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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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Motivations for and barriers to innovation in non-profit organizations: The case of nursing homes in Northern Portugal

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International Journal of Innovation Studies 2024年第1期8卷 25-44页

作者： Ana Rita Gonçalves Lopes Aldina isabel de Azevedo Correia Alexandra maria da Silva Braga Center for Research and Innovation in Business Sciences and Information Systems School of Management and TechnologyPolitecnico do PortoRua do Curral-Margaride4610-156 FelgueirasPortugal

To contribute to the empirical literature on innovation in non-profit organizations,this study examines innovation in Private Social Solidarity Institutions with social responses for the elderly in Northern *** enriches the literature by clarifying the concept of innovation applied to non-profit organizations,which represents a perspective different from the business ***,it is important to support the innovation decisionmaking process in similar non-profit *** this study,the population was surveyed through questionnaires based on the PUBLIN research project,which has already been applied in different countries,and the targets were employees of organizations with social responses for the *** sample is small,with 28 respondent institutions and 51 employees,but it is representative,as it includes institutions from all districts in Northern *** study employed a quantitative approach,particularly factor analysis,multiple linear regression,and correlation analyses,using scales already applied in other dimensions of the social sector,to understand the effect of each innovation dimension/determinant on creativity and innovation in nonprofit *** results show that in these organizations with social responses for the elderly,learning orientation,risk-taking,and job satisfaction have a positive impact on innovation.

关键词： Determinants of innovation non-profit organizations social responses for the elderly Northern Portugal

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Primary carbohydrate metabolism genes participate in heat-stress memory at the shoot apical meristem of Arabidopsis thaliana

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Molecular Plant 2024年第4期17卷 676-676页

作者： Justyna Jadwiga Olas Federico Apelt maria Grazia Annunziata Sheeba John Sarah isabel Richard Saurabh Gupta Friedrich Kragler Salma Balazadeh Bernd Mueller-Roeber 不详

(Molecular Plant 14,1508-1524,September 62021)After the original publication of the above article,attentive readers identified errors in Figure 4H that needed correction as *** 4H contained the erroneous labels“10 DAP(7 DAT),”which should have each read,“7 DAP(4 DAT).”To avoid any confusion and ensure consistency across our figures,we modified some of the Col-0 images in a corrected version of Figure 4H below to resemble the exact same Col-0 images as in Figure *** details of the changes are as follows:rotation(Col-0 Primed,all timepoints;Col-0 Triggered,3 DAP and 5 DAP;Col-0 Primed/triggered,3 DAP and 5 DAP),replacement(Col-0 Triggered,7 DAP),and different cropping(Col-0 Primed/triggered,7 DAP).

关键词： Figure metabolism Prime

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Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa maria Jose Curras-Tuala Sara Pischedda Miriam Cebey-Lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao Alba Camino-Mera isabel Ferreiros-Vidal Maximo Fraga Jose RAntunez Rodolfo Gomez Federico Martinon-Torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)***,the molecular mechanisms underlying HO remain poorly *** a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

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Bean yellow disorder virus： Parameters of transmission by Bemisia tabaci and host plant range

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Insect Science 2011年第1期18卷 50-56页

作者： German Martin isabel maria Cuadrado Dirk Janssen Instituto Andaluz de Investigacion y Formacion Agraria y Pesquera Centro La Mojonera Almeria Spain

Bean yellow disorder virus （BnYDV） was recently identified as the first crinivirus （family Closteroviridae） that infects members of the family Leguminosae. It was first observed during the autumn of 2003, causing heavy losses in French bean （Phaseolus vulgaris L.） grown commercially in Spain. The virus is transmitted by the sweetpotato whitefly, Bemisia tabaci （Hemiptera： Aleyrodidae） Q-biotype, and disease symptoms resemble nutritional disorders consisting of interveinal mottling and yellowing in leaves, combined with stiffness or brittleness, and are typically produced on the middle to lower parts of the plant. Transmission experiments showed that 50% and 100% of B. tabaci adults acquired the virus after a feeding period of 3 and 7 h, respectively. Viruliferous whiteflies infected 66% and 100% ofP. vulgaris plants after a feeding period of 12 and 24 h, respectively. The transmission efficiency of single whiteflies was 37% and persistence of BnYDV in the vector lasted up to 2 weeks with a half-life of 9 days. BnYDV was transmitted to P. vulgaris, Pisum sativum L., Lens culinaris Medik., and Vicia faba L., but not to Vigna unguiculata L., Glycine max （L.） Merr., Cicer arietum L., and to crop species belonging to families of the Solanaceae and Cucurbitaceae. No virus was detected in field samples collected from 30 different species from Boraginaceae, Asteraceae, Geraniaceae, Lamiaceae, Leguminosae, Malvaceae, Scrophulariaceae, Thymelaeaceae and Verbenaceae. The restricted host range and efficient management of crops regarding whitefly infestation may be key elements in the control of BnYDV.

关键词： bean Closteroviridae Crinivirus disease vector whiteflies

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Super-low friction of ta-C coating in presence of oleic acid

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Friction 2014年第2期2卷 156-163页

作者： Makoto KANO Jean Michel MARTIN Kentaro YOSHIDA maria isabel DE BARROS BOUCHET Division of Mechanical&Material Engineering Kanagawa Industrial Technology Center705-1 Shimo-ImaizumiEbinaKanagawaJapan LTDS Ecole Centrale de Lyon 69380EcullyFrance

Friction tests have been carried out on bearing steel friction pairs coated with a-C:H and ta-C under lubricated conditions with 1-hexadecene and pure oleic acid,*** results show that ta-C leads to the super-low regime with oleic acid(friction coefficient below 0.01)and that a-C:H is quite well lubricated by *** analyses by coupling X-ray photoelectron spectroscopy(XPS)and secondary ion mass spectrometry(SIMS)have been carried out in the case of oleic acid with ta-C and a-C:H *** show that tribochemical reactions have *** groups terminate the ta-C surface whereas a-C:H is covered by a thin tribofilm and is terminated by oleic acid *** superlow regime in the case of ta-C is mainly attributed to the presence of the OH-termination.

关键词： epoxy composite short carbon fiber friction wear

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The ability of sperm selection techniques to remove single- or double-strand DNA damage

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Asian Journal of Andrology 2011年第5期13卷 764-768页

作者： maria Enciso Miriam Iglesias isabel Galan Jonas Sarasa Antonio Gosalvez Jaime Gosalvez Unidad de Genetica Departamento de Biologia Universidad Aut6noma de Madrid Madrid 28049 Spain Unidad de Reproducci6n Asistida Hospital Quir6n Madrid Madrid 28223 Spain

A wide variety of techniques for the preparation of sperm are currently available, of which the most commonly employed are densitygradient centrifugation （DGC） and swim-up （SUP）. To date, these methods appear to be effective in selecting functional sperm for assisted reproduction techniques （ART）, but they may have negative effects on sperm DNA. In this study, the ability of these semen processing techniques to eliminate spermatozoa containing single- and double-strand DNA damage was assessed by the two-tailed comet assay and the sperm chromatin dispersion test in 157 semen samples from patients seeking assisted reproduction treatment. Our results indicated that SUP and DGC are equally efficient in eliminating spermatozoa containing double-strand DNA damage and sperm with highly damaged （degraded） DNA, as characterized by the presence of both single- and double-strand DNA breaks. However, DGC is more efficient than SUP in selecting spermatozoa that are free from single-strand DNA damage. Future studies should characterise the importance of the various types of DNA damage and examine the sperm processing protocols used in each laboratory to determine their ability to eliminate DNA damage and hence, prevent the potential transmission of genetic mutations via ART.

关键词： density-gradient centrifugation male factor sperm chromatin dispersion sperm DNA fragmentation swim-up

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Oxypropylation of Brazilian Pine-Fruit Shell Evaluated by Principal Component Analysis

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Journal of Renewable Materials 2018年第7期6卷 715-723页

作者： Stephany Cde Rezende João APinto isabel PFernandes Fernanda VLeimann maria-Filomena Barreiro Laboratory of Separation and Reaction Engineering-Laboratory of Catalysis and Materials(LSRE-LCM) Polytechnic Institute of BragançaBragançaPortugal Programa de Pós-Graduação em Tecnologia de Alimentos(PPGTA) Universidade Tecnológica Federal do Paraná-UTFPR Campus Campo MourãoVia Rosalina Maria Dos Santos1233.CEP 87301-899.Caixa Postal:271Campo Mourão-PR-Brasil Mountain Research Centre(CIMO) Polytechnic Institute of BragançaBragançaPortugal

Pine-fruit shell (PFS) is a lignocellulosic residue derived from the fruit of Araucaria angustifolia, a coniferoustree native of South America, part of a whole vegetation of the Atlantic Forest, found in the South and Southwestof Brazil. In this work PFS will be characterized and used in the production of PFS-based polyols throughoxypropylation. Three series were chosen (PFS/propylene oxide (PO) (w/v, g/mL) of 30/70, 20/80 and 10/90)with four catalyst levels (5%, 10%, 15% and 20%, (w/w, PFS based)). Oxypropylation occurred at moderateconditions of temperature, pressure and time giving rise to liquid polyols with a homopolymer content (PPO)ranging from 4-65%, a hydroxyl number (IOH) between 257-605 mg KOH/g and viscosities (V) varying from0.76 Pa.s to 373.90 Pa.s (20°C) for the series 20/80 and 10/90, while for the series 30/70, the viscosity reachedvalues higher than 500 Pa.s, 20°C. The unreacted PFS (UR) varied between 3.6% and 77.4% (PFS-basis). Afterthe PFS-based polyols production and characterization, a principal component analysis (PCA) was performed inorder to evaluate the established interactions between the used formulation variables and the obtained polyolproperties. The PCA analysis allowed to clarify the interactions between PFS and PO contents and the finalbiopolyol properties (PPO, IOH, V and UR). This approach showed to be a simple method to rationally analyzethe influence of the input formulation variables on the final polyol properties.

关键词： Principal components analysis Brazilian pine-fruit shell (PFS) oxypropylation polyols

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Mechanism of superlubricity of a DLC/Si_(3)N_(4) contact in the presence of castor oil and other green lubricants

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Friction 2022年第10期10卷 1693-1706页

作者： Yun LONG Yang WANG Volker WEIHNACHT Stefan MAKOWSKI Momoji KUBO Jean Michel MARTIN maria-isabel DE BARROS BOUCHET Ecole Centrale de Lyon Laboratory of Tribology and System DynamicsUniversity of LyonEcully 69134France Institute for Materials Research Tohoku UniversitySendai 980-8577Japan Department of Mechanical Systems Engineering Graduate School of EngineeringTohoku UniversitySendai 980-8579Japan Fraunhofer Institute for Material and Beam Technology(IWS) Dresden 01277Germany

To meet the surging needs in energy efficiency and eco-friendly lubricants,a novel superlubricious technology using a vegetable oil and ceramic materials is *** coupling different hydrogen-free amorphous carbon coatings with varying fraction of sp^(2) and sp^(3) hybridized carbon in presence of a commercially available silicon nitride bulk ceramic,castor oil provides superlubricity although the liquid vegetable oil film in the contact is only a few nanometres thick at *** a partial liquid film possibly separating surfaces in contact,local tribochemical reactions between asperities are essential to maintain superlubricity at low *** local pressure activates chemical degradation of castor oil generating graphitic/graphenic-like species on top of asperities,thus helping both the chemical polishing of surface and its chemical passivation by H and OH ***,the formation of the formation of–(CH_(2)–CH_(2))n–noligomers have been evidenced to have a major role in the friction *** simulation unveils that formation of chemical degradation products of castor oil on friction surfaces are favoured by the quantity of sp^(2)-hybridized carbon atoms in the amorphous carbon ***,tuning sp^(2)-carbon content in hydrogen-free amorphous carbon,in particular,on the top layers of the coating,provides an alternative way to control superlubricity achieved with castor oil and other selected green lubricants.

关键词： superlubricity diamond-like carbon(DLC) sp^(2)-hybridized carbon hydrogen passivation castor oil

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Clinical presentation and early predictors for poor outcomes in pediatric myocarditis:A retrospective study

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World Journal of Clinical Cases 2019年第5期7卷 548-561页

作者： Moises Rodriguez-Gonzalez maria isabel Sanchez-Codez Manuel Lubian-Gutierrez Ana Castellano-Martinez Department of Pediatric Cardiology Puerta del Mar University Hospital Department of Pediatrics Puerta del Mar University Hospital Department of Pediatric Nephrology Puerta del Mar University Hospital

BACKGROUND Myocarditis is an important cause of morbidity and mortality in children, leading to long-term sequelae including chronic congestive heart failure, dilated cardiomyopathy, heart transplantation, and death. The initial diagnosis of myocarditis is usually based on clinical presentation, but this widely ranges from the severe sudden onset of a cardiogenic shock to asymptomatic patients. Early recognition is essential in order to monitor and start supportive treatment prior to the development of severe adverse events. Of note, many cases of fulminant myocarditis are usually misdiagnosed as otherwise minor conditions during the weeks before the unexpected *** To provide diagnostic clues to make an early recognition of pediatric *** investigate early predictors for poor *** We conducted a retrospective cross-sectional single-center study from January 2008 to November 2017 at the Pediatric Department of our institution, including children < 18-years-old diagnosed with myocarditis. Poor outcome was defined as the occurrence of any of the following facts: death, heart transplant, persistent left ventricular systolic dysfunction or dilation at hospital discharge(early poor outcome), or after 1 year of follow-up(late poor outcome). We analyzed different clinical features and diagnostic test findings in order to provide diagnostic clues for myocarditis in children. Multivariable stepwise logistic regression analysis was performed using all variables that had been selected by univariate analysis to determine independent factors that predicted a poor early or late outcome in our study *** A total of 42 patients [69% male; median age of 8(1.5-12) years] met study inclusion criteria. Chest pain(40%) was the most common specific cardiac symptom. Respiratory tract symptoms(cough, apnea, rhinorrhea)(38%),shortness of breath(35%), gastrointestinal tract symptoms(vomiting, abdominal pain, diarrhea)(33%), and fever(31%) were

关键词： Myocarditis Children Echocardiography N-terminal pro-brain natriuretic peptide Myocardial ischemia Cardiac magnetic resonance imaging Heart transplantation Dilated cardiomyopathy

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