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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

Macroinvertebrate　assemblages　of　surface　mine　wetlands　of　Southwest　virginia，USA

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Journal of Environmental Sciences 1996年第1期8卷 1-14页

作者： david H.Jones Robert B. Atkinson John Cairns,Jr.(department of Biology,virginia Polytechnic Institute and State University, Blacksburg,virginia 24061 USA) dept Biol Virginia Poly Inst Blacksburg VA 24061 United States

The focus of this study was to investigate the macroinvertebrate community in surface mine wetlands. Nine wetlands were sampled for macroinvertebrates from July 1993 through May *** sites represented a range of physical,chemical, and biological parameters. Macroinvertebrates were found in all sites;a total of 14 orders, 40 families,and 70 genera were identified in the samples. Insects were the most common invertebrates,and most functional feeding groups were represented. Predators dominated with 63% of the taxa, followed by the collector/gathers with 20%,shredders 14%, and scrapers 3%. Sites differed in the number of taxa inhabiting *** ranged from 10 genera to *** lowest richness was found in two seasonal wetlands that were dry for the majority of the year. A permanently flooded site with no water quality problems and a dense growth of aquatic plants had the highest richness.

关键词： macroinvertebrate assemblages surface mine wetlands wetland faunas.

Inflammatory bowel disease and celiac disease:Overlaps and differences

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World Journal of Gastroenterology 2014年第17期20卷 4846-4856页

作者： virginia Pascual Romina dieli-Crimi Natalia López-Palacios Andrés Bodas Luz María Medrano Concepción Nú?ez UGC de Inmunología Hospital Clínico San CarlosInstituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)28040 MadridSpain Servicio de digestivo Hospital Clínico San CarlosInstituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)28040 MadridSpain Servicio de Pediatría Hospital Clínico San CarlosInstituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)28040 MadridSpain

Recent findings demonstrate the common genetic basis for many immune-mediated diseases, and consequently, the partially shared pathogenesis. We collected these findings and reviewed the extension of these overlaps to other disease characteristics. Two autoimmune diseases were selected that also share the specific target organ, the bowel. The etiology and immunopathogenesis of both conditions characterized by chronic intestinal inflammation, inflammatory bowel disease (IBd) and celiac disease (Ced), are not completely understood. Both are complex diseases with genetics and environment contributing to dysregulation of innate and adaptive immune responses, leading to chronic inflammation and disease. Ced constitutes a particular disease because the main environmental and genetic triggers are largely known. IBd comprises two main clinical forms, Crohn’s disease and ulcerative colitis, which most likely involve a complex interplay between some components of the commensal microbiota and other environmental factors in their origin. These multifactorial diseases encompass a broad spectrum of clinical phenotypes and ages of onset, although the clinical presentation often differs depending on childhood or adult onset, with greater heterogeneity commonly observed in adults.

关键词： disease susceptibility Gene-environment interaction Immune system Inflammation Microbiota Inflammatory bowel disease

Perverse incentives and perverse publishing practices

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Science Bulletin 2015年第14期60卷 1225-1226页

作者： virginia Barbour Committee on Publication Ethics (COPE)

Over the past few years,publishing has becoming increasingly complex with new journals and business models,new technology,new models of peer review and new ways to collaborate and disseminate *** this,the pressure on academics to publish has become increasingly *** have always been the currency of academia—the key to tenure,grant renewal and ***,however,it is

关键词：出版物行为反常货币价值商业模式学术界

domestic reptiles as source of zoonotic bacteria:a mini review

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Asian Pacific Journal of Tropical Medicine 2017年第8期10卷 789-794页

作者： Valentina virginia Ebani department of Veterinary Science University of PisaI 56124 PisaItaly

Captive reptiles, always more often present in domestic environment as pets, may harbor and excrete a large variety of zoonotic pathogens. Among them, Salmonella is the most wellknown agent, whereas there are very scant data about infections by mycobacteria, chlamydiae and leptospirae in cold-blooded animals. However, the investigations that found antibody reactions and/or the bacteria in samples collected from free-ranging and captive reptiles show that herpetofauna may be involved in the epidemiology of these infections. The present review reports the updated knowledge about salmonellosis, mycobacteriosis, chlamydiosis and leptospirosis in reptiles and underlines the risk of infection to which people, mainly children, are exposed.

关键词： Reptiles Zoonosis Salmonellosis Mycobacteriosis Chlamydiosis Leptospirosis

Virtual ballistic impact testing of Kevlar soft armor:Predictive and validated finite element modeling of the V0-V100 probabilistic penetration response

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defence Technology（防务技术） 2018年第3期14卷 213-225页

作者： Gaurav Nilakantan Suzanne Horner virginia Halls James Zheng Teledyne Scientific&Imaging Thousand OaksCA 91360USA Program Executive Office Soldier Fort BelvoirVA 22060USA

This works presents the first fully validated and predictive capability to model the V_0-V_(100) probabilistic penetration response of a woven fabric using a yarn-level fabric finite element model. The V_0-V_(100) curve describes the probability of complete fabric penetration as a function of projectile impact velocity. The exemplar case considered in this paper comprises of a single-layer, fully-clamped, plain-weave Kevlar fabric impacted at the center by a 17-gr, 0.22 cal FSP or fragment-simulating projectile. Each warp and fill yarn in the fabric is individually modeled using 3 d finite elements and the virtual fabric microstructure is validated in detail against the experimental fabric microstructure. Material and testing sources of statistical variability including yarn strength and modulus, inter-yarn friction, precise projectile impact location, and projectile rotation are mapped into the finite element model. A series of impact simulations at varying projectile impact velocities is executed using LS-dYNA on the fabric models, with each model comprising unique mappings. The impact velocities together with the outcomes(penetration, nonpenetration) are used to generate the numerical V_0-V_(100) curve which is then validated against the experimental V_0-V_(100) curve. The numerical Vi-Vrdata(impact, residual velocities) is also validated against the experimental Vi-Vrdata. For completeness, this paper also reports the experimental characterization data and its statistical analysis used for model input, viz. the Kevlar yarn tensile strengths, moduli, and inter-yarn friction, and the experimental ballistic test data used for model validation.

关键词： Kevlar 有限元素测试数据验证概率预兆弹道虚拟

Marsh persistence under sea-level rise is controlled by multiple,geologically variable stressors

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Ecosystem Health and Sustainability 2017年第10期3卷 22-38页

作者： M.Mitchell J.Herman d.M.Bilkovic C.Hershner virginia Institute of Marine Science College of William&MaryGloucester PointVAUSA

Introduction:Marshes contribute to habitat and water quality in estuaries and coastal *** importance to continued ecosystem functioning has led to concerns about their ***:Concurrent with sea-level rise,marshes are eroding and appear to be disappearing through ponding in their interior;in addition,in many places,they are being replaced with shoreline stabilization *** examined the changes in marsh extent over the past 40 years within a subestuary of Chesapeake Bay,the largest estuary in the United States,to better understand the effects of sea-level rise and human pressure on marsh ***:Approximately 30 years ago,an inventory of York River estuary marshes documented the historic extent of *** were resurveyed in 2010 to examine shifts in tidal marsh extent and *** change varied spatially along the estuary,with watershed changes between a 32%loss and an 11%gain in marsh *** of marsh was apparent in high energy sections of the estuary while there was marsh gain in the upper/riverine section of the estuary and where forested hummocks on marsh islands have become *** showed little change in the small tributary creeks,except in the creeks dominated by fringing marshes and high shoreline ***:differential resilience to sea-level rise and spatial variations in erosion,sediment supply,and human development have resulted in spatially variable changes in specific marsh extents and are predicted to lead to a redistribution of marshes along the estuarine gradient,with consequences for their unique communities.

关键词： Chesapeake Bay climate change coastal resilience marsh change salt marsh sea-level rise tidal wetlands

State-of-the-art review on multi-criteria decision-making in the transport sector

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Journal of Traffic and Transportation Engineering(English Edition) 2020年第4期7卷 413-431页

作者： George Yannis Angeliki Kopsacheili Anastasios dragomanovits virginia Petraki department of Transportation Planning and Engineering National Technical University of AthensZografou 15773Greece Attiko Metro S.A. Athens 11525Greece

Consistent decision-making requires a structured and systematic evaluation of advantages and disadvantages of different choice *** transport projects,policies or policy measures,and transport options evaluation,various multi-criteria methods have been developed and effectively applied to complement conventional cost effectiveness and cost benefit *** present paper aims to present a state-of-the-art review of pertinent literature regarding multi-criteria decision-making(MCd M)in the transport sector,focusing on the basic concepts and procedure for multi-criteria decision-making in the transport sector,along with its role and evaluation parameters.A large selection of over 50 papers and publications between 1982 and 2019 have been reviewed,in order to provide an insight into the uses of MCdM methods in transport *** commonly used MCdM metho ds techniques are identified and discussed through a wide review of pertinent literature,research and case studies,leading to interesting conclusions that provide a valuable insight into the use of multicriteria analysis techniques in transport sector related *** on the wide range of reviewed literature,it is concluded that MCdM methods are being applied mostly to evaluate transport options rather than transport policies or projects and the most commonly used MCdM method in transport sector problems are analytic hierarchy process(AHP).

关键词： Traffic engineering Multi-criteria analysis Multiple-attribute decision-making Multiple-objective decision-making

The Role of Public Health Within the United Nations Post-2015 Framework for disaster Risk Reduction

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International Journal of disaster Risk Science 2015年第1期6卷 28-37页

作者： virginia Murray Amina Aitsi-Selmi Kevin Blanchard Public Health Strategy division Public Health England

This article explores the role of public health systems before, during, and after disasters, particularly within the scope of the United Nations Post-2015 Framework for disaster Risk Reduction. It also examines the role of scientific and technological developments in assisting with improving the resilience of public health professionals and the communities they work in. In addition, it explores how the wide-ranging activities in public health have already contributed to the improved management of disasters and a decrease in associated risks. The article identifies areas of synergy in five key areas of recent policy and practice in public health(the health systems approach, risk assessments, the WHO/UNISdR/HPA disaster Risk Management fact sheets, chronic disease and disasters, and mental health impacts following disasters) and makes suggestions based on lessons identified from the previous(2005) global disaster risk reduction framework. In particular, we advocate the use of scientific evidence that addresses health and disaster risk simultaneously to increase the effectiveness of policy and practice in disaster risk reduction, health, and public health.

关键词： disaster risk reduction Health systems Post-2015 framework Public health Risk assessments