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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 cam.lle 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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A collagen plug with shape memory to seal iatrogenic fetal membrane defects after fetoscopic surgery

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生物活性材料(英文) 2023年第2期20卷 463-471页

作者： Rob T.C.Meuwese Elly M.M.Versteeg Joris van Drongelen Daniëlle de Hoog Debora Bouwhuis frank P.H.A.Vandenbussche Toin H.van Kuppevelt Willeke F.Daamen Department of Biochemistry Radboud Institute for Molecular Life SciencesRadboud University Medical CenterPO Box 91016500 HBNijmegenthe Netherlands Department of Obstetrics&Gynecology Radboud University Medical CenterPO Box 91016500 HBNijmegenthe Netherlands Department of Obstetrics&Gynecology Helios Klinikum DuisburgAn der Abtei 747166DuisburgGermany

Iatrogenic preterm premature rupture of fetal membranes(iPPROM)after fetal surgery remains a strong trigger for premature *** fetal membrane defects do not heal spontaneously and amniotic fluid leakage and chorioamniotic membrane separation may occur,we developed a biocompatible,fetoscopically-applicable collagen plug with shape memory to prevent *** plug expands directly upon employment and seals fetal membranes,hence preventing amniotic fluid leakage and potentially *** typeⅠcollagen plugs were given shape memory and crimped to fit through a fetoscopic cannula(Ø3 mm).Expansion of the plug was examined in phosphate buffered saline(PBS).Its sealing capacity was studied ex vivo using human fetal membranes,and in situ in a porcine bladder *** crimped plug with shape memory expanded and tripled in diameter within 1 min when placed into PBS,whereas a crimped plug without shape memory did *** both human fetal membranes and porcine bladder,the plug expanded in the defect,secured itself and sealed the defect without membrane *** conclusion,collagen plugs with shape memory are promising as medical device for rapid sealing of fetoscopic defects in fetal membranes at the endoscopic entry point.

关键词： Biomaterial Crosslinking Fetoscopy Fetal therapy Medical device Regenerative medicine

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Therapeutic Effects of an Alpha-Casozepine and White Fish Muscle Hydrolyzed Complementary Feed on Canine Separation-Related Disorders and Quality of Life of Dogs and Their Pet Owners

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Open Journal of Veterinary Medicine 2023年第6期13卷 68-81页

作者： Gaëlle Porcheron Marie Bodet Katell Poiron Julie Brault nicolas Massal Olivier Roy Oscar Fantini Cebiphar Fondettes France Clinique Vétérinaire de la Victoire Tours France Clinique Vétérinaire LESVET Lesneven France Clinique Vétérinaire du Gabereau Chateuneuf-sur-Loire France Clinique Vétérinaire de la Paix Pau France Vetoquinol SA Paris France

Background: Separation-related disorders are prevalent in dogs and can result in problem behaviours such as inappropriate elimination, destructive behaviour, and distress vocalizations which occur when an owner is absent or perceived as absent. Numerous natural products are marketed for managing anxiety in dogs;however, few, if any, of these products have documented evidence of efficacy in veterinary behaviour. Purpose: This open, multicentric clinical trial aimed to assess the efficacy of a new supplement containing alpha-casozepine and fish muscle hydrolysate on the separation-related problem in dogs and the impact on the quality of life of dogs and their pet owners. Material and Methods: Fifty-one dogs with clinical signs compatible with separation-related problems were included. The dogs were treated with a complementary feed (Zylkene Plus, Vetoquinol, France) for 30 days. Separation-related behaviour assessment (SRP), emotional disorders assessment (EDED) and the quality of life (QoL) of the pets and their pet owner were assessed at baseline and the end of the study by the veterinarians. In addition, owners were asked to rate their dog’s SRP weekly after enrolment using the same questionnaire that the veterinarian used at the beginning of the study. Results: There was a statistically significant improvement in the SRP, EDED, and QoL scores (P Conclusion: The results of this study support the hypothesis that the combination of alpha-casozepine and fish muscle hydrolysate is a promising and effective option to reduce the frequency and severity of separation-related behaviour in dogs and improve the quality of dogs and their owners.

关键词： Alpha-Casozepine Fish Muscle Hydrolysate Canine Separation-Related Disorders Dogs

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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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Induced structural modifications in ZnS nanowires via physical state of catalyst:Highlights of 15R crystal phase

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Nano Research 2022年第1期15卷 377-385页

作者： Sumit Kumar Frederic Fossard Gaelle Amiri Jean-Michel Chauveau Vincent Sallet Groupe d'Etude de la Matiere Condensee(GEMAC) Universite Paris-SaclayCNRS-Universite de Versailles St Quentin en Yvelines45 avenue des Etats-UnisVersailles 78035France Laboratoire d'Etude des Microstructures(LEM) CNRS-ONERAUniversite Paris-Saclay29 avenue Division LeclercChatillon 92322France

Peculiar and unique growth mechanisms involved in semiconductor nanowires(NWs)pave the way to the achievement of new crystallographic phases and remarkable material properties,and hence,studying polytypism in semiconductor NWs arouses a strong interest for the next generation of electronic and photonic *** this context,the growth of ZnS nanowires has been investigated,as bulk ZnS compound exhibits numerous unstable polytypes at high temperatures,but their stable occurrence is highly anticipated in a nanowire due to its special quasi-dimensional shape and growth *** this work,the idea is to provide a change in the growth mechanism via the physical state of catalyst droplet(liquid or solid)and hence,study the induced structural modifications in ZnS *** HRTEM images of VLS(via liquid alloyed catalyst)grown ZnS NWs show periodic stacking faults,which is precisely identified as a stacking sequence of cubic or hexagonal individual planes leading to an astonishing 15R crystal *** crystallographic phase is observed for the first time in ***,NWs grown with VSS(via solid catalyst)show crystal polytypes of zinc blende and *** calculate and discuss the role of cohesive energies in the formation of such ZnS ***,we present the selection rules for the crystallization of such 15R structure in NWs and discuss the involved VLS and VSS growth mechanisms leading to the formation of different crystal phases.

关键词： ll-VI semiconductors MOCVD vapor-liquid-solid(VLS) vapor-solid-solid(VSS) TEM analysis polytypism

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Risk factors for mortality in postoperative peritonitis in critically ill patients

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World Journal of Critical Care Medicine 2017年第1期6卷 48-55页

作者： Yoann Launey Benjamin Duteurtre Rapha?lle Larmet nicolas Nesseler Audrey Tawa Yannick Mallédant Philippe Seguin Anesthésie Réanimation 1 Centre Hospitalier Universitaire de Rennes

AIM To identify the risk factors for mortality in intensive care patients with postoperative peritonitis(POP).METHODS This was a retrospective analysis using a prospective database that includes all patients hospitalized in a surgical intensive care unit for POP from September 2006 to August 2011. The data collected included demographics, comorbidities, postoperative severity parameters, bacteriological findings, adequacy of antimicrobial therapy and surgical treatments. Adequate source control was defined based on a midline laparotomy, infection source control and intraoperative peritoneal lavage. The number of reoperations needed was also *** A total of 201 patients were included. The overall mortality rate was 31%. Three independent risk factors for mortality were identified: The Simplified Acute Physiological Ⅱ Score(OR = 1.03; 95%CI: 1.02-1.05, P < 0.001), postoperative medical complications(OR = 6.02; 95%CI: 1.95-18.55, P < 0.001) and the number of reoperations(OR = 2.45; 95%CI: 1.16-5.17, P = 0.015). Surgery was considered as optimal in 69% of the cases, but without any significant effect on mortality. CONCLUSION The results from the large cohort in this study emphasize the role of the initial postoperative severity parameters inthe prognosis of POP. No predefined criteria for optimal surgery were significantly associated with increased mortality, although the number of reoperations appeared as an independent risk factor of mortality.

关键词： Mortality Postoperative peritonitis Risk factors Surgery

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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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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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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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