiving ketogenic diet treatment alone.No severe adverse events occurred during the therapy.Conclusions Ketogenic diet therapy is very effective and safe for the treatment of epilepsy caused by SLC2A1 mutations.Therefore,patients with glucose transporter type 1 deficiency syndrome caused by SLC2A1 mutations should begin ketogenic diet treatment as soon as possible.

关键词： Epilepsy Glucose transporter type 1 Ketogenic diet SLC2A1

Enhanced removal of antibiotic resistance genes during chicken manure composting after combined inoculation of Bacillus subtilis with biochar

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Journal of Environmental Sciences 2024年第1期135卷 274-284页

作者： Zewen Wu Luan Zhang hao Lin Shungui zhou Fujian Provincial Key Laboratory of Soil Environmental Health and Regulation College of Resources and EnvironmentFujian Agriculture and Forestry UniversityFuzhou 350002China School of Environmental Science and Engineering Hubei Key Laboratory of Mine Environmental Pollution Control and RemediationHubei Polytechnic UniversityHuangshi 435003China Fujian Provincial Key Laboratory of Eco-Industrial Green Technology Wuyi UniversityWuyishan 354300China

This study explored the combined effects of Bacillus subtilis inoculation with biochar on the evolution of bacterial communities,antibiotic resistance genes(ARGs),and mobile genetic elements(MGEs)during the composting of chicken manure.The results showed that B.subtilis inoculation combined with biochar increased bacterial abundance and diversity as well as prolonged the compost thermophilic period.Promoted organic matter biodegradation and facilitated the organic waste compost humification process,reduced the proliferation of ARGs by altering the bacterial composition.Firmicutes and Actinobacteriota were the main resistant bacteria related to ARGs and MGEs.The decrease in ARGs and MGEs was associated with the reduction in the abundance of related host bacteria.Compost inoculation with B.subtilis and the addition of biochar could promote nutrient transformation,reduce the increase in ARGs and MGEs,and increase the abundance of beneficial soil taxa.

关键词： Antibiotic resistance gene Bacillus subtilis Bacterial community Biochar Composting

Investigation on UV-curing Reprocessable Thermosets Bearing Hindered Urea Bonds and Their Composites with Modified Zinc Oxide Nanoparticles

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Chinese Journal of Polymer Science 2024年第6期42卷 751-765页

作者： Jun-hao zhou Li-Ming Tang Key Laboratory of Advanced Materials of Ministry of Education of China Department of Chemical EngineeringTsinghua UniversityBeijing100084China

In this study,a series of hindered urea bond(HUB)containing polyurethane-urea methacrylate prepolymers and a none HUB containing polyurethane methacrylate prepolymer were prepared using isobornyl methacrylate as the reactive diluent via one-pot procedure.The prepolymers were characterized fully by various techniques.Then,their thermosets were fabricated via UV curing in presence of a photo initiator,and their mechanical property and thermal behavior were investigated and compared.Different from the none HUB containing thermoset,the HUB containing thermosets(defined as PUT)could be recycled and reprocessed by hot press under relatively mild conditions with high recovery ratio of mechanical property.Furthermore,zinc oxide(ZnO)nanoparticles were modified with 3-(trimethoxysilyl)propyl methacrylate and the modified ZnO(defined as ZnO-TPM)was dispersed and polymerized into PUT matrix to prepare their nanocomposites.The influence of ZnO-TPM on the mechanical performance of the composites was evaluated,which indicated that the Young’s modulus and tensile strength increased gradually to the maximum values at ZnO-TPM content of 1 wt%and then decreased.The composites also displayed good reprocessability with improved recovery ratio compared to the pure PUT sample.In addition,the composite materials exhibited strong UV absorption capacity,implying their potential application in the circumstance where UV-shielding was required.

关键词： Polyurethane-urea methacrylate Hindered urea bond ZnO nanoparticles Reprocessing UV curing

Patient satisfaction and follow-up adherence to glaucoma case management clinic in China

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International Journal of Ophthalmology(English edition) 2024年第1期17卷 73-81页

作者： hao Lin Hu-Jie Lu wen-Zhe zhou Shu-Shu Zuo Yan-Yan Chen Shao-Dan Zhang National Clinical Research Center for Ocular Diseases Eye HospitalWenzhou Medical UniversityWenzhou 325027Zhejiang ProvinceChina School of Ophthalmology and Optometry Biomedical EngineeringWenzhou Medical UniversityWenzhou 325027Zhejiang ProvinceChina

AIM:To assess glaucoma patient satisfaction and follow-up adherence in case management and identify associated predictors to improve healthcare quality and patient outcomes.METHODS:In this cross-sectional study,a total of 119 patients completed a Patient Satisfaction Questionnaire-18 and a sociodemographic questionnaire.Clinical data was obtained from the case management system.Follow-up adherence was defined as completing each follow-up within±30d of the scheduled time set by ophthalmologists during the study period.RESULTS:Average satisfaction scored 78.65±7,with an average of 4.39±0.58 across the seven dimensions.Age negatively correlated with satisfaction(P=0.008),whilst patients with follow-up duration of 2 or more years reported higher satisfaction(P=0.045).Multivariate logistics regression analysis revealed that longer follow-up durations were associated with lower follow-up adherence(OR=0.97,95%CI,0.95-1.00,P=0.044).Additionally,patients with suspected glaucoma(OR=2.72,95%CI,1.03-7.20,P=0.044)and those with an annual income over 100000 Chinese yuan demonstrated higher adherence(OR=5.57,95%CI,1.00-30.89,P=0.049).CONCLUSION:The case management model proves effective for glaucoma patients,with positive adherence rates.The implementation of this model can be optimized in the future based on the identified factors and extended to glaucoma patients in more hospitals.

关键词： glaucoma patient satisfaction follow-up adherence case management