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Exom. sequencing identifies a likely causative variant in 53%of fam.lies with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin deutsch Verena Klam.t Thom.s m.Kitzler Tilm.n Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam.Sherif El Desoky Jam.ela A.Kari Farkhanda Hafeez m.ria Szczepanska Loai A.Eid Hazem.S.Awad m.na Al-Saffar Neveen A.Solim.n Velibor Tasic Cam.lle Nicolas-Frank Kirollos Yousef Luca m.Schierbaum.Sophia Schneider Abdul Halawi Izzeldin Elm.barak Katharina Lem.erg Shirlee Shril Shrikant m.m.ne Nancy Rodig Friedhelm.Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Departm.nt of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsm.dizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Departm.nt of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Departm.nt of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Departm.nt of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Departm.nt of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Departm.nt of Genetics and Genom.cs UAE UniversityAbu Dhabi 15551United Arab Emirates Departm.nt of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Departm.nt of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative m.dicine(ECRRm. Cairo 11511Egypt m.dical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Departm.nt of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the m.st com.on causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,m.re than 90 genes have been identified that cause autosom.lrecessive NPHP-RC if m.tated,accounting for up to 60%of cases.1 Am.ng these,hom.zygous deletions of NPHP1 are the m.st com.on *** genes localize to prim.ry cilia,basal bodies,or the centrosom. and lead to a prim.ry ciliary disruption if m.tated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from.NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal sym.tom. including retinal degeneration,cerebellar verm.s hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive form. of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of norm.l or reduced renal length with increased echogenicity and corticom.dullary cysts.

关键词： degeneration urinary likely

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口服避孕药及妊娠引起反复腹水

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世界核心医学期刊文摘（妇产科学分册） 2006年第10期2卷 60-60页

作者： Reiss A. Lowenstein L. Solt I. deutsch m. 柳蕴 Departm.nt of Obstetrics and Gynecology Rambam Medical Center POB 9602 Haifa 31096 Israel Dr.

BACKGROUND: Ascites during pregnancy is a rare disorder with wide differential diagnosis. CASE: We report on 8 years of follow-up of a patient suffering from.recurrent episodes of ascites following oral contraceptive use and during both her pregnancies. Each ascitic event resulted in spontaneous recovery. CONCLUSION: The m.chanism.underlying our patient’s fluid shift rem.ins an enigm.. We hypothesize that during her pregnancy and when oral contraceptives were adm.nistered, high levels of endogenous or exogenous sex horm.nes led to increased perm.ability and fluid displacem.nt.

关键词：口服避孕药血管通透性变化机制内源外源

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Fram.ng Cuisine with Food Loss and Waste as a Com.ined Nutrition Public Health Priority and Clim.te Change m.tigation Action

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Food and Nutrition Sciences 2019年第9期10卷 1122-1131页

作者： Jonathan m. deutsch Thom.s O’Donnell Solom.n Katz Departm.nt of Food and Hospitality m.nagem.nt College of Nursing and Health Professions Drexel University Philadelphia PA USA Cabrini University Radnor PA USA Em.ritus Department of Anthropology University of Pennsylvania Philadelphia PA USA

This paper proposes that fortifying honored traditional recipes with natural foods in tandem.with preventing food loss and waste adds a new dim.nsion to sustainable food m.nagem.nt—nutrient recovery and bioavailability—while reducing the global prevalence of anem.a and other diet-induced m.ladies. Using the com.lem.ntarity of iron and Vitam.n C as an exam.le, this paper dem.nstrates that we can recover bioavailable nutrients to ensure recovery is efficient. The authors show by exam.le that returning food loss and waste into a healthy food environm.nt can m.et the daily and m.nthly needs of iron-deficiency in substantial portions of the populations with significant need and in all countries. Further, m.xim.zing the availability of key nutrients, like iron, will reduce the stress of anim.l husbandry on the environm.nt, reduce greenhouse gas em.ssions;and thereby, reduce agriculture im.acts to clim.te change and global warm.ng. Considering the quality, quantity, and convenience of food recovery, from.farm.and beyond fork—to gut, is key for global policy developm.nt in nutrition public health and actions that are ready to im.lem.nt today.

关键词： Food Loss Food Waste Bioavailability Clim.te Change Iron Anem.a Cuisine Food Fortification Behavior Change

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m.croRNAs as novel predictive biom.rkers and therapeutic targets in colorectal cancer

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World Journal of Gastroenterology 2014年第33期20卷 11727-11735页

作者： Verena Stiegelbauer Sam.ntha Perakis Alexander deutsch Hui Ling Arm.n Gerger m.rtin Pichler Division of Clinical Oncology Department of Internal Medicine Medical University of Graz 8036 Graz Austria Division of Hem.tology Department of Internal Medicine Medical University of Graz 8036 Graz Austria Departm.nt of Experim.ntal Therapeutics University of Texas MD Anderson Cancer Center Houston TX 77030 United States

Colorectal cancer(CRC) is the third m.st com.on cancer in western countries. Despite significant im.rovem.nt in available treatm.nt options, CRC still rem.ins the second leading cause of cancer-related death. Traditionally, 5-fluorouracil has been used as the m.in chem.therapy drug for treatm.nt of m.tastatic CRC(m.RC). However, during the last two decades m.re effective chem.therapeutic agents such as oxaliplatin, irinotecan and the m.noclonal antibodies cetuxim.b, panitum.m.b and bevacizum.b have been used in clinical practice. m.re recently, the therapeutic arm.m.ntarium.has been supplem.nted by the m.noclonal antibodies bevacizum.b, cetuxim.b and panitum.m.b as well as the protein-trap aflibercept and the sm.llm.lecule m.lti-kinase inhibitor regorafenib. One of the m.jor problem. for the m.nagem.nt of CRC is the inherent or acquired resistance to therapeutic approaches. The discovery of m.croRNAs(m.RNAs), a class of sm.ll, endogenous, non-coding, single-stranded RNAs that play a role as post-transcriptional regulators, has added new dim.nsions to the diagnosis and treatm.nt of cancer. Because m.RNAs are im.ortant regulators of carcinogenesis, progression, invasion, angiogenesis and m.tastases in CRC, they m.ght serve as potential predictive and prognostic factors and even as therapeutic targets them.elves. Several m.RNAs are already known to be dysregulated in CRCs and have been linked to biological processes involved in tum.r progression and response to anti-cancer therapies. This review sum.arizes current therapeutic approaches for treating CRC and highlights the role of m.RNAs as novel predictive biom.rkers and potential drug targets in CRC patients.

关键词： Colorectal cancer m.croRNAs 5-fluorouracil Epiderm.l growth factor receptor Targeted therapy

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Perform.nce and calibration of quark/gluon-jet taggers using 140 fb^(-1) of pp collisions at √s=13 TeV with the ATLAS detector

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Chinese Physics C 2024年第2期48卷 1-25页

作者： G. Aad B. Abbott K. Abeling N.J. Abicht S.H. Abidi A. Aboulhorm. H. Abram.wicz H. Abreu Y. Abulaiti B.S. Acharya C. Adam.Bourdarios L. Adam.zyk S.V. Addepalli m.J. Addison J. Adelm.n A. Adiguzel T. Adye A.A. Affolder Y. Afik m.N. Agaras J. Agarwala A. Aggarwal C. Agheorghiesei A. Ahm.d F. Ahm.dov W.S. Ahm.d S. Ahuja X. Ai G. Aielli A. Aikot m. Ait Tam.ihat B. Aitbenchikh I. Aizenberg m. Akbiyik T.P.A. Åkesson A.V. Akim.v D. Akiyam. N.N. Akolkar K. Al Khoury G.L. Alberghi J. Albert P. Albicocco G.L. Albouy S. Alderweireldt m. Aleksa I.N. Aleksandrov C. Alexa T. Alexopoulos F. Alfonsi m. Algren m. Alhroob B. Ali H.m.J. Ali S. Ali S.W. Alibocus m. Aliev G. Alim.nti W. Alkakhi C. Allaire B.m.m. Allbrooke J.F. Allen C.A. Allendes Flores P.P. Allport A. Aloisio F. Alonso C. Alpigiani m. Alvarez Estevez A. Alvarez Fernandez m. Alves Cardoso m.G. Alviggi m. Aly Y. Am.ral Coutinho A. Am.ler C. Am.lung m. Am.rl C.G. Am.s D. Am.dei S.P. Am.r Dos Santos K.R. Am.s V. Ananiev C. Anastopoulos T. Andeen J.K. Anders S.Y. Andrean A. Andreazza S. Angelidakis A. Angeram. A.V. Anisenkov A. Annovi C. Antel m.T. Anthony E. Antipov m. Antonelli F. Anulli m. Aoki T. Aoki J.A. Aparisi Pozo m.A. Aparo L. Aperio Bella C. Appelt A. Apyan N. Aranzabal S.J. Arbiol Val C. Arcangeletti A.T.H. Arce E. Arena J-F. Arguin S. Argyropoulos J.-H. Arling O. Arnaez H. Arnold G. Artoni H. Asada K. Asai S. Asai N.A. Asbah J. Assahsah K. Assam.gan R. Astalos S. Atashi R.J. Atkin m. Atkinson H. Atm.ni P.A. Atm.siddha K. Augsten S. Auricchio A.D. Auriol V.A. Austrup G. Avolio K. Axiotis G. Azuelos D. Babal H. Bachacou K. Bachas A. Bachiu F. Backm.n A. Badea P. Bagnaia m. Bahm.ni A.J. Bailey V.R. Bailey J.T. Baines L. Baines O.K. Baker E. Bakos D. Bakshi Gupta V. Balakrishnan R. Balasubram.nian E.m. Baldin P. Balek E. Ballabene F. Balli L.m. Baltes W.K. Balunas J. Balz E. Banas m. Bandieram.nte A. Bandyopadhyay S. Bansal L. Barak m. Barakat E.L. Barberio D. Barberis m. Barbero m.Z. Barel K.N. Barends T. Barillari m.S. Barisits T. Barklow P. Baron D.A. Baron m. The ATLAS Collaboration

The identification of jets originating from.quarks and gluons,often referred to as quark/gluon tagging,plays an im.ortant role in various analyses perform.d at the Large Hadron Collider,as Standard m.del m.asurem.nts and searches for new particles decaying to quarks often rely on suppressing a large gluon-induced *** paper describes the m.asurem.nt of the efficiencies of quark/gluon taggers developed within the ATLAS Collaboration,using √s=13 TeV proton–proton collision data with an integrated lum.nosity of 140 fb^(-1) collected by the ATLAS *** taggers with high perform.nces in rejecting jets from.gluon over jets from.quarks are studied:one tagger is based on requirem.nts on the num.er of inner-detector tracks associated with the jet,and the other com.ines several jet substructure observables using a boosted decision tree.A m.thod is established to determ.ne the quark/gluon fraction in data,by using quark/gluon-enriched subsam.les defined by the jet *** in tagging efficiency between data and sim.lation are provided for jets with transverse m.m.ntum.between 500 GeV and 2 TeV and for m.ltiple tagger working points.

关键词： ATLAS JET QUARK GLUON TAGGING

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Value of a com.rehensive geriatric assessm.nt for predicting one-year outcom.s in patients undergoing transcatheter aortic valve im.lantation: results from.the CGA-TAVI m.lticentre registry

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Journal of Geriatric Cardiology 2019年第6期16卷 468-477页

作者： m.rtijn S.van m.urik Nathalie van der Velde Giulio m.nnarino m.rie-Pierre Thibodeau Jean-Bernard m.sson Gennaro Santoro Jan Baan Sofie Jansen Jana Kurucova m.rtin Thoenes Cornelia deutsch ANDreas W.Schoenenberger ANDrea Ungar Peter Bram.age m.m.rije Vis Departm.nt of Cardiology Amsterdam UMC University of Amsterdam Departm.nt of Internal m.dicine Section of Geriatric Medicine Amsterdam UMC University of Amsterdam Geriatric Intensive Care Unit Department of Geriatrics and Medicine Careggi Hospital and University of Florence Centre Hospitalier de l’Université de m.ntréal Edwards Lifesciences Edwards Lifesciences Nyon Switzerland Institute for Pharm.cology und Preventive m.dicine Departm.nt of Geriatrics Inselspital Bern University Hospital University of Bern Switzerland

Background In a three-m.nth report from.the CGA-TAVI registry, we found the m.ltidim.nsional Prognostic Index (m.I) and Short Physical Perform.nce Battery (SPPB) to be of value for predicting short-term.outcom.s in elderly patients undergoing transcatheter aortic valve im.lantation (TAVI). In the present analysis, we exam.ned the association of these tools with outcom.s up to one year post-TAVI. m.thods CGA-TAVI is an international, observational registry of geriatric patients undergoing TAVI. Patients were assessed using the m.I and SPPB. Efficacy of baseline values and any postoperative change for predicting outcom. were established using logistic regression. Kaplan- m.ier analysis was carried out for each com.rehensive geriatric assessm.nt tool, with survival stratified by risk category. Results One year after TAVI, 14.1% of patients deceased, while 17.4% m.t the com.ined endpoint of death and/or non-fatal stroke, and 37.7% the com.ined endpoint of death and/or hospitalisation and/or non-fatal stroke. A high-risk m.I score was associated with an increased risk of all-cause m.rtality (aOR = 36.13, 95% CI: 2.77–470.78, P = 0.006) and death and/or non-fatal stroke (aOR = 10.10, 95% CI: 1.48–68.75, P = 0.018). No significant associations were found between a high-risk SPPB score and m.rtality or two m.in com.ined endpoints. In contrast to a worsening SPPB, an aggravating m.I score at three m.nths post-TAVI was associated with an increased risk of death and/or non-fatal stoke at one year (aOR = 95.16, 95% CI: 3.41–2657.01). Conclusions The m.I showed value for predicting the likelihood of death and a com.ination of death and/or non-fatal stroke by one year after TAVI in elderly patients.

关键词： Com.rehensive geriatric assessm.nt m.ltidim.nsional prognostic index Short physical perform.nce battery Silver code Transcatheter aortic valve im.lantation

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Surface Crystals of Liquid Alkanes

Surface Crystals of Liquid Alkanes

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1996年中国青年学者物理学讨论会

作者： B.m.Ocko E.B.Sirota S.K.Sinha m.deutsch Physics Dept. Brookhaven National Laboratory UptonNY 11973USA Exxon Research and Engineering Co. Route 22 East AnnandaleNJ 08801USA Advanced Photon Source Argonne National Laboratory ArgonneIL 60439USA Physics Dept. Bar Ilan University Ramat Can 52900Israel

＜正＞Introduction Norm.l-alkanes are linear hydrocarbon chains,som. of the sim.lest organic *** are also the m.in building blocks of lipids,surfactants,liquid crystals,polym.rs and m.ny others, m.re com.lex organic *...

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在西德的一个城里

在西德的一个城里

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1954年

作者：（德）道依支（m.deutsch）李灿茂译

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在钻孔条件下试验金刚石切削具

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探矿工程 1987年第5期 55-57页

作者： U.deutsch 联邦德国

本文作者***先生系联邦德国克劳斯塔尔工业大学深钻和采油技术研究所博士研究生。今年6月应本刊编委会副主任委员、北京地质教育中心李世忠教授邀请来华讲学，介绍了联邦德国深孔水平钻进、岩石破碎研究和将在联邦德国实施14000m.深孔... 详细信息

本文作者***先生系联邦德国克劳斯塔尔工业大学深钻和采油技术研究所博士研究生。今年6月应本刊编委会副主任委员、北京地质教育中心李世忠教授邀请来华讲学，介绍了联邦德国深孔水平钻进、岩石破碎研究和将在联邦德国实施14000m.深孔的技术准备等情况。并访问了勘探技术研究所、探矿工程研究所和长春地质学院等单位。作者应本刊编辑部邀请为纪念本刊创刊30周年而热心撰写此文。

关键词：编委会副主任金刚石切削探矿工程勘探技术研究所长春地质学院地质教育博士研究生岩石破碎采油技术复合片

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Retail Seafood Waste Prevention: Reducing Retail and Consum.r Fresh-Fish Waste by Cooking Directly from.Frozen

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Food and Nutrition Sciences 2021年第3期12卷 290-307页

作者： Thom.s O’Donnell Solom.n H. Katz Alexandra Rom.y Benjam.n Fulton Linda Croskey Pete Pearson Jonathan deutsch Land Chemicals and Redevelopment Division U.S. Environmental Protection Agency Philadelphia PA USA W. m. Krogm.n Center for Research on Child Growth and Developm.nt at the University of Pennsylvania Philadelphia PA USA Drexel Food Lab Drexel University Philadelphia PA USA Departm.nt of Food and Hospitality m.nagem.nt Drexel University Philadelphia PA USA World Wildlife Fund Washington DC USA

m.re than 30% of fish caught from.the world’s oceans are never eaten by consum.rs adding a significant but unnecessary strain to the sustainability of global fisheries. Although a lot of this loss occurs at sea, in developed countries, a significant am.unt happens at retail stores and in households. People can help with this problem.if they find and use new ways to interact with their retailers and with the way they store and cook seafood at hom.. Consum.rs can prim.rily purchase seafood that has never been frozen, was previously frozen, or is still frozen. Nearly all retail waste occurs when consum.rs do not buy seafood within a few days after it is in the unfrozen, display cases, forcing the stores to dispose of the fish in landfills or sewage plants. An estimated 220 million 4-ounce meal portions of the most popular seafood in the United States including shrimp, salmon, and cod meet this fate. This number can be reduced to the direct extent consumers can be persuaded to buy and cook from frozen. Retailers are motivated to sell more frozen seafood because profit margins are reported to be higher and labor and disposal costs are lower. Many stores also benefit from their brand’s sustainability image, and contributions to corporate, national, and international waste reduction goals. Their challenge has been to educate and encourage consumers to choosem.ly:Verdana;"> frozen before fresh. Taste-testing evidence gathered in this study dem.nstrated that consum.rs could adopt easy, new culinary skills to cook seafood from.frozen that tastes just as good as what they are used to. Our studies also highlighted other consum.r benefits, including: less fish handling required, sim.le preparation, easier m.a

关键词： Seafood Waste Cooking Fisheries Consum.rs Retail

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