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Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

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Cancer Biology & Medicine 2016年第1期13卷 55-67页

作者： christine Stanislaw Yuan Xue William R.Wilcox Department of Human Genetics Emory University Atlanta GA 30322 USA Fulgent Diagnostics Temple City CA 92780USA

The introduction of next-generation sequencing(NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technology in the hereditary cancer clinic, including efficiency of time and cost, there are also important limitations that must be considered. The best panel for the given clinical situation should be selected to minimize the number of variants of unknown significance. The inclusion in panels of low penetrance or newly identified genes without specific actionability can be problematic for *** counselors are an essential part of the hereditary cancer risk assessment team, helping the medical team select the most appropriate test and interpret the often complex results. Genetic counselors obtain an extended family history, counsel patients on the available tests and the potential implications of results for themselves and their family members(pre-test counseling), explain to patients the implications of the test results(post-test counseling), and assist in testing family members at risk.

关键词：遗传性癌症遗传评价检测测序基因测试遗传咨询测试技术

Egg CD9 protein tides correlated with sperm oscillations tune the gamete fusion ability in mammal

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Journal of Molecular Cell Biology 2018年第6期10卷 494-502页

作者： Benjamin Ravaux Sophie Favier Eric Perez and christine Gourier Laboratoire de Physique Statistique Ecole Normale Superieure/PSL Research UniversityUPMC Univ Paris 06Universite Paris DiderotCNRS75005 ParisFrance

Mammalian fertilization involves membrane events-adhesion,fusion,sperm engulfment,membrane block to polyspermy-whose causes remain largely ***,specific oscillations of the sperm in contact with the egg were shown to be necessary for *** a microfluidic chip to impose the venue for the encounter of two gametes allowed real-time observation of the membrane remodelling occurring at the sperm/egg *** spatiotemporal mapping of egg CD9 revealed that this protein concentrates at the egg/sperm interface as a result of sperm oscillations,until a CDg-rich platform is nucleated on which fusion immediately takes *** 2-5 min after fusion,most of the CD9 leaves the egg for the external aqueous *** an egg membrane wave engulfs the sperm head in^25 *** results show that sperm oscillations initiate the CD9 recruitment that causes gamete fusion after which CD9 and associated proteins leave the membrane in a process likely to contribute to block *** highlight that the gamete fusion story in mammals is an unexpected interplay between mechanical constraints and proteins.

关键词： mammalian fertilization membrane dynamics real-time imaging CDg sperm oscillations gamete fusion

Using the USLE: Chances, challenges and limitations of soil erosion modelling

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International Soil and Water Conservation Research 2019年第3期7卷 203-225页

作者： christine Alewell Pasquale Borrelli Katrin Meusburger Panos Panagos Environmental Geosciences University of BaselSwitzerland Swiss Federal Institute for Forest Snow and Landscape ResearchBirmensdorfSwitzerland European Commission Joint Research CenterIspraItaly

To give soils and soil degradation,which are among the most crucial threats to ecosystem stability,social and political visibility,small and large scale modelling and mapping of soil erosion is *** most widely used approaches during an 80year history of erosion modelling are Universal Soil Loss Equation (USLE)-type based algorithms which have been applied in 109 *** soil erosion by water (excluding gully erosion and land sliding),we start this review with a statistical evaluation of nearly 2,000 publications).We discuss model developments which use USLE-type equations as basis or side modules,but we also address recent development of the single USLE parameters (R,K,LS,C,P).Importance,aim and limitations of model validation as well as a comparison of USLE-type models with other erosion assessment tools are *** comparisons demonstrate that the application of process-based physical models (e.g.,WEPP or PESERA) does not necessarily result in lower uncertainties compared to more simple structured empirical models such as USLE-type *** identified four key areas for future research:(i) overcoming the principally different nature of modelled (gross) versus measured (net) erosion rates,in coupling on-site erosion risk to runoff patterns,and depositional regime,(ii) using the recent increase in spatial resolution of remote sensing data to develop process based models for large scale applications,(iii) strengthen and extend measurement and monitoring programs to build up validation data sets,and (iv) rigorous uncertainty assessment and the application of objective evaluation criteria to soil erosion modelling.

关键词： Universal soil loss equation RUSLE CSLE Soil redistribution Soil degradation Water erosion Model Review

Redox Changes during the Legume-Rhizobium Symbiosis

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Molecular Plant 2009年第3期2卷 370-377页

作者： christine Chang Isabelle Damiani Alain Puppo Pierre Frendo UMR INRA-Université de Nice-Sophia Antipolis-CNRS 'Interactions Biotiques et Santé Végétale' 400 Route des Chappes BP167 06903 Sophia Antipolis CedexFrance

Reactive Oxygen Species （ROS） are continuously produced as a result of aerobic metabolism or in response to biotic and abiotic stresses. ROS are not only toxic by-products of aerobic metabolism, but are also signaling molecules involved in plant growth and environmental adaptation. Antioxidants can protect the cell from oxidative damage by scavenging the ROS. Thus, they play an important role in optimizing cell function by regulating cellular redox state and modifying gene expression. This article aims to review recent studies highlighting the role of redox signals in establishing and maintaining symbiosis between rhizobia and legumes.

关键词： Oxidative and photo-oxidative stress cell differentiation/specialization gene regulation symbiosis legume

Compressive Myelopathy, Spinal Shock, and a Complicated Neurological Exam

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Surgical Science 2023年第10期14卷 609-617页

作者： Haroutiun Hamzoian christine Ochoa Lekhraj Patel Kwabena Ayesu Orlando Health Orlando Regional Medical Center Orlando Florida USA

The neurological examination, developed and tested since the 1800s has provided physicians with a vital tool to rapidly assess and provide clues to many of the pathological processes lurking inside the brain and spinal cord. With the advent of magnetic resonance imaging, physicians are able to visualize the precise location of the abscess before surgical intervention. In this case report, we present a 51-year-old male with an epidural abscess with multifocal compressive myelopathy, resulting in a complicated neurological examination, making localization a diagnostic challenge. With this case, we would like to stress that complicated multifocal lesions of the cord may present with a large variation in examination findings. This patient’s neurological exam was complicated secondary to a ventrally as well as dorsally located epidural abscess with superimposed spinal shock sequelae. We would like to highlight the importance of a thorough history and the neurological examination but also mention some of its limitations. It is crucial to use clinical judgement to navigate the patient’s history, presentation, and examination to accurately diagnose and treat, particularly so in cases involving compressive myelopathies of the spinal cord.

关键词： Compressive Myelopathy Spine Spinal Epidural Abscess Spinal Imaging Neurological Examination Neurology Neurosurgery Abscess Neuroimaging

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卢旺达短时强降雨对滑坡的影响研究

卢旺达短时强降雨对滑坡的影响研究

作者： NYIRANSENGIYUMVA christine(林琴音) 兰州交通大学

学位级别：硕士

山体滑坡是山区最常见的地质灾害之一,与地形、降水和地质构造等密切相关。滑坡灾害严重影响区域生态环境和经济社会安全。素以“千丘之国”著称的卢旺达,位居东非大裂谷中段,境内地形崎岖、地质构造复杂活跃、旱季雨季交替明显,短时强... 详细信息

山体滑坡是山区最常见的地质灾害之一,与地形、降水和地质构造等密切相关。滑坡灾害严重影响区域生态环境和经济社会安全。素以“千丘之国”著称的卢旺达,位居东非大裂谷中段,境内地形崎岖、地质构造复杂活跃、旱季雨季交替明显,短时强降雨频率高、强度大。强降雨引起的滑坡灾害,使这个“世界最贫困之一”国家的生态和经济社会系统不堪重负。因此,研究短时强降雨对卢旺达滑坡灾害的影响及其规律,具有重要的理论和实践价值。当前基于XG-Boost、ANN和KNN模型等技术方法针对卢旺达滑坡敏感性的研究较少,难以充分厘清滑坡发生与短时强降雨之间的相关关系及其时空规律。因此,本文运用统计分析了方法分析卢旺达区域地理特征、强降雨、海拔高度、土地利用转型等诱发因素与滑坡之间相关关系,并基于16个滑坡条件因素结合各种机器学习模型评估了卢旺达滑坡敏感性时空格局,旨在为卢旺达滑坡风险预警和滑坡防治提供科学依据。本研究主要结论如下:(1)日最大降雨量与滑坡数量之间存在显著正相关关系(P<0.001)。本文获得的灾害风险图对滑坡敏感区进行了定量评估,并被证明这是一种有效的灾害探测工具。通过评估滑坡发生时间与滑坡前3天、5天、10天、15天和30天持续日降雨量的相关关系,最终确定滑坡前3天持续日降雨量作为滑坡临界降雨值。(2)位于海拔1800-2200m和2200-2800m的中、高山带是滑坡最敏感地带,而海拔低于1500m的低山带滑坡较少,这充分表明滑坡与海拔之间有较强相关性。1990–2020年土地利用类型转变与滑坡发生高度相关(P<0.01),林地、草地向耕地和居民地转变明显,是卢旺达中部和西南部地区从中、高滑坡风险区向极高滑坡风险区转变的主要原因。(3)依据滑坡危险度(低敏感、中敏感、高敏感和极高敏感)四个等级,卢旺达约50.26%的区域处于滑坡低敏感等级,18%的区域处于中等敏感,31%的区域具有高度或极高敏感等级。空间尺度上,西部和南部敏感性最高,中部和北部中等敏感,东部敏感性最低。卢旺达滑坡灾害很大程度上取决于暴雨和地形因素,考虑这些因素可使滑坡灾害预测准确率达85%。暴雨对卢旺达山体滑坡有重大影响,雨季日降水量可高达112 mm。(4)机器学习、数理统计和GIS技术相结合能够有效提高滑坡敏感性建模和预测制图的质量和准确性。XG-Boost、ANN和KNN模型等6种模型精度均很高,变化范围为90%(似然比模型)-98%(朴素贝叶斯模型),随机森林模型和朴素贝叶斯模型的AUC准确率分别为85%和99%。相比而言,朴素贝叶斯模型明显优于其他5个模型,朴素贝叶斯模型预测滑坡敏感性性能最好。综上所述,本研究可用于制定滑坡减灾方案和环境保护措施。定期进行滑坡敏感性调查与及时分享相关信息,对于灾害频发地区非常重要。

关键词：短时强降雨滑坡灾害降雨阈值滑坡敏感性

Effects of mountain pine beetle-killed forests on source water contributions to streamflow in headwater streams of the Colorado Rocky Mountains

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Frontiers of Earth Science 2017年第3期11卷 496-504页

作者： christine E. WEHNER John D. STEDNICK Watershed Science Program College of Natural Resources Colorado State University Fort Collins CO 80523-1472 USA

Natural or human-influenced disturbances are important to the health and diversity of forests, which in turn, are important to the water quantity and quality exported from a catchment. However, human-induced disturbances （prescribed fire and harvesting） have been decreasing, and natural disturbances （fires and insects） have been increasing in frequency and severity. One such natural disturbance is the mountain pine beetle （MPB）, （Denclroctonus ponderosae） an endemic species. A recent epidemic resulted in the mortality of millions of hectares of lodgepole pine （Pinus contorta） forests in Colorado, USA. Beetle-induced tree mortality brings about changes to the hydrologic cycle, including decreased transpiration and interception with the loss of canopy cover. This study examined the effect of the mountain pine beetle kill on source water contributions to streamflow in snowmelt- dominated headwater catchments using stable isotopes （2H and ~80） as tracers. Study catchments with varying level of beetle-killed forest area （6% to 97%） were sampled for groundwater, surface water, and precipitation. Streams were sampled to assess whether beetle-killed forests have altered source water contributions to streamflow. Ground- water contributions increased with increasing beetle-killed forest area （p = 0.008）. Both rain and snow contributions were negatively correlated with beetle-killed forest area （p = 0.035 and p = 0.011, respectively）. As the beetle-killed forest area increases, so does fractional groundwater contribution to streamflow.

关键词： mountain pine beetle isotope tracers stream-flow generation headwaters

The role of retinoic acid in the commitment to meiosis

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Asian Journal of Andrology 2021年第6期23卷 549-554页

作者： Rachel L Gewiss M christine Schleif Michael D Griswold School of Molecular Biosciences and Center for Reproductive Biology Washington State UniversityPullmanWA 99164USA

Male meiosis is a complex process whereby spermatocytes undergo cell division to form haploid *** review focuses on the role of retinoic acid(RA)in meiosis,as well as several processes regulated by RA before cell entry into meiosis that are critical for proper meiotic entry and ***,we discuss RA metabolism in the testis as well as the roles of stimulated by retinoic acid gene 8(STRA8)and MEIOSIN,which are responsive to RA and are critical for *** assert that transcriptional regulation in the spermatogonia is critical for successful meiosis.

关键词： meiosis retinoic acid spermatogenesis testis

Timescales of interface-coupled dissolution-precipitation reactions oncarbonates

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Geoscience Frontiers 2019年第1期10卷 17-27页

作者： Francois Renard Anja Royne christine V.Putnis The Njord Centre Physics of Geological Processes Departments of Geoscience and Physics University of Oslo Univ. Grenoble Alpes Univ. Savoie Mont Blanc CNRS Institut für Mineralogie University of Münster The Institute for Geoscience Research (TIGeR) Department of Chemistry Curtin University

In the Earth's upper crust, where aqueous fluids can circulate freely, most mineral transformations are controlled by the coupling between the dissolution of a mineral that releases chemical species into the fluid and precipitation of new minerals that contain some of the released species in their crystal structure, the coupled process being driven by a reduction of the total free-energy of the system. Such coupled dissolution-precipitation processes occur at the fluid-mineral interface where the chemical gradients are highest and heterogeneous nucleation can be promoted, therefore controlling the growth kinetics of the new minerals. Time-lapse nanoscale imaging using Atomic Force Microscopy(AFM) can monitor the whole coupled process under in situ conditions and allow identifying the time scales involved and the controlling parameters. We have performed a series of experiments on carbonate minerals(calcite, siderite, dolomite and magnesite) where dissolution of the carbonate and precipitation of a new mineral was imaged and followed through time. In the presence of various species in the reacting fluid(e. g. antimony, selenium, arsenic, phosphate), the calcium released during calcite dissolution binds with these species to form new minerals that sequester these hazardous species in the form of a stable solid phase. For siderite, the coupling involves the release of Fe^(2+) ions that subsequently become oxidized and then precipitate in the form of FeIIIoxyhydroxides. For dolomite and magnesite,dissolution in the presence of pure water(undersaturated with any possible phase) results in the immediate precipitation of hydrated Mg-carbonate phases. In all these systems, dissolution and precipitation are coupled and occur directly in a boundary layer at the carbonate surface. Scaling arguments demonstrate that the thickness of this boundary layer is controlled by the rate of carbonate dissolution,the equilibrium concentration of the precipitates and the kinetics of diffus

关键词： Carbonates Atomic force microscopy Dissolution Precipitation Boundary layer Replacement