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Exome sequencing identifies a likely causative variant in 53%of families 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 Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic camille.nicolas-frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department 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 Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common 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,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,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 symptoms including retinal degeneration,cerebellar vermis 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 forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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Australasian microtektites across the Antarctic continent: Evidence from the Sør Rondane Mountain range (East Antarctica)

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Geoscience Frontiers 2021年第4期12卷 202-214页

作者： Bastien Soens Matthias van Ginneken Stepan Chernonozhkin nicolas Slotte Vinciane Debaille frank Vanhaecke Herman Terryn Philippe Claeys Steven Goderis Analytical Environmentaland Geo-ChemistryVrije Universiteit BrusselPleinlaan 2BE-1050 BrusselsBelgium Laboratoire G-Time UniversitéLibre de Bruxelles 50Av.F.D.Roosevelt CP 160/02BE-1050 BrusselsBelgium Centre for Astrophysics and Planetary Science University of KentCT27NZCanterburyKentUnited Kingdom Atomic&Mass Spectrometry–A&MS Research Unit Department of ChemistryGhent UniversityCampus SterreKrijgslaan 281–S12BE-9000 GhentBelgium Electrochemical and Surface Engineering Vrije Universiteit BrusselPleinlaan 2BE-1050 BrusselsBelgium

The~790 ka Australasian(micro)tektite strewn field is one of the most recent and best-known examples of impact ejecta emplacement as the result of a large-scale cratering event across a considerable part of Earth's surface(>10%in area).The Australasian strewn field is characterized by a tri-lobe pattern consisting of a large central distribution lobe,and two smaller side lobes extending to the west and ***,we report on the discovery of microtektite-like particles in sedimentary traps,containing abundant micrometeorite material,in the Sør Rondane Mountain(SRM)range of East *** thirty-three glassy particles display a characteristic pale yellowcolor and are predominantly spherical in shape,except for a single dumbbell-shaped *** vitreous spherules range in size from220 to 570μm,with an average diameter of~370μ*** compares relatively well with the size distribution(75–778μm)of Australasian microtektites previously recovered from the TransantarcticMountains(TAM)and located ca.2500–3000 km fromthe *** addition,the chemical composition of the SRM particles exhibits limited variation and is nearly identical to the‘normal-type’(i.e.,<6%MgO)TAM *** Sr and Nd isotope systematics for a single batch of SRM particles(n=26)strongly support their affiliation with TAMmicrotektites and the Australasian tektite strewn field in ***,Sr isotope ratios and Nd model ages suggest that the target material of the SRM particles was composed of a plagioclase-or carbonate-rich lithology derived from a Paleo-or Mesoproterozoic crustal *** affiliation to the Australasian strewn field requires long-range transportation,with estimated great circle distances of ca.11,600 km from the hypothetical source crater,provided transportation occurred along the central distribution *** is in agreement with the observations made for the Australasian microtektites recovered from Victoria Land(ca.11,000 km)and Larkman Nunatak(ca.12,000 km),w

关键词： Impact cratering Impact ejecta Target stratigraphy Volatilization Antarctica Microtektites

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Crystallographic Study of Uranium-Thorium Bearing Minerals in Tranomaro,South-East Madagascar

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Journal of Minerals and Materials Characterization and Engineering 2013年第6期1卷 347-352页

作者： frank Elliot Sahoa Naivo Rabesiranana Raoelina Andriambololona nicolas Finck Christian Marquardt Hörst Geckeis Institut National des Sciences et Techniques Nucléaires(Madagascar-INSTN) AntananarivoMadagascar Institute of Nuclear Waste and Disposal(INE) Karlsruhe Institute of Technology(KIT)KarlsruheGermany

Studies are undertaken to characterize the uranium and thorium minerals of south-east Madagascar. Seven selected uranothorianite bearing pyroxenites samples from old abandoned uranium quarries in Tranomaro, south Amboasary, Madagascar (46°28'00"E, 24°36'00"S) have been collected. To determine the mineral micro-structure, they were investigated for qualitative identification of crystalline compounds by using X-ray powder diffraction analytical method (XRD). Results showed that the uranium and thorium compounds, as minor elements, were present in various crystalline structures. Thorium, as thorianite, is present in a simple ThO2 cubic crystalline system, whereas the uranium component of the Tranomaro uranothorianite samples is oxide-based and is a mixture of complex oxidation states and crys-talline systems. Generally called uraninite, its oxide compounds are present in more than eight phases.

关键词： Tranomaro Madagascar Uranothorianite Crystallography XRD

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A DL-4- and TNFα-based culture system to generate high numbers of nonmodified or genetically modified immunotherapeutic human T-lymphoid progenitors

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Cellular & Molecular Immunology 2021年第7期18卷 1662-1676页

作者： Ranjita Devi Moirangthem Kuiying Ma Sabrina Lizot Anne Cordesse Juliette Olivré Corinne de Chappedelaine Akshay Joshi Agata Cieslak John Tchen nicolas Cagnard Vahid Asnafi Antonio Rausell Laura Simons Julien Zuber Tom Taghon frank J.T.Staal Françoise Pflumio Emmanuelle Six Marina Cavazzana Chantal Lagresle-Peyrou Tayebeh Soheili Isabelle André Universitéde Paris Imagine InstituteLaboratory of Human LymphohematopoiesisINSERM UMR 1163ParisFrance Laboratory of Onco-Hematology AP-HPHôpital Necker-Enfants Malades.ParisFrance Universitéde Paris Institut Necker-Enfants Malades(INEM)INSERM UMR 1151ParisFrance Plateforme Bio-informatique UniversitéParis DescartesStructure Fédérative de Recherche NeckerINSERM US24/CNRS UMS 3633ParisFrance Universitéde Paris Imagine InstituteLaboratory of Clinical BioinformaticsINSERM UMR 1163ParisFrance Department of Biotherapy Clinical Investigation Center AP-HPHôpital Necker-Enfants MaladesParisFrance Department of Adult Kidney Transplantation AP-HPHôpital NeckerParisFrance Cancer Research Institute Ghent(CRIG) GhentBelgium Department of Diagnostic Sciences Faculty of Medicine and Health SciencesGhent UniversityGhentBelgium Department of Immunohematology&Blood Transfusion Leiden University Medical CenterLeidenthe Netherlands Team Niche and Cancer in Hematopoiesis Universitéde Paris and UniversitéParis-SaclayINSERMiRCM/IBFJ CEAUMR StabilitéGénétique Cellules Souches et RadiationsFontenay-aux-RosesFrance

Several obstacles to the production,expansion and genetic modification of immunotherapeutic T cells in vitro have restricted the widespread use of T-cell *** the context of HSCT,delayed naïve T-cell recovery contributes to poor outcomes.A novel approach to overcome the major limitations of both T-cell immunotherapy and HSCT would be to transplant human T-lymphoid progenitors(HTLPs),allowing reconstitution of a fully functional naïve T-cell pool in the patient ***,it is challenging to produce HTLPs in the high numbers required to meet clinical ***,we found that adding tumor necrosis factor alpha(TNFα)to a DL-4-based culture system led to the generation of a large number of nonmodified or genetically modified HTLPs possessing highly efficient in vitro and in vivo T-cell potential from either CB HSPCs or mPB HSPCs through accelerated T-cell differentiation and enhanced HTLP cell cycling and *** study provides a clinically suitable cell culture platform to generate high numbers of clinically potent nonmodified or genetically modified HTLPs for accelerating immune recovery after HSCT and for T-cell-based immunotherapy(including CAR T-cell therapy).

关键词： Human T-lymphoid progenitor Tumor necrosis factor alpha Delta-like ligand 4 Hematopoietic stem and progenitor cells Mobilized peripheral blood

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坐在沙发上置身魔法屋

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设计家 2009年第2期 90-95页

作者： frank Tjepkema Janneke Hooymans Leonie Janssen Tina Stieger Bertrand Gravier camille Cortet TJEP Premsela设计基金管理委员会德国艺术与设计基金会

Vilasofa是阿姆斯特丹新开的一家家具店,由TJEP来负责它们的店铺设计。荷兰设计师惯于挑战传统,这一点在TJEP那里得到了更充分的体现。TJEP取自该工作室主持人frank Tjepkema姓氏中的前四个字母,他们的设计包括马克西玛(Maxina)王妃的... 详细信息

Vilasofa是阿姆斯特丹新开的一家家具店,由TJEP来负责它们的店铺设计。荷兰设计师惯于挑战传统,这一点在TJEP那里得到了更充分的体现。TJEP取自该工作室主持人frank Tjepkema姓氏中的前四个字母,他们的设计包括马克西玛(Maxina)王妃的皇冠头饰、著名的"鸟巢"沙发,"Do Break"花瓶,香槟口味的爆米花,"Bling Bling"首饰以及很多独具特色的室内空间设计等。

关键词：魔法沙发设计师仓库销售种概念颜色设计家居元素室内空间设计

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冷光传感器监测电厂水汽系统溶解氧的研究

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电力设备 2007年第9期8卷 81-83页

作者： frank A. Dunand nicolas Ledermann Serge Hediger Hach Ultra Analytics SA Switzerland

与电化学传感器相比，基于冷光技术的新型溶解氧传感器对水样的流动状态要求也不高，运行维护的工作量也大大降低。本研究采用新型溶解氧冷光传感器对ppb级的痕量溶解氧进行了精确测定，结果表明，采用冷光技术的新型溶解氧传感器对电... 详细信息

与电化学传感器相比，基于冷光技术的新型溶解氧传感器对水样的流动状态要求也不高，运行维护的工作量也大大降低。本研究采用新型溶解氧冷光传感器对ppb级的痕量溶解氧进行了精确测定，结果表明，采用冷光技术的新型溶解氧传感器对电厂锅炉给水全挥发处理和加氧处理系统中溶解氧的测定不仅快速、准确，而且维护费用较传统电化学传感器低。

关键词：冷光技术冷光传感器溶解氧电厂化学

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Praq餐厅

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中国建筑装饰装修 2011年第2期 64-69页

作者： frank Tjepkema Janneke Hooymans Tina Stieger Leonie Janssen Bertrand Gravier camille Cortet Tjep.事务所

精选理由餐厅的环境和服务会影响顾客对餐厅的整体评价。所以富有创意的环境设计会有耳目一新的感觉,让进入餐厅的孩子和父母在独特的环境中得到一种舒适、

关键词：餐厅环境设计舒适

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傅里叶谱和反应谱之间的关系及其对经验地震动预测方程(GMPE)调整的影响研究(Ⅰ)

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国际地震动态 2017年第3期38卷 25-32页

作者： Sanjay Singh Bora frank Scherbaum nicolas Kuehn Peter Stafford

经验反应谱地震动预测方程(GMPEs)的函数形式通常由地震动傅里叶谱模拟的概念导出,随后这些GMPEs由经验观测数据校准,所以,对特定地震场景的地震动预测不会构成重大问题。然而,当调整反应谱GMPEs来计算未被原始经验数据集覆盖的条件时,... 详细信息

经验反应谱地震动预测方程(GMPEs)的函数形式通常由地震动傅里叶谱模拟的概念导出,随后这些GMPEs由经验观测数据校准,所以,对特定地震场景的地震动预测不会构成重大问题。然而,当调整反应谱GMPEs来计算未被原始经验数据集覆盖的条件时,傅里叶谱模拟导出反应谱的假设可能会产生意想不到的结果。因此,几个问题出现了。例如,地震动傅里叶谱和反应谱的区别和相似之处是什么?如果它们是不同的,什么机制可以解释这样的差异?对傅里叶振幅谱(FAS)所做的调整在反应谱中怎么表示?本文利用随机振动理论(RVT)探讨了地震动傅里叶谱和反应谱之间的关系。借助简单的Brune震源模型^([1-2]),在固定震级和距离的情况下,用RVT生成了加速度谱。RVT分析表明,反应谱低频谱值标定可以视为与相应傅里叶谱标度值等同。然而,反应谱高频谱值受到了带宽很大的傅里叶谱的控制。实际上,地震动峰值加速度不能反映高频地震动特征,它受到了整个地震动傅里叶谱的控制。此外,本文说明了对FAS做的调整如何相似或区别于对反应谱坐标所做的相同的调整。为此,我们研究了调整应力参数(Δσ)(震源项)和调整反应场地响应的属性(V_S-κ_0)这两种情况。

关键词：反应谱 GMPE 地震动谱模随机振动理论振幅谱标度值速度谱峰值加速度调整反应

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Volume and fat infiltration of spino-pelvic musculature in adults with spinal deformity

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World Journal of Orthopedics 2015年第9期6卷 727-737页

作者： Bertrand Moal nicolas Bronsard José G Raya Jean Marc Vital frank Schwab Wafa Skalli Virginie Lafage Spine Division Hospital for Joint DiseasesNew-York University University Langone Medical Center Nice University Hospital Center Orthopedic and Traumatologic Surgery DepartmentH?pital Saint Roch Center for Biomedical Imaging Department of RadiologyNew York University Langone Medical Center University Hospital of Bordeaux Spinal UnitDepartement of Orthopaedic Surgery Laboratory of Biomechanics Arts et Métiers ParisTech

AIM: To investigate fat infiltration and volume of spino-pelvic muscles in adults spinal deformity(ASD) with magnetic resonance imaging(MRI) and 3D ***: Nineteen female ASD patients(mean age 60 ± 13) were included prospectively and consecutively and had T1-weighted Turbo Spin Echo sequence MRIs with Dixon method from the proximal tibia up to T12 vertebra. The Dixon method permitted to evaluate the proportion of fat inside each muscle(fat-water ratio). In order to investigate the accuracy of the Dixon method for estimating fat vs water, the same MRI acquisition was performed on phantoms of four vials composed of different proportion of fat vs water. With Muscl'X software, 3D reconstructions of 17 muscles or group of muscles were obtained identifying the muscle's contour on a limited number of axial images [Deformation of parametric specific objects(DPSO) Method]. Musclar volume(Vmuscle), infiltrated fat volume(Vfat) and percentage of fat infiltration [Pfat, calculated as follow: Pfat = 100 ×(Vfat/Vmuscle)] were characterized by extensor or flexor function respectively for the spine, hip and knee and theirs relationship with demographic data were investigated. RESULTS: Phantom acquisition demonstrated a non linear relation between Dixon fat-water ratio and the real fat-water ratio. In order to correct the Dixon fatwater ratio, the non linear relation was approximated with a polynomial function of degree three using the phantom acquisition. On average, Pfat was 13.3% ± 5.3%. Muscles from the spinal extensor group had a Pfat significantly greater than the other muscles groups, and the largest variability(Pfat = 31.9% ± 13.8%, P < 0.001). Muscles from the hip extensor group ranked 2nd in terms of Pfat(14% ± 8%), and were significantly greater than those of the knee extensor(P = 0.030). Muscles from the knee extensor group demonstrated the least Pfat(12% ± 8%). They were also the only group with a significant correlation between Vmuscle and Pfat(r =-0.

关键词： Spino-pelvic musculature Adults with spinal deformity Muscular degeneration Muscular volume Fat infiltration Dixon method

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Lack of correlation between Treg quantification assays in inflammatory bowel disease patients

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World Journal of Gastroenterology 2015年第11期21卷 3325-3329页

作者： Gunnar Brandhorst Darinka Todorova Petrova Sebastian Weigand Christoph Eberle nicolas von Ahsen Jessica Schmitz frank Christian Schultze Dirk Raddatz Michael Karaus Michael Oellerich Philip D Walson Department of Clinical Chemistry University Medical Center Department of Clinical Pharmacology University Medical Center Chronix Biomedical Clinics of Gastroen-terology and Endocrinology University Medical Center Department of Internal Medicine Evangelisches Krankenhaus G?ttingen--Weende

AIM:To compare the number of regulatory T-cells( Tregs) measured by flow cytometry with those obtained using a real-time quantitative PCR(q PCR) method in patients suffering from inflammatory bowel disease(IBD).METHODS:Tregs percentages obtained by both flow cytometry and q PCR methods in 35 adult IBD patients,18 out of them with Crohn′s disease(CD)and 17 with ulcerative colitis(UC)were compared to each other as well as to scores on two IBD activity questionnaires using the Harvey Bradshaw Index(HBI)for CD patients and the Simple Colitis Clinical Activity Index(SCCAI)for UC *** Treg percentages by flow cytometry were defined as CD4+CD25highCD127lowFOXP3+cells in peripheral blood mononuclear cells,whereas the Treg percentages by q PCR method were determined as FOXP3 promoter demethylation in genomic ***:We found an average of 1.56%±0.78%Tregs by using flow cytometry,compared to 1.07%±0.53%Tregs by using q PCR in adult IBD *** were no significant correlations between either the percentages of Tregs measured by flow cytometry or q PCR and the HBI or SCCAI questionnaire scores in CD or UC patients,*** addition,there was no correlation between Treg percentages measured by q PCR and those measured by flow cytometry(r=-0.06,P=0.73;Spearman Rho).These data suggest that,either Treg-related immune function or the clinical scores in these IBD patients did not accurately reflect actual disease *** the cause(s)for these differences are more clearly defined,the resultssuggest caution in interpreting studies of Tregs in various inflammatory ***:The two methods did not produce equivalent measures of the percentage of total Tregs in the IBD patients studied which is consistent with the conclusion that Tregs subtypes are not equally detected by these two assays.

关键词： Regulatory T-cells Inflammatory bowel disease Croh

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