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Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome

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Cancer Communications 2021年第3期41卷 218-228页

作者： Rosario Ferrer-Avargues Maria Isabel castillejo Estela Damaso Virginia Diez-Obrero Noemi Garrigos Tatiana Molina Alan Codoner-Alejos Angel Segura Ana Beatriz Sanchez-Heras adela castillejo Jose Luis Soto Foundation for the Promotion of Health and Biomedical Research of Valencia Region(FISABIO) FISABIO-Elche Health DepartmentElche 032303Spain Molecular Genetics Unit.Elche University Hospital Elche 032303Spain Department of Molecular Biopathology Immunological Center of AlicanteSan Juan-Alicante 03550Spain Medical Oncology Department Cancer Genetic Counseling Unit.La Fe University HospitalValencia 46026Spain Medical Oncology Department Cancer Genetic Counseling Unit.Elche University HospitalElche 03203Spain

Background:Lynch syndrome(LS)is a hereditary condition characterized by a high risk of colorectal cancer,endometrial cancer,and other neoplasia associated with germline alterations in DNA mismatch repair *** classical genetic diagnostic strategy for LS consists of the Sanger sequencing of genes associated with the suspected ***-generation sequencing(NGS)enables the simultaneous sequencing of a large number of hereditary cancer ***,we aimed to study whether other germline pathogenic variants of hereditary cancer genes are present in patients with ***:A cohort of 84 probands with a previous genetic diagnosis of LS by Sanger sequencing was reanalyzed using NGS via a commercial panel of 94 hereditary cancer genes by hybrid *** American College of Medical Genetics and Genomics criteria were used to classify the clinical significance of the *** findings of NGS were confirmed by Sanger *** possible,genetic analyses of the new findings in the proband’s relativeswere also performed by Sanger ***:We identified five families(6%),out of 84,with at least two germline pathogenic variants conferring to high or moderate risk in different dominant cancer-predisposing genes:[MLH1-BRCA2-NBN],[MLH1-BRCA1],[MSH2-ATM],[MSH6-NF1],and[MLH1-FANCA].Interestingly,only one out of these five families exhibited a clinical phenotype associated with the new pathogenic *** family with three pathogenic variants of the[MLH1-BRCA2-NBN]genes showed a high aggregation of tumors associated with LS and breast and ovarian cancer ***:Our results showed that the co-occurrence of more than one pathogenic variant in cancer-predisposing genes was remarkable among cases of *** cases,no clinicial manifestations were associated with the secondary pathogenic *** studies are needed to confirm these findings and elucidate their clinical *** of LS families should be considered only in fa

关键词： cancer panel hereditary cancer lynch syndrome moderate penetrance genes multilocus inherited neoplasia alleles syndrome next-generation sequencing secondary findings

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林奇综合征患者中同时具有不同遗传性肿瘤综合征的种系变异

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癌症 2022年第5期41卷 215-225页

作者： Rosario Ferrer-Avargues María Isabel castillejo Estela Dámaso Virginia Díez-Obrero NoemíGarrigos Tatiana Molina Alan Codoñer-Alejos Ángel Segura Ana Beatriz Sánchez-Heras adela castillejo JoséLuis Soto Foundation for the Promotion of Health and Biomedical Research of Valencia Region(FISABIO) FISABIO-Elche Health DepartmentElche 032303Spain Molecular Genetics Unit.Elche University Hospital Elche 032303Spain Department of Molecular Biopathology Immunological Center of AlicanteSan Juan-Alicante 03550Spain Medical Oncology Department Cancer Genetic Counseling Unit.La Fe University HospitalValencia 46026Spain Medical Oncology Department Cancer Genetic Counseling Unit.Elche University HospitalElche 03203Spain

背景与目的林奇综合征(lynch syndrome,LS)是一种遗传性疾病,LS患者罹患结直肠癌、子宫内膜癌和其他与DNA错配修复基因发生种系突变相关肿瘤的风险较高。LS的传统遗传诊断方法为对与疑似综合征相关的基因进行桑格测序。二代测序技术(nex... 详细信息

背景与目的林奇综合征(lynch syndrome,LS)是一种遗传性疾病,LS患者罹患结直肠癌、子宫内膜癌和其他与DNA错配修复基因发生种系突变相关肿瘤的风险较高。LS的传统遗传诊断方法为对与疑似综合征相关的基因进行桑格测序。二代测序技术(next-generation sequencing,NGS)可同时对大量遗传性癌基因进行测序。本研究旨在探究林奇综合征患者中是否存在其他遗传性种系病理癌基因变异。方法我们选取先前已利用桑格测序遗传诊断法确诊的84例LS先证者作为研究对象,通过杂交捕获一组94个商业化的遗传癌基因,随后对这些捕获的样本进行NGS测序。按照美国医学遗传学和基因组学标准,对这些变异的临床意义进行分类。利用桑格测序验证NGS的结果。在可能的情况下,利用桑格测序进一步在先证者的亲属中进行新发现种系变异基因的遗传分析。结果我们从84个家族中鉴定出5(6%)个至少含有2个种系致病变异的家族,这些变异具有高或中等的诱发不同显性癌症的风险,这些家族的种系致病变异如下:[MLH1-BRCA2-NBN]、[MLH1-BRCA1]、[MSH2-ATM]、[MSH6-NF1]和[MLH1-FANCA]。有趣的是,这5个家族中只有1个家族表现出与新的致病变异相关的临床表型。含有3个致病变异基因[MLH1-BRCA2-NBN]的家族显示出LS、乳腺和卵巢癌综合征相关肿瘤的高度聚集特性。结论我们的研究表明,癌症易感基因中,同时发生多个致病变异是LS病例的显著特点。在大部分的病例中,继发性致病变异与临床表型不相关。将来需要进一步验证这些结论并阐明其临床影响。只有表现出复杂的临床表型家族才有必要重新对LS进行分析。

关键词：癌症组遗传性癌症林奇综合征中度外显基因多位点遗传性肿瘤等位基因综合征二代测序次要发现

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EXISTENCE RESULTS FOR GLOBALLY EFFICIENT SOLUTIONS OF VECTOR EQUILIBRIUM PROBLEMS VIA A GENERALIZED KKM PRINCIPLE

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Acta Mathematica Scientia 2017年第2期37卷 463-476页

作者： adela CAPATA Technical University of Cluj-Napoca Department of Mathematics G. Baritiu 25 Room 198 Romania

The aim of this article is to present new existence results for globally efficient solutions of a strong vector equilibrium problem given by a sum of two functions via a generalized KKM principle, and to establish the... 详细信息

关键词： KKM principle equilibrium problems given by a sum globally efficient solution near C-subconvexlikeness

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Detecting Malicious Uniform Resource Locators Using an Applied Intelligence Framework

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Computers, Materials & Continua 2024年第6期79卷 3827-3853页

作者： Simona-Vasilica Oprea adela Bara Department of Economic Informatics and Cybernetics Bucharest University of Economic StudiesBucharest010572Romania

The potential of text analytics is revealed by Machine Learning(ML)and Natural Language Processing(NLP)*** this paper,we propose an NLP framework that is applied to multiple datasets to detect malicious Uniform Resource Locators(URLs).Three categories of features,both ML and Deep Learning(DL)algorithms and a ranking schema are included in the proposed *** apply frequency and prediction-based embeddings,such as hash vectorizer,Term Frequency-Inverse Dense Frequency(TF-IDF)and predictors,word to vector-word2vec(continuous bag of words,skip-gram)from Google,to extract features from ***,we apply more state-of-the-art methods to create vectorized features,such as ***,feature engineering that is specific to URL structure is deployed to detect scams and other *** framework assessment,four ranking indicators are weighted:computational time and performance as accuracy,F1 score and type error *** the computational time,we propose a new metric-Feature Building Time(FBT)as the cutting-edge feature builders(like doc2vec or GloVe)require more *** applying the proposed assessment step,the skip-gram algorithm of word2vec surpasses other feature builders in ***,eXtreme Gradient Boost(XGB)outperforms other *** this setup,we attain an accuracy of 99.5%and an F1 score of 0.99.

关键词： Detecting malicious URL classifiers text to feature deep learning ranking algorithms feature building time

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A three-stage approach for resilience-constrained scheduling of networked microgrids

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Journal of Modern Power Systems and Clean Energy 2019年第4期7卷 705-715页

作者： Saeed TEIMOURZADEH Osman Bulent TOR Mahmut Erkut CEBECI adela BARA Simona Vasilica OPREA Engineering ProcurementResearch and Analysis(EPRA)Electric Energy Co.AnkaraTurkey Department of Economic Informatics and Cybernetics Faculty of CyberneticsStatistics and Economic InformaticsBucharest University of Economic Studies(BUES)BucharestRomania

This paper deals with optimal scheduling of networked microgrids(NMGs)considering resilience *** proposed scheme attempts to mitigate the damaging impacts of electricity interruptions by effectively exploiting NMG capabilities.A three-stage framework is *** Stage 1,the optimal scheduling of NMGs is studied through determining the power transaction between the NMGs and upstream network,the output power of distributed energy resources(DERs),commitment status of conventional DERs as well as demand-side *** Stage 2,the decisions made at Stage 1 are realized considering uncertainties pertaining to renewable generation,market price,power consumption of loads,and unintentional islanding of NMGs from the upstream network and *** 3 deals with uncertainties of unintentional islanding of each MG from the rest of islanded NMGs and *** problem is formulated as a mixed-integer linear programming problem and its effectiveness is assured by simulation studies.

关键词： Networked microgrid(NMG) Distributed energy resource(DER) Power system resilience Point estimate method

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Monitoring and Prediction of Indoor Air Quality for Enhanced Occupational Health

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Intelligent Automation & Soft Computing 2023年第1期35卷 925-940页

作者： adela POP(Puscasiu) Alexandra Fanca Dan Ioan Gota Honoriu Valean Technical University of Cluj Napoca Cluj NapocaRomania

The amount of moisture in the air is represented by relative humidity(RH);an ideal level of humidity in the interior environment is between 40%and 60%at temperatures between 18°and 20°*** the RH falls below this level,the environment becomes dry,which can cause skin dryness,irritation,and discomfort at low *** the humidity level rises above 60%,a wet atmosphere develops,which encourages the growth of mold and *** and allergy symptoms may occur as a *** health is harmed by excessive humidity or a lack *** can be used to provide an optimal level of humidity and a stable and pleasant atmosphere;certain models disinfect and purify the water,reducing the spread of *** design and implementation of a client-server indoor and outdoor air quality monitoring application are presented in this *** Netatmo station was used to acquire the data needed in the *** client is an Android application that allows the user to monitor air quality over a period of their *** a good monitoring process,the Netatmo modules were used to collect data from both environments(indoor:temperature(T),RH,carbon dioxide(CO_(2)),atmospheric pressure(Pa),noise and outdoor:T and RH).The data is stored in a database,using *** Android application allows the user to view the evolution of the measured parameters in the form of ***,the paper presents a prediction model of RH using Azure Machine Learning Studio(Azure ML Studio).The model is evaluated using metrics:Mean Absolute Error(MAE),Root Mean Squared Error(RMSE),Relative Absolute Error(RAE),Relative Squared Error(RSE)and Coefficient of Determination(CoD).

关键词： Machine learning indoor air quality humidity carbon dioxide relative humidity

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Physiological and pathological effects of amyloid-β species in neural stem cell biology

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Neural Regeneration Research 2019年第12期14卷 2035-2042页

作者： adela Bernabeu-Zornoza Raquel Coronel Charlotte Palmer María Monteagudo Alberto Zambrano Isabel Liste Unidad de Regeneración Neural Unidad Funcional de Investigación de Enfermedades Crónicas. Instituto de Salud Carlos Ⅲ(ISCⅢ) Majadahonda Madrid Spain

Although amyloid-β peptide is considered neurotoxic, it may mediate several physiological processes during embryonic development and in the adult brain. The pathological function of amyloid-β peptide has been extensively studied due to its implication in Alzheimer’s disease, but its physiological function remains poorly understood. Amyloid-β peptide can be detected in non-aggregated (monomeric) and aggregated (oligomeric and fibrillary) forms. Each form has different cytotoxic and/or physiological properties, so amyloid-β peptide and its role in Alzheimer’s disease need to be studied further. Neural stem cells and neural precursor cells are good tools for the study on neurodegenerative diseases and can provide future therapeutic applications in diseases such as Alzheimer’s disease. In this review, we provide an outline of the effects of amyloid-β peptide, in monomeric and aggregated forms, on the biology of neural stem cells/neural precursor cells, and discuss the controversies. We also describe the possible molecular targets that could be implicated in these effects, especially GSK3β. A better understanding of amyloid-β peptide (both physiological and pathological), and the signaling pathways involved are essential to advance the field of Alzheimer’s disease.

关键词： amyloid-β peptide Aβ neural stem cells neural progenitor cells Alzheimer's disease amyloid precursor protein toxicity neurogenesis gliogenesis GSK3β

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A Japanese Company Offers You Fake Friends for a Shoot

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新高考(英语进阶) 2017年第Z2期 62-63页

作者： adela

词数:446阅读难度:★★★☆☆建议阅读时间:5分钟Want to brag(自夸)about your active social life on Facebook,when you really have no friends?Try to make your ex jealous by posing with an attractive new partner,but can’t find a date?No need to worry,because this Japanese company will happily send you some fake friends or lovers for a fun photo shoot that

关键词： A Japanese Company Offers You Fake Friends for a Shoot

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Nonalcoholic fatty liver disease, metabolic risk factors, and hepatocellular carcinoma: An open question

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World Journal of Gastroenterology 2015年第14期21卷 4103-4110页

作者： Letitia adela Maria Streba Cristin Constantin Vere Ion Rogoveanu Costin Teodor Streba Internal Medicine Medical SemiologyUniversity of Medicine and Pharmacy of Craiova Research Center of Gastroenterology and Hepatology of Craiova University of Medicine and Pharmacy of Craiova Internal Medicine GastroenterologyUniversity of Medicine and Pharmacy of Craiova

Non-alcoholic liver disease(NAFLD) defines liver abnormalities ranging from simple steatosis to nonalcoholic steatohepatitis with or without cirrhosis development, occurring in the absence of significant alcohol consumption, use of teratogenic medication, or hereditary *** association between NAFLD and metabolic syndrome is well documented and widely ***, type 2 diabetes mellitus(T2DM), and dyslipidemia are the most common metabolic risk factors associated with *** the components of metabolic syndrome, current evidence strongly indicates obesity and diabetes as hepatocellular carcinoma(HCC) risk *** is also growing evidence that suggests an increased risk of HCC in NAFLD patients, even surpassing other etiologies in some high-income *** data demonstrate a parallel rise in prevalence of obesity, diabetes, NAFLD, and *** obesity and its related diseases have steadily afflicted larger populations, HCC incidence is expected to increase in the *** mechanisms that underlie NAFLD development and subsequent progression to nonalcoholic steatohepatitis and cirrhosis(insulin resistance and hyperinsulinemia, oxidative stress, hepatic stellate cell activation, cytokine/adipocytokine signaling pathways, and genetic and environmental factors) appear to play a significant role in the development of NAFLD-related ***, a comprehensive view of molecular mechanisms linking obesity, T2 DM, and NAFLD-related HCC, as well as the exact sequence of molecular events, is still not understood in its ***-quality data are still necessary, and efforts should continue towards better understanding the underlying carcinogenic mechanisms of NAFLD-related *** this paper, we aimed to centralize the most important links supporting these relationships, focusing on obesity, T2 DM, and NAFLD-related HCC, as well as point out the major gaps in knowledge regarding the underlying molecular mechanisms beh

关键词： Diabetes mellitus Hepatocellular carcinoma Metabol

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Physiological effects of amyloid precursor protein and its derivatives on neural stem cell biology and signaling pathways involved

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Neural Regeneration Research 2019年第10期14卷 1661-1671页

作者： Raquel Coronel Charlotte Palmer adela Bernabeu-Zornoza María Monteagudo Andreea Rosca Alberto Zambrano Isabel Liste Unidad de Regeneración Neural Unidad Funcional de Investigación de Enfermedades Crónicas Instituto de Salud Carlos Ⅲ (ISCⅢ)

The pathological implication of amyloid precursor protein(APP)in Alzheimer’s disease has been widely documented due to its involvement in the generation of amyloid-β ***,the physiological functions of APP are still poorly *** is considered a multimodal protein due to its role in a wide variety of processes,both in the embryo and in the adult ***,APP seems to play a key role in the proliferation,differentiation and maturation of neural stem *** addition,APP can be processed through two canonical processing pathways,generating different functionally active fragments:soluble APP-α,soluble APP-β,amyloid-β peptide and the APP intracellular C-terminal *** fragments also appear to modulate various functions in neural stem cells,including the processes of proliferation,neurogenesis,gliogenesis or cell ***,the molecular mechanisms involved in these effects are still *** this review,we summarize the physiological functions of APP and its main proteolytic derivatives in neural stem cells,as well as the possible signaling pathways that could be implicated in these *** knowledge of these functions and signaling pathways involved in the onset or during the development of Alzheimer’s disease is essential to advance the understanding of the pathogenesis of Alzheimer’s disease,and in the search for potential therapeutic targets.

关键词： amyloid precursor protein APP soluble APP alpha soluble APP beta amyloid beta peptide APP intracellular domain neural stem cells neural progenitor cells neurogenesis signaling pathways

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