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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane nancy rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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Linguistic Single-Valued Neutrosophic Power Aggregation Operators and Their Applications to Group Decision-Making Problems

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IEEE/CAA Journal of Automatica Sinica 2020年第2期7卷 546-558页

作者： Harish Garg nancy School of Mathematics Thapar Institute of Engineering & Technology Deemed University

Linguistic single-valued neutrosophic set(LSVNS)is a more reliable tool,which is designed to handle the uncertainties of the situations involving the qualitative *** the present manuscript,we introduce some power aggregation operators(AOs)for the LSVNSs,whose purpose is to diminish the influence of inevitable arguments about the decision-making *** it,first we develop some averaging power operators,namely,linguistic single-valued neutrosophic(LSVN)power averaging,weighted average,ordered weighted average,and hybrid averaging AOs along with their desirable ***,we extend it to the geometric power AOs for *** on the proposed work;an approach to solve the group decision-making problems is given along with the numerical ***,a comparative study and the validity tests are present to discuss the reliability of the proposed operators.

关键词： Aggregation operator(AO) group decision making linguistic neutrosophic numbers neutrosophic set power operators

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Concatenated deleting machines and their characteristics

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Communications in Theoretical Physics 2023年第3期75卷 48-55页

作者： A nancy S Balakrishnan Department of Physics School of Advanced SciencesVellore Institute of TechnologyVellore 632014Tamil NaduIndia

In this work,we study the performance of one shot and concatenated deleting machines(DMs).We show that the output state of one shot DMs are mixed inseparable,and do not violate Bell's inequality but can be used as a teleportation channel for all values of the input state *** the other hand,we observe in the concatenation of different DMs that the output states are mixed inseparable and do not violate Bell's inequality,and cannot be used as a teleportation ***,some important attributes such as inseparability,violation of Bell's inequality,and teleportation fidelity of the DMs remain unchanged under the order of *** this context of a teleportation channel,one shot DMs are useful when compared to concatenated DMs.

关键词： Pati-Braunstein deleting machine concatenated deleting machine teleportation fidelity Bell's inequality

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Enhancing Network Intrusion Detection Model Using Machine Learning Algorithms

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Computers, Materials & Continua 2021年第4期67卷 979-990页

作者： nancy Awadallah Awad Department of Computer and Information Systems Sadat Academy for Management SciencesCairo11742Egypt

After the digital revolution,large quantities of data have been generated with time through various *** networks have made the process of data analysis very difficult by detecting attacks using suitable *** Intrusion Detection Systems(IDSs)secure resources against threats,they still face challenges in improving detection accuracy,reducing false alarm rates,and detecting the unknown *** paper presents a framework to integrate data mining classification algorithms and association rules to implement network intrusion *** experiments have been performed and evaluated to assess various machine learning classifiers based on the KDD99 intrusion *** study focuses on several data mining algorithms such as;naïve Bayes,decision trees,support vector machines,decision tables,k-nearest neighbor algorithms,and artificial neural ***,this paper is concerned with the association process in creating attack rules to identify those in the network audit data,by utilizing a KDD99 dataset anomaly *** focus is on false negative and false positive performance metrics to enhance the detection rate of the intrusion detection *** implemented experiments compare the results of each algorithm and demonstrate that the decision tree is the most powerful algorithm as it has the highest accuracy(0.992)and the lowest false positive rate(0.009).

关键词： Intrusion detection association rule data mining algorithms KDD99

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Analyzing Customer Reviews on Social Media via Applying Association Rule

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Computers, Materials & Continua 2021年第8期68卷 1519-1530页

作者： nancy Awadallah Awad Amena Mahmoud Department of Computer and Information Systems Sadat Academy for Management SciencesCairo11742Egypt Faculty of computers and Information Department of Computer ScienceKafr el Sheikh UniversityKafr El Sheikh33511Egypt

The rapid growth of the use of social media opens up new challenges and opportunities to analyze various aspects and patterns in ***-text mining,several techniques are available such as information clustering,extraction,summarization,*** this study,a text mining framework was presented which consists of 4 phases retrieving,processing,indexing,and mine association rule *** is applied by using the association rule mining technique to check the associated term with the Huawei P30 Pro *** reviews are extracted from many websites and Facebook groups,such as ***,*** and *** technology,where customers from all over the world placed their notes on cell *** this analysis,a total of 192 reviews of Huawei P30 Pro were collected to evaluate them by text mining *** findings demonstrate that Huawei P30 Pro,has strong points such as the best safety,high-quality camera,battery that lasts more than 24 hours,and the processor is very *** paper aims to prove that text mining decreases human efforts by recognizing significant *** will lead to improving the awareness of customers to choose their products and at the same time sales managers also get to know what their products were accepted by customers suspended.

关键词： Machine learning text mining social media big data association rule document clustering

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Improving Reconstructed Image Quality via Hybrid Compression Techniques

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Computers, Materials & Continua 2021年第3期66卷 3151-3160页

作者： nancy Awadallah Awad Amena Mahmoud Department of Computer and Information Systems Sadat Academy for Management SciencesCairo11742Egypt Department of Computer Science Kafr el Sheikh University33511Egypt

Data compression is one of the core fields of study for applications of image and video *** raw data to be transmitted consumes large bandwidth and requires huge storage space as a result,it is desirable to represent the information in the data with considerably fewer bits by the mean of data compression techniques,the data must be reconstituted very similarly to the initial *** this paper,a hybrid compression based on Discrete Cosine Transform(DCT),DiscreteWavelet Transform(DWT)is used to enhance the quality of the reconstructed *** techniques are followed by entropy encoding such as Huffman coding to give additional *** coding is optimal prefix code because of its implementation is more simple,faster,and easier than other *** needs less execution time and it is the shortest average length and the measurements for analysis are based upon Compression Ratio,Mean Square Error(MSE),and Peak Signal to Noise Ratio(PSNR).We applied a hybrid algorithm on(DWT–DCT 2×2,4×4,8×8,16×16,32×32)***,we show that by using a hybrid(DWT–DCT)compression technique,the PSNR is reconstructed for the image by using the proposed hybrid algorithm(DWT–DCT 8×8 block)is quite high than DCT.

关键词： Image compression discrete cosine transform PSNR discrete wavelet transform hybrid algorithm

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EBSD Investigation on Effect of Cooling Rate on Microstructure and Transformation Textures of High Strength Hot-rolled Steel Plates

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Journal of Iron and Steel Research International 2016年第3期23卷 261-269页

作者： nancy M.LOPEZ GRANADOS Armando SALINAS RODRIGUEZ Department of Metallurgical Engineering and Materials Science Center of Research and Advanced StudiesCINVESTAV-Unidad Saltillo

The effect of cooling rate on the microstructure and transformation textures of high strength hot-rolled steels was *** treated samples subjected to different cooling conditions were characterized by optical and scanning electron microscopes using orientation imaging microscopy（OIM）.The experimental results demonstrate that there is a significant effect of cooling rate on microstructures and textures resulting from phase *** cooling rates lead to the appearance of the cube（001）[010],rotated cube（001）[110]/（001）[110],Goss（110）[001]and rotated Goss（110）[110]*** contrast,textures developed at rapid cooling rates are preferably of Cu（112）[111],Br（110）[112],transformed Cu（113）[110]and transformed Br（332）[113]/（112）[131].These texture changes are attributed to the selective character of the phase *** OIM technique was used to have a better understanding of the formation of phases and their relationship between microstructure and processing *** volume fraction of micro-constituents resulting from phase transformation such as bainite,martensite and different types of ferrite,can be measured satisfactorily by this technique correlating image quality of EBSD patterns to specific phases.

关键词： orientation imaging microscopy texture phase transformation microstructure steel

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Updates in endocrine therapy for metastatic breast cancer

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Cancer Biology & Medicine 2022年第2期19卷 202-212页

作者： Poorni M.Manohar nancy E.Davidson University of Washington/Seattle Cancer Care Alliance Seattle 98109WAUSA Fred Hutchinson Cancer Research Center Seattle 98109WAUSA

Endocrine therapy(ET)remains the mainstay of treatment for steroid hormone receptor-positive,human epidermal growth factor 2(HER2)-negative metastatic breast cancer(MBC).Tumor resistance to hormone therapy has led to the development of novel endocrine drug combinations,transforming the landscape of MBC *** options for ET are expanding,with promising agents in the *** MBC remains incurable,many patients can enjoy years of survival with good quality of life by cycling through the many available *** the plethora of available agents and rapid approvals,clinicians look to evidencebased guidelines to assist in treatment selection to maximize patient *** this review,we provide a contemporary review of the advances in ET and a suggested algorithm to guide clinicians in daily management of patients with hormone receptor-positive,HER2-negative *** will discuss landmark trials and highlight their impact in reshaping treatment ***,we will provide a glimpse into advances on the horizon and the promise they bring to improve outcomes in patients with advanced breast cancer.

关键词： Endocrine therapy metastatic breast cancer

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Life cycle cost and economic assessment of biochar-based bioenergy production and biochar land application in Northwestern Ontario, Canada

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Forest Ecosystems 2017年第1期4卷 12-21页

作者： Krish Homagain Chander Shahi nancy Luckai Mahadev Sharma Faculty of Natural Resources Management Lakehead University 955 Oliver Rd. Thunder Bay ON P7B 5E1 Canada Ontario Forest Research Institute 1235 Queen Street E Sault Ste. Marie ON P6A 2E5 Canada.

Background： Replacement of fossil fuel based energy with biochar-based bioenergy production can help reduce greenhouse gas emissions while mitigating the adverse impacts of climate change and global warming. However, the production of biochar-based bioenergy depends on a sustainable supply of biomass. Although, Northwestern Ontario has a rich and sustainable supply of woody biomass, a comprehensive life cycle cost and economic assessment of biochar-based bioenergy production technology has not been done so far in the region. Methods： In this paper, we conducted a thorough life cycle cost assessment （LCCA） of biochar-based bioenergy production and its land application under four different scenarios： 1） biochar production with low feedstock availability; 2） biochar production with high feedstock availability; 3） biochar production with low feedstock availability and its land application; and 4） biochar production with high feedstock availability and its land applicationusing SimaPro, EIOLCA software and spreadsheet modeling. Based on the LCCA results, we further conducted an economic assessment for the break-even and viability of this technology over the project period. Results： It was found that the economic viability of biochar-based bioenergy production system within the life cycle analysis system boundary based on study assumptions is directly dependent on costs of pyrolysis, feedstock processing （drying, grinding and pelletization） and collection on site and the value of total carbon offset provided by the system. Sensitivity analysis of transportation distance and different values of C offset showed that the system is profitable in case of high biomass availability within 200 km and when the cost of carbon sequestration exceeds CAD S60 per tonne of equivalent carbon （CO2e）. Conclusions： Biochar-based bioenergy system is economically viable when life cycle costs and environmental assumptions are accounted for. This study provides a medium scale slow-pyrolysis pla

关键词： LCA LCCA SimaPro Biochar Biomass Pyrolysis Bioenergy Wood Pellets

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Explosion of autoimmune diseases and the mosaic of old and novel factors

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Cellular & Molecular Immunology 2011年第3期8卷 189-192页

作者： nancy Agmon-Levin Zhexiong Lian Yehuda Shoenfeld The Zabludowicz Center for Autoimmune Diseases and Department of Medicine B Sheba Medical CenterTel-HashomerIsrael Institute of Immunology and School of Life Sciences University of Science and Technology of ChinaHefeiChina Incumbent of the Laura Schwarz-Kip Chair for Research of Autoimmune Diseases Tel-Aviv University

In recent decades,an enormous effort has been made to elucidate the pathogenesis of autoimmune and autoinflammatory *** is a multifactorial process in which genetic,immunological,environmental and hormonal factors play in concert,together representing what was termed years ago the‘mosaic of autoimmunity’.To date,more than 80 systemic and organ-specific autoimmune diseases have been defined,and their cumulative burden is substantial,both medically and ***,the burden of autoimmune and autoinflammatory diseases is rising,making these diseases a ubiquitous global phenomenon that is predicted to further increase in the coming *** this issue of the journal,additional aspects of autoimmunity are *** dysregulation and loss of self-tolerance are the cornerstones of autoimmunity.

关键词： ASIA autoimmunity vaccines silicone Golf war syndrome

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