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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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Tailoring thermal conductivity by engineering com- positional gradients in Sil-xGex superlattices

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Nano Research 2015年第9期8卷 2833-2841页

作者： Pablo Ferrando-Villalba1 Aitor F. Lopeandia Francesc Xavier Alvarez Biplab Paul Carla deTomas maria isabel Alonso Miquel Garriga Alejandro R. Goni Jose Santiso Gemma Garcia Javier Rodriguez-Viejo Grup de Nanomaterials i Microsistemes Departament de Fisica Universitat Autbnoma de Barcelona 08193 Bellaterra Spain Grup de Fisica Estadistica Departament de Fisica Universitat Aut6noma de Barcelona 08193 Bellaterra Spain Institut de Ciencia de Materials de Barcelona (ICMAB-CSIC) Campus UAB 08193 Bellaterra Spain ICREA Passeig Lluis Companys 23 08010 Barcelona Spain Institut Catala de Nanociencia i Nanotecnologia ICN2-CSIC Campus UAB 08193 Bellaterra Spain

The transport properties of artificially engineered superlattices （SLs） can be tailored by incorporating a high density of interfaces in them. Specifically, SiGe SLs with low thermal conductivity values have great potential for thermoelectric generation and nano-cooling of Si-based devices. Here, we present a novel approach for customizing thermal transport across nanostructures by fabricating Si/Sil-xGex SLs with well-defined compositional gradients across the SiGe layer from x = 0 to 0.60. We demonstrate that the spatial inhomogeneity of the structure has a remarkable effect on the heat-flow propagation, reducing the thermal conductivity to -2.2 W.m-1.K-1, which is significantly less than the values achieved previously with non-optimized long-period SLs. This approach offers further possibilities for future applications in thermoelectricity.

关键词： SiGe supeflattices,thermal conductivity,composition gradients,heat transport

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The Engagement Between Education,Community and the Needs of Industry

The Engagement Between Education,Community and the Needs of ...

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2011 2nd International Conference on Education and Management Technology(ICEMT 2011)

作者： Pusanisa Thechatakerng Melquicedec lozano maria isabel Velasco Faculty of Business Administration Maejo University Director de Investigaciones del CDEE Universidad Icesi Directora del Centro de Desarrollo Profesional Universidad Icesi

The engagement strategy,has been seen as an importance tools for enhancing students knowledge from their workplace,industry and ***,the study in this area was still limited,then this paper tried to identify the experiences of a university issues relating to workforce development and the engagement used by university and *** in-depth interviewed was used with the purposive target *** research showed the relation between university and industry through the CEDEP five periods practice or four steps of Vickers et al.（2004）;a) work-based learning-WBL （the period of formation and,promotion and working place）,b) Levers ＆ enabler （continuing to practice）,c) management of change （information evaluation and feedback）,d) building partnership （programme of work place for newly graduated student and online job application）.These practice periods illustrated the excellent performance of participants with receiving the above or standard salary,having 95% of participants who obtained job,and satisfying toward job *** result,however,also demonstrated that the direct engagement between university and community needed to be improved.

关键词： engagement alliances industry education community

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Assessment of the Risk of Violence in Portuguese Psychiatric Settings Using the Broset Violence Checklist

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Sociology Study 2015年第5期5卷 360-370页

作者： maria isabel Marques Aida Bessa Licinia Santos Sara Carvalho Goreti Neves Nursing School of Coimbra Portugal University Hospital of Coimbra Portugal Community Health Center in Figueira da Foz Portugal

The risk of violence in psychiatric settings implies the assessment of dynamic predictors to adjust nursing interventions. So as to identify the pattern of aggressive behaviors, assess the dynamic predictors of violence in hospitalized patients, and analyze the predictive qualities of the Brcset Violence Checklist （BVC）, an exploratory/descriptive study was conducted in psychiatric wards in Coimbra, Portugal. The instruments used were： the staff observation aggression scale-revised （SOAS-R）, visual analogue scale （VAS）, and the BVC. For the period of a month, 64 patients with a mean age of 29 years, unemployed, and with psychotic disorders were observed. In this group, 13 people displayed 15 aggressive behaviors of moderate severity, which had consequences for nurses; they were triggered by the denial of something through verbal aggression and controlled by non-restrictive measures. The most common predictors of violence were irritability and boisterousness. It was also concluded that the BVC shows good predictive characteristics （sensitivity and specificity） of violence, thus, it may be considered as a useful and effective instrument to assess the risk of violence and, consequently, to adjust nursing interventions to prevent this phenomenon.

关键词： Risk assessment violence patients psychiatry

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Diagnosis and treatment of iron-deficiency anemia in gastrointestinal bleeding:A systematic review

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World Journal of Gastroenterology 2020年第45期26卷 7242-7257页

作者： Jose Cotter Cilenia Baldaia Manuela Ferreira Guilherme Macedo isabel Pedroto Department of Gastroenterology Hospital da Senhora da Oliveira-GuimarãesGuimarães 4835-044Portugal Department of Life and Health Sciences Research Institute(ICVS) School of MedicineUniversity of MinhoBraga 4710-057Portugal Department of Life and Health Sciences Research Institute(ICVS)/3B’s PT Government Associate LaboratoryBraga 4710-057Portugal Department of Gastroenterology Hospital de Santa MariaCentro Hospitalar Lisboa NorteLisbon 1649-035Portugal Department of University Clinic of Medicine II Faculty of MedicineUniversity of LisbonLisbon 1649-028Portugal Department of Gastroenterology Centro Hospitalar e Universitário de CoimbraCoimbra 3000-075Portugal Department of Faculty of Medicine University of CoimbraCoimbra 3004-504Portugal Department of Gastroenterology Centro Hospitalar de São JoãoPorto 4200-319Portugal Department of Gastroenterology Faculty of MedicineUniversity of PortoPorto 4200-319Portugal Department of Gastroenterology and Hepatology Training Center World Gastroenterology OrganizationPorto 4200-319Portugal Department of Gastroenterology Centro Hospitalar do PortoPorto 4099-001Portugal Department of Institute of Biomedical Sciences Abel Salazar University of PortoPorto 4050-313Portugal

BACKGROUND Anemia is considered a public health issue and is often caused by iron ***-deficiency anemia(IDA)often originates from blood loss from lesions in the gastrointestinal tract in men and postmenopausal women,and its prevalence among patients with gastrointestinal bleeding has been estimated to be 61%.However,few guidelines regarding the appropriate investigation of patients with IDA due to gastrointestinal bleeding have been *** To review current evidence and guidelines concerning IDA management in gastrointestinal bleeding patients to develop recommendations for its diagnosis and *** Five gastroenterology experts formed the Digestive Bleeding and Anemia Workgroup and conducted a systematic literature search in PubMed and professional association ***(via PubMed)searches combined medical subject headings(MeSH)terms and the keywords“gastrointestinal bleeding”with“iron-deficiency anemia”and“diagnosis”or“treatment”or“management”or“prognosis”or“prevalence”or“safety”or“iron”or“transfusion”or“quality of life”,or other terms to identify relevant articles reporting the management of IDA in patients over the age of 18 years with gastrointestinal bleeding;retrieved studies were published in English between January 2003 and April *** professional association websites were searched for clinical practice *** lists from guidelines were reviewed to identify additional relevant *** recommendations were developed by consensus during two meetings and were supported by the published literature identified during the systematic *** From 494 Literature citations found during the initial literature search,17 original articles,one meta-analysis,and 13 clinical practice guidelines were *** on the published evidence and clinical experience,the workgroup developed the following ten recommendations for the management of IDA in patients with gastrointestinal bleeding:(1)Evaluation of

关键词： Anemia iron-deficiency Erythrocyte transfusion Ferric carboxymaltose Gastrointestinal hemorrhage Iron Practice guidelines as topic

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Gut Lymphangiopathy: Adding Fuel to the Fire in Chronic Liver Disease

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Advances in Bioscience and Biotechnology 2019年第10期10卷 305-319页

作者： Luis Tresierra maria-Angeles Aller isabel Prieto Luis Santamaria Jaime Arias Department of Surgery Sant Joan Despi Moises Broggi Hospital Barcelona Spain Department of Surgery School of Medicine Complutense University of Madrid Madrid Spain Department of General and Digestive Surgery La Paz Hospital Autonoma University of Madrid Madrid Spain Department of Anatomy Histology and Neuroscience School of Medicine Autonoma University of Madrid Madrid Spain.

The splanchnic inflammation inchronic liver disease increases intestinal angiogenesis. In the current study our aim was demonstrating that the small bowel lymphangiogenesis is associated with angiogenesis in chronic cholestasis in the rat. A stereological study of the lymphatic microcirculation in the small intestine was performed in cholestatic rats. Portal enteropathy in cholestasis increases lymphatic microvessels in the mucosa and submucosa layers. Thus, the lymphatic microvessel volume fraction was superior (p < 0.001) in the mucosa (0.16 ± 0.01) and submucosa (0.16 ± 0.01), in regard to the muscle layer 0.015 ± 0.01. The lymphatic microvessel length density was higher in the mucosa (76.89 ± 2.86 mm-2;p -2;p < 0.01), in relationship to the muscle layer (5.04 ± 2.92 mm-2). These alterations predominate in the duodenum (volume fraction: 0.10 ± 0.01 and length density: 33.55 ± 5.98 mm-2) and ileum (volume fraction: 0.16 ± 0.01 and length density: 38.62 ± 6.07 mm-2). This study demonstrates the predominance of an increased lymphangiogenic response in both end sides of the small bowel associated with chronic liver disease. Since the porto-systemic venous collateral circulation in the chronic liver insufficiency is developed in the ends of the gastrointestinal tract, the excessive duodeno-ileal lymphangiogenesis could suggest the development of amesenteric-systemic lymphatic bypass in the chronic portal hypertension.

关键词： Chronic Liver Disease Lymphangiogenesis Microsurgery Collateral LymphaticCirculation

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Clinical-pathological and molecular characterization of long-term survivors with advanced non-small cell lung cancer

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Cancer Biology & Medicine 2020年第2期17卷 444-457页

作者： Juan Moreno-Rubio Santiago Ponce Rosa Alvarez maria Eugenia Olmedo Sandra Falagan Xabier Mielgo Fatima Navarro Patricia Cruz Luis Cabezon-Gutierrez Carlos Aguado Gonzalo Colmenarejo Marta Munoz-Fernandez de Leglaria Ana Belen Enguita maria Cebollero Amparo Benito isabel Alemany Carolina del Castillo Ricardo Ramos Ana Ramirez de Molina Enrique Casado maria Sereno Ana Ramirez de Molina1 Enrique Casado5Maria Sereno5 XIMDEA Food InstituteCEI UAM+CSICMadrid 28702Spain 12 de Octubre University Hospital Madrid 28041Spain Gregorio Maranon University Hospital Madrid 28009Spain Ramon y Cajal University Hospital Madrid 28034Spain Infanta Sofia University Hospital San Sebastian De Los ReyesMadrid 28702Spain Fundacion Alcorcon University Hospital AlcorconMadrid 28922Spain Prlncipe de Asturias University Hospital Alcala De HenaresMadrid 28805Spain La Paz University Hospital Madrid 28046Spain University Hospital of Torrejon Torrejon De ArdozMadrid 28850Spain Clinico San Carlos University Hospital Madrid 28040Spain Parque Cientifico de Madrid Foundation Madrid 28049Spain

Objective:Long-term survivors(LS)of non-small cell lung cancer(NSCLC)without driver alterations,displaying an overall survival(OS)of more than 3 years,comprise around 10%of cases in several series treated with *** are classical prognosis factors for these cases[stage,Eastern Cooperative Oncology Group(ECOG),etc.],but more data are required in the *** this multi-center study,we focused on LS of advanced NSCLC with OS above 36 months to perform a clinical-pathological and molecular ***:In the first step,we conducted a clinical-pathological characterization of the ***,we carried out a genetic analysis by comparing LS to a sample of short-term survivors(SS)(with an OS less than 9 months).We initially used whole-genome RNA-seq to identify differentiating profiles of LS and SS,and later confirmed these with reverse transcription-polymerase chain reaction(RT-PCR)for the rest of the ***:A total of 94 patients were included,who were mainly men,former smokers,having adenocarcinoma(AC)-type NSCLC with an ECOG of *** obtained an initial differential transcriptome expression,displaying 5 over-and 33 under-expressed genes involved in different pathways:namely,the secretin receptor,surfactant protein,trefoil factor 1(T FF1),serpin,Ca-channels,and Tolllike receptor(TLRs)***,RT-PCR analysis of 40(20 LS/20 SS)samples confirmed that four genes(surfactant proteins and SFTP)were significantly down-regulated in SS compared to LS by using an analysis of covariance(ANCOVA)model:SFTPA1(P=0.023),SFTPA2(P=0.027),SFTPB{P=0.02),and SFT PC(P=0.047).Conclusions:We present a sequential genetic analysis of a sample of NSCLCLS with no driver alterations,obtaining a differential RNA-seq/RT-PCR profile showing an abnormal expression of SF genes.

关键词： Long-term survivors non-small cell lung cancer surfactant proteins

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Effect of Transport Time and Handling on Physiological Responses of Cattle

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Journal of Agricultural Science and Technology(A) 2012年第6期2卷 800-814页

作者： Girma Gebresenbet isabel Wikner Emmanuel Yaovi Hunnuor Bobobee Gustavo maria Morris Villarroel Department of Energy and Technology Swedish University of Agricultural Sciences Box 7032 Uppsala 75007 Sweden Department of Agricultural Engineering KNUST Ghana Universidad de Zaragoza Catedra de Produccion Animal Facultad de Veterinaria 50013 Zaragoza Spain

The objective of this work was to determine the effect of transport time （up to 11 hours） on animal welfare. 540 animals （cows, bulls and calves）, three transport times of 2, 4 to 6, and 10 to 11 hours, and two space allowances （2 m2 and 1.5 m2 per animal for cows and bulls; and 1.2 m2 and 0.8 m2 per animal for calves） were used for the experiment during transport from farms to the abattoir in Uppsala, Sweden. Measurements were made on five animals on each trip. Stress response parameters considered were cortisol, glucose, lactate, creatine kinase and heart rate. Blood samples were taken before and after transport. Heart rate sensors were mounted on the animals at least 30 minutes before loading and measurements were made continuously from farms to the abattoirs until stunning. The results of heart rate measurement indicated that loading, un-loading and forced movement in the stunning box were the most stressful events. However, the results of statistical analysis confirmed that transport time doesn＇t have significant effect （P 〈 0.05） on heart rate. Concentration level of cortisol increased by 10 folds during short transport. However, cortisol concentration decreased with an increase of transport times （P 〈 0.01）. Glucose concentrations increased with transport time in all animal categories （P ≤ 0.01）. Transport time has significant effect on concentration levels of glucose （P ≤ 0.01）, creatine kinase （P 〈 0.001） and lactate （P 〈 0.01） particularly after 6 hours journey time.

关键词： Transport time cattle welfare physiological parameters

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New In Vitro Studies on the Bioprofile of Genista tenera Antihyperglycemic Extract

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Natural Products and Bioprospecting 2015年第6期5卷 277-285页

作者： Daniela Batista Pedro L.Falé maria L.Serralheiro maria E.Araújo Paulo J.A.Madeira Carlos Borges isabel Torgal Margarida Goulart Jorge Justino Alice Martins Amélia P.Rauter Centro de Química e Bioquímica Faculdade de CiênciasUniversidade de LisboaCampo Grande1749-016 LisbonPortugal Institute of Pharmaceutical Science King’s College London150 Stamford StreetLondon SE19NHUK Escola Superior Agrária de Santarém Quinta do Galinheiro2001-904 SantarémPortugal

The inhibition of a-glucosidase and glucose-6-phosphatase,two enzymes involved in the carbohydrate metabolism,is an important target to control glycaemia on individuals with type 2 *** this work we report for the first time the inhibition of both enzymes by the antihyperglycemic n-butanol extract from Genista tenera(Fabaceae).This extract decreased a-glucosidase and glucose-6-phosphatase activities to 0.97 and 80.25%,respectively,being more effective than acarbose,and phlorizin,the positive controls,which reduced enzymes activities only to 17.39 and 96.06%.Once inflammation and oxidative stress are related to diabetic impairments,the anti-inflammatory activity of the extract was also evaluated,through its inhibitory activity over COX-1 enzyme(47.5%inhibition).Moreover,after induction of oxidative stress by UV radiation,the viability of irradiated rat liver hepatoma cells exposed to the extract was significantly higher(67.82%)than that promoted by ascorbic acid,the positive control(45.05%).In addition,the stability of the extract under gastrointestinal conditions was evaluated by HPLC–DAD-ESI–MS/*** diglycosides were identified as the main constituents of the extract,and no alterations in the chemical composition nor in the antioxidant activity were observed after in vitro digestion with artificial gastric and pancreatic juices.

关键词： a-Glucosidase inhibition In vitro digestion HPLC-DAD-ESI-MS/MS Antioxidant activity Flavonoid glycosides

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Impact of HIV on the health-related quality of life in youth with perinatally acquired HIV

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World Journal of Pediatrics 2019年第5期15卷 492-498页

作者： isabel Cuéllar-Flores Talís Saínz Carlos Velo María isabel González-Tomé Cristina García-Navarro Caroclina Fernández-Mcphee Sara Guillén JoséTomás Ramos Pilar Miralles Rafae Rubio JoséIgnacio Bernardino Luis Prieto Pablo Rojo Santiago Jiménez de Ory maria Luisa Navarro CoRiSpe(FARO and NeuroCoRISpeS projects,RITIP-Traslational Research Network in Pediatric Infectious Diseases) Pediatric Department Hospital Clínico San CarlosMadridSpain Infectious Diseases Service Paed DepartmentHospital La PazMadridSpain La Paz Research Institute(IdiPAZ) MadridSpain Infectious Diseases Service Paed DepartmentHospital 12 de OctubreMadridSpain Infectious Diseases Service Paed DepartmentH.Gregorio MaranónMadridSpain Paed Department Hospital de GetafeMadridSpain Infectious Diseases Service H.Gregorio MaranónMadridSpain HIV Service Hospital 12 de OctubreMadridSpain Infectious Diseases Service Hospital La PazMadridSpain Instituto de Investigación Sanitaria Hospital Gregorio Maranón(IiSGM) MadridSpain Universidad Complutense de Madrid MadridSpain Translational Research Network in Pediatric Infectious Diseases(RITIP) MadridSpain 不详

Background Studies investigating health-related quality of life(HRQoL)in youth with perinatally acquired HIV(PHIV+)are *** study aimed to compare HRQoL of PHIV+to sociodemographic-matched youth not living with HIV(HIV-),Spanish general youth population,and to explore associations between sociodemographic variables,drug consumption,and *** PHIV+youth were randomly selected from CoRISpe database(Cohort of the Spanish Pediatric HIV Network).HRQoL was evaluated by *** Thirty-nine PHIV+youth(mean age:23.36 years,SD=3.83)and thirty-nine HIV-youth(mean age:22.97 years,SD=3.80)participated in this ***+obtained lower scores in SF-12 physical health subscale(PCS)than HIV-(P=0.001)and Spanish general youth population(P=0.006).PHIV+had lower scores on the mental health subscale(MCS)than the Spanish general youth population(P<0.001).PHIV+who were at school obtained better scores than those were not at ***+youth who had used cocaine and cannabis had lower scores in MCS(P=0.002).Conclusions There is a need for HRQoL management in the associated medical follow-up.

关键词： Drug consumption Health-related quality of life Mental health Perinatally acquired HIV youth

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