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Characterisation of Na-metasomatism in the Sveconorwegian Bamble Sector of South Norway

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Geoscience Frontiers 2014年第5期5卷 659-672页

作者： Ane K.Engvika Peter M.Ihlena hakon Austrheimb Geological Survey of Norway.P.O.Box 6315 Sluppen.N-7491 TrondheimNorway Department of Geosciences.University of Oslo P.O.Box 1047 BlindernN-0316 OsloNorway

Na-metasomatism in the form of albitisation is regionally extensive in the Precambrian crust of southern Scandinavia and is particularly widespread in the Bamble Sector, the Kongsberg-Modum Sector and the Norwegian part of the Mylonite Zone. Sites of albitisation outside these belts are associated with hy- drothermal breccia pipes and fracture-bound alteration. The albitites are composed of near end-member sodic plagioclase （Ano 5Ab94-99） with minor carbonate （calcite and dolomite）, rutile, clinopyroxene （En30Fs21-23W047 49）, amphibole （edenite-pargasite）, quartz, titanite, tourmaline, epidote （Fe3＋ - 0.20 -0.85 a.p.f.u） and chlorite （Mg# = 0.81-0.89）. The albitites have been studied in detail in the region around the town of Kragem, and are described as albitisation along veins, as breccias, alhitic felsites, massive carbonate-bearing albitites and megascale clinopyroxene-titanite-bearing albitite. The strong fluid control on their formation is illustrated by the veining and mineral replacement reactions, showing fluid transport by a H20-CO2 fluid rich in Na, depleting Fe and Mg from the host rock, in accordance with calculated mass transfer. A study of the mineralogical replacement reactions in combination with a regional compilation has demonstrated the relationship between metasomatic processes and the for- mation of apatite, ruti｜e and Fe deposits. The albitites occur spatially associated with other metasomatic rocks such as scapolitised metagabbros. We document that metasomatism is an important mineral- and rock-forming process in the continental crust, which in the Bamble Sector is a part of the tectonome- tamorphic evolution of the Sveconorwegian orogen.

关键词： AlbititeMetasomatismBamble SectorFluidsSveconorwegianSouth Norway

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Impact of exome sequencing in inflammatory bowel disease

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World Journal of Gastroenterology 2013年第40期19卷 6721-6729页

作者： Christopher J Cardinale Judith R Kelsen Robert N Baldassano hakon hakonarson Center for Applied Genomics Children’s Hospital of PhiladelphiaAbramson Research Center Suite 1216PhiladelphiaPA 19104United States Division of Gastroenterology Hepatologyand NutritionDepartment of PediatricsChildren’s Hospital of PhiladelphiaPerelman School of Medicine at the University of PennsylvaniaPhiladelphiaPA 19104United States

Approaches to understanding the genetic contribution to inflammatory bowel disease(IBD)have continuously evolved from family-and population-based epidemiology,to linkage analysis,and most recently,to genome-wide association studies(GWAS).The next stage in this evolution seems to be the sequencing of the exome,that is,the regions of the human genome which encode *** GWAS approach has been very fruitful in identifying at least 163 loci as being associated with IBD,and now,exome sequencing promises to take our genetic understanding to the next *** this review we will discuss the possible contributions that can be made by an exome sequencing approach both at the individual patient level to aid with disease diagnosis and future therapies,as well as in advancing knowledge of the pathogenesis of IBD.

关键词： Sequencing Exome Genetics Inflammatory bowel disease

Application of computational methods in genetic study ofinflammatory bowel disease

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World Journal of Gastroenterology 2016年第3期22卷 949-960页

作者： Jin Li Zhi Wei hakon hakonarson Center for Applied Genomics Abramson Research CenterChildren’s Hospital of PhiladelphiaPhiladelphiaPA 19104United States Department of Computer Science New Jersey Institute of TechnologyNewarkNJ 07102United States Division of Human Genetics Children’s Hospital of PhiladelphiaPhiladelphiaPA 19104United States Department of Pediatrics The Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaPA 19104United States

Genetic factors play an important role in the etiology of inflammatory bowel disease(IBD). The launch of genome-wide association study(GWAS) represents a landmark in the genetic study of human complex disease. Concurrently, computational methods have undergone rapid development during the past a few years, which led to the identification of numerous disease susceptibility loci. IBD is one of the successful examples of GWAS and related analyses. A total of 163 genetic loci and multiple signaling pathways have been identified to be associated with IBD. Pleiotropic effects were found for many of these loci; and risk prediction models were built based on a broad spectrum of genetic variants. Important gene-gene, gene-environment interactions and key contributions of gut microbiome are being discovered. Here we will review the different types of analyses that have been applied to IBD genetic study, discuss the computational methods for each type of analysis, and summarize the discoveries made in IBD research with the application of these methods.

关键词： Inflammatory bowel disease Computationalmethods Genome-wide association study Pathwayanalysis Gene-gene interaction Gene-environmentinteraction Pleiotropy Risk prediction

Exploring the subjective burden of confidentiality among physicians in Norway

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Health 2011年第3期3卷 179-185页

作者： Løvseth Lise Tevik Leiulfsrud hakon Department of Research and Development St Olavs University HospitalTrondheim and Institute of NeuroscienceNorwegian University of Science and TechnologyTrondheimNorway Department of Sociology and Political Science Norwegian University of Science and TechnologyTrondheimNorway

Background: Concern about protecting patient privacy is proposed to be a barrier for physic- cians to talk about emotional distress from their professional experiences. This makes it difficult for many physicians to utilize and fully benefit from different network of social support. The subjective burden of confidentiality is reported to be associated with physician’s health and wellbeing. Aims: To gain knowledge about fac- tors in the in personal and professional sphere that can be associated with the subjective bur- den of confidentiality. Methods: Qualitative semi- structured interviews with 14 general practi- tioners and hospital physicians in Norway. Ex- amination of transcribed verbatim interviews using qualitative content analysis. Results: The subjective burden of confidentiality is likely linked with factors such as perception of pro- fessional role, social support from colleagues, partners and friends;size of patient population, organizational factors and work environment, and the overlap between personal and profess- sional relationships. Conclusions: Addressing the interaction of emotional demands and pa- tient confidentiality is important to study suc- cessful coping with distress from physician’s professional experiences.

关键词： Professional secrecy doctors ethics work stress social support work environment

Buried Hydrothermal Systems:The Potential Role of Supercritical Water,“ScriW”,in Various Geological Processes and Occurrences in the Sub-Surface

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American Journal of Analytical Chemistry 2014年第2期5卷 128-139页

作者： Martin Hovland hakon Rueslatten Hans Konrad Johnsen Ambio Tech Team StavangerNorway Lithicon TrondheimNorway Det Norske Oljeselskap ASA TrondheimNorway

It is well known that seawater that migrates deep into the Earth’s crust will pass into its supercritical domain at temperatures above 407°C and pressures above 298 bars. In the oceanic crust, these pressures are attained at depths of 3 km below sea surface, and sufficiently high temperatures are found near intruding magmas, which have temperatures in the range of 800°C to 1200°C. The physico-chemical behaviour of seawater changes dramatically when passing into the supercritical domain. A supercritical water vapour (ScriW) is formed with a density of 0.3 g/cc and a strongly reduced dipolar character. This change in polarity is causing the ScriW to lose its solubility of the common sea salts (chlorides and sulphates) and a spontaneous precipitation of sea salts takes place in the pore system. However, this is only one of many cases where the very special properties of ScriW affect its surroundings. The objective of this paper is to increase awareness of the many geological processes that are initiated and governed by ScriW. This includes interactions between ScriW and its geological surroundings to initiate and drive processes that are of major importance to the dynamics and livelihood of our planet. ScriW is the driver of volcanism associated with subduction zones, as ScriW deriving from the subduction slab is interacting with the mantle rocks and reducing their melting point. ScriW is also initiating serpentinization processes where olivines in the mantle rocks (e.g. peridotite) are transformed to serpentine minerals upon the uptake of OH-groups from hydrolysed water. The simultaneous oxidation of Fe2+ dissolved from iron-bearing pyroxenes and olivines leads to the formation of magnetite and hydrogen, and consequently, to a very reducing environment. ScriW may also be the potential starter and driver of the poorly understood mud and asphalt volcanism;both submarine and terrestrial. Furthermore, the lack of polarity of the water molecules in ScriW gives the ScriW va

关键词： Supercritical Seawater Hydrothermal Salt Model Rifting Sediment Basins Salt Precipitation from Supercritical Seawater Petroleum Migration Volcanism Mud Volcanoes

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儿童和青少年糖尿病的精准医学研究进展

中华糖尿病杂志 2019年第4期11卷 234-237页

作者：屈会起田立峰 hakon hakonarson Center for Applied Genomics The Children′s Hospital of Philadelphia美国宾夕法尼亚州费城19104

儿童和青少年糖尿病患病率在全球呈逐年上涨趋势。由于发病年龄早、病程较成人糖尿病严重,易致肾功能衰竭、失明和截肢等糖尿病并发症,儿童和青少年发病的糖尿病应得到更多的关注。儿童和青少年糖尿病主要有三种类型:1型糖尿病(T1DM)、... 详细信息

儿童和青少年糖尿病患病率在全球呈逐年上涨趋势。由于发病年龄早、病程较成人糖尿病严重,易致肾功能衰竭、失明和截肢等糖尿病并发症,儿童和青少年发病的糖尿病应得到更多的关注。儿童和青少年糖尿病主要有三种类型:1型糖尿病(T1DM)、2型糖尿病(T2DM)和单基因突变糖尿病。对三种类型糖尿病的准确分型是临床诊疗的基础,而当前临床常见问题是,临床资料不足以对这三种类型糖尿病在儿童和青少年中进行鉴别诊断。未成年、无肥胖的糖尿病患者常常被诊断为T1DM,其中有些患者实为T2DM或单基因突变糖尿病。由于T1DM在中国儿童和青少年中远低于高加索人群,误诊问题可能更为严重,基于基因检测的精准医学途径为解决这一难题提供了办法。

关键词：青少年糖尿病中国儿童医学研究单基因突变糖尿病患病率糖尿病并发症 T1DM 发病年龄

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糖尿病精准医学的现状与展望

中华医学杂志 2019年第16期99卷 1274-1277页

作者：屈会起田立峰 hakonarson hakon 费城儿童医院实用基因组中心美国费城19104

精准医学是综合考虑每个人的基因、环境和生活方式的一种新的疾病治疗和预防理念,发展精准医学的背景是人类基因组学研究的迅猛发展。近年来遗传学和人类基因组学研究进展极大地促进了各种类型糖尿病的精准诊断和精准治疗。发展糖尿病... 详细信息

精准医学是综合考虑每个人的基因、环境和生活方式的一种新的疾病治疗和预防理念,发展精准医学的背景是人类基因组学研究的迅猛发展。近年来遗传学和人类基因组学研究进展极大地促进了各种类型糖尿病的精准诊断和精准治疗。发展糖尿病精准医学要基于现有的循证医学标准,并努力应用医学大数据进行改进。本文就这一重要主题进行了综述。

关键词：糖尿病精准医学

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单基因遗传性高血压:一类可“治愈”的高血压

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Science Bulletin 2023年第7期68卷 657-660页

作者：卢伊婷范鹏 hakon hakonarson 胡爱华刘亚欣周宪梁 Department of Cardiology Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China Center for Applied Genomics Children’s Hospital of Philadelphia and the Division of Human GeneticsDepartment of PediatricsPerelman School of MedicineUniversity of PennsylvaniaPhiladelphia 19104USA Department of Non-Communicable Disease Management Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China Emergency and Critical Care Center Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China

Hypertension is a global problem that affects more than 1 billion people worldwide with the increased prevalence year by year[1,2].It contributes to major impacts on health including morbidity and all-cause mortality,as well as consumption of substantial health care *** the complex pathophysiology and risk factors involved in the development of elevated blood pressure can help treat the disease to better prevent life-threatening conditions and alleviate the socio-economic *** hereditary nature of hypertension relies on that up to 30%of blood pressure variation is due to genetics and an individual’s genetic predisposition to hypertensive disease ranges from 15%to 35%[3].

关键词： elevated hypertensive mortality

Real-world evidence on first-and second-line palliative chemotherapy in advanced pancreatic cancer

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World Journal of Clinical Oncology 2021年第9期12卷 787-799页

作者： hakon Blomstrand Atul Batra Winson Y Cheung Nils Oskar Elander Department of Biomedical and Clinical Sciences Linköping UniversityLinköping 58185Sweden Department of Medical Oncology All India Institute of Medical SciencesNew Delhi 110029India Department of Oncology University of CalgaryCalgary T2N 4N1Canada

In spite of recent diagnostic and therapeutic advances,the prognosis of pancreatic ductal adenocarcinoma(PDAC)remains very *** most patients are not amenable to curative intent treatments,optimized palliative management is highly *** key question is to what extent promising results produced by randomized controlled trials(RCTs)correspond to clinically meaningful outcomes in patients treated outside the strict frames of a clinical *** answer such questions,real-world evidence is *** present paper reviews and discusses the current literature on first-and second-line palliative chemotherapy in ***,a growing number of studies report that the outcomes of the two predominant first-line multidrug regimens,*** plus nabpaclitaxel(GnP)and folfirinox(FFX),is similar in RCTs and real-life *** of second-line therapy following failure of first-line regimens are still dismal,and considerable uncertainty of the optimal management *** RCTs and real-world evidence studies focusing on the optimal treatment sequence,such as FFX followed by GnP or vice versa,are urgently ***,the review highlights the need for prognostic and predictive biomarkers to inform clinical decision making and enable personalized management in advanced PDAC.

关键词： Pancreatic cancer Palliative therapy Cancer chemotherapy Gemcitabine Paclitaxel,nano albumin-bound Folfirinox