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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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Blockchain software patterns for the design of decentralized applications:A systematic literature review

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Blockchain(Research and Applications) 2022年第2期3卷 25-38页

作者： nicolas Six nicolas Herbaut camille Salinesi Centre de Recherche en Informatique Universite Paris 1 Pantheon-Sorbonne75231 ParisFrance

A software pattern is a reusable solution to address a commonly occurring problem within a given context when designing *** patterns is a common practice for software architects to ensure software *** pattern collections have been proposed for a large number of application ***,because of the technology's recentness,there are only a few available collections with a lack of extensive testing in industrial blockchain *** is also difficult for software architects to adequately apply blockchain patterns in their applications,as it requires deep knowledge of blockchain *** a systematic literature review,this paper has identified 120 unique blockchain-related patterns and proposes a pattern taxonomy composed of multiple categories,built from the extracted pattern *** purpose of this collection is to map,classify,and describe all the available patterns across the literature to help readers make adequate decisions regarding blockchain pattern *** study also shows potential applications of those patterns and identifies the relationships between blockchain patterns and other non-blockchain software patterns.

关键词： Blockchain Software patterns Software design Smart contracts

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Time till death affects spider mobility and web-building behavior during web construction in an orb-web spider

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Current Zoology 2016年第2期62卷 123-130页

作者： Mylene ANOTAUX camille TOSCANI Raymond LEBORGNE nicolas CHALINE Alain PASQUET Faculte des Sciences et Technologies Universite de Lorraine 54506 Vandoeuvre Nancy France Ecole nationale veterinaire d'Alfort Universite Paris-Est UMR 7179 CNRS MNHN Maisons-Alfort F-94704 France Laboratoire d'Ethologie Experimentale et Comparee EA 4443 Universite Paris 13 99 avenue J.B. Clement 93430 Villetaneuse France Faculte des Sciences et Technologies Universite de Lorraine CNRS UR AFPA. B.P. 239 54506 Vandoeuvre Nancy France

It is well known that age influences organism mobility. This was demonstrated in vertebrates （such as mammals and birds） but has been less studied in invertebrates with the exception of Drosophila and the nematode Caenorhabditis elegans. Here we studied the influence of age on the mobility of the orb-weaving spider Zygiella x-notata during web construction. The orb-web is a good model because it has a characteristic geometrical structure and video tracking can be used to easily follow the spider＇s movements during web building. We investigated the influence of age （specifically chronological age, life span, and time till death） on different parameters of spider mobility during the construction of the capture spiral （distance traveled, duration of construction, spider velocity, spider movement, and spider inactivity） with a generalized linear model （GLM） procedure adjusted for the spider mass. The re- sults showed that neither chronological age, nor life span affected the mobility parameters. However, when the time till death decreased, there was a decrease in the distance traveled, the duration of the construction of the capture spiral, and the spider movement. The spider velocity and the time of inactivity were not affected. These results could be correlated with a decrease in the length of the silky thread deposited for the construction of the capture spiral. Spiders with a shorter time till death built smaller web using less silk. Thus, our study suggests strongly that time till death affects spider mobility during web construction but not the chronological age and thus may be a good indicator of senescence.

关键词： ageing behaviors orb-web construction spider mobility Zygiella x-notata.

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Terrain based co-operative UAV mapping of complex obstacles using 2-D splinegon

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International Journal of Intelligent Computing and Cybernetics 2012年第3期5卷 248-292页

作者： Samuel B.Lazarus Antonios Tsourdos Brian A.White Peter Silson Al Savvaris camille-Alain Rabbath nicolas Lèchevin School of Engineering Cranfield UniversityCranfieldUK Autonomous Systems Group Defence Academy of the United KingdomCranfield UniversityShrivenhamUK Defence Research and Development Canada-Valcartier Quebec CityCanada Numerica Technologies Inc.ValcartierQuebec CityCanada

Purpose-This paper aims to describe a recently proposed algorithm in terrain-based cooperative UAV mapping of the unknown complex obstacle in a stationary environment where the complex obstacles are represented as curved in *** also aims to use an extended Kalman filter(EKF)to estimate the fused position of the UAVs and to apply the 2-D splinegon technique to build the map of the complex shaped *** path of the UAVs are dictated by the Dubins path planning *** focus is to achieve a guaranteed performance of sensor based mapping of the uncertain environments using multiple ***/methodology/approach–An extended Kalman filter is used to estimate the position of the UAVs,and the 2-D splinegon technique is used to build the map of the complex obstacle where the path of the UAVs are dictated by the Dubins path planning ***-The guaranteed performance is quantified by explicit bounds of the position estimate of the multiple UAVs for mapping of the complex obstacles using 2-D splinegon *** is a newly proposed algorithm,the most efficient and a robust way in terrain based mapping of the complex *** proposed method can provide mathematically provable and performance guarantees that are achievable in ***/value-The paper describes the main contribution in mapping the complex shaped curvilinear objects using the 2-D splinegon *** is a new approach where the fused EKF estimated positions are used with the limited number of sensors’measurements in building the map of the complex obstacles.

关键词： Multiple sensor fusion Data fusion EKF based navigation Multiple UAVs 2-D splinegon Robust UAV localization Complex obstacle mapping Sensor fusion Navigation

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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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Use of a specific questionnaire and perineal electromyography to assess neuropathic pain after radical retropubic prostatectomy

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Asian Journal of Urology 2019年第4期6卷 364-367页

作者： nicolas Turmel Samer Sheikh Ismael camille Chesnel Audrey Charlanes Claire Hentzen Frédérique Le Breton Gérard Amarenco Department of Neurourology Tenon HospitalGRC01 GREEN Group de Recherche Clinical NeurourologySorbonne University UPMCParisFrance

Objective:Prostate cancer is the most frequent cancer in men and radical retropubic prostatectomy(RRP)is one of the first-line ***,RRP has some side effects and can lead to chronic perineal *** objective of the study was to determine in patients suffering from perineal pain after RRP the possibility of a neurogenic damage by means of a specific questionnaire dedicated to track down neuropathic ***:Forty patients were explored by a specific and validated questionnaire,the Neuropathic Pain Symptom Inventory(NPSI).Patients were divided into two groups:Group A with an NSPI score≥4 was considered as suffering from neuropathic pain,and Group B was considered as a control group without neuropathic pain(NSPI score<4).All patients had a perineal electrophysiological testing to confirm the possibility of a neurogenic ***:Group A was composed by 13 men and Group B by 27 men,with mean age 72.45 years and mean duration of pain 2.7 *** Group A,the most frequent symptoms were burning sensation,electrical shock and *** of the pain was global perineal area(8/13),anus(10/13),penis(5/13)and glans penis(2/13).Electromyography(EMG)findings confirmed the presence of denervation and neurogenic damages compared with controls(p<0.001).Conclusion:One third of the patients consulting for chronic pain following RRP had probably a neuropathic lesion leading to a chronic perineal pain as suggested by an NSPI score≥4 and EMG alterations.

关键词： Prostatectomy Neuropathic pain Specific questionnaire Perineal electromyography

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Application of Arbuscular Mycorrhizae Glomus iranicum var. tenuihypharum var. nova in Intensive Agriculture： A Study Case

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Journal of Agricultural Science and Technology(B) 2017年第4期7卷 221-247页

作者： Felix Femandez Martin Jesus Juarez Molina Emilio nicolas nicolas Juan Jose Alarcan Martin Kirchmair Francisco Jose Garcia Antonio Jose Bemabe Garcia camille Bemal SYMBORG S.L. Campus de Espinardo 7 Edificio CEEIM CP Murcia 30100 Spain CEBAS-CSIC Campus de Espinardo CP Murcia 30100 Spain Universitat lnnsbruck Institut fur Mikrobiologie Technikerstr 25 lnnsbruck A-6020 Austria

Intensive agriculture contributes to a decrease in microbial biomass and crop yields, while accelerating soil degradation. Arbuscular mycorrhizae associations have direct benefits for plant nutrition, and may be considered a useful tool in modem agriculture. Notwithstanding the widespread knowledge of these benefits, their use in intensive fanning systems has until now been ineffectual, because most mycorrhizal species have low tolerance toward high concentrations of nutrients and are poorly adapted to the soil and/or mycorrhizal functioning. The aim of this work was to test the efficacy of an arbuscular mycorrhizal （AM） fungus, Glomus iranicum var. tenuihypharum on lettuce and table grape crops in different intensive farming systems. The variables studied were root colonization percentage, external mycelium concentration, gas exchange, photosynthetic activity, root starch concentration and plant nutrition. The main finding was that the fungus is tolerant of a wide range of soil pH values, high salinity levels and abundant external mycelium. In lettuce, it produced significant increases in plant physiological activity and productivity （10%-15%）; and in table grapes, increases of 12%-45% in yield were achieved for more than three years in Crimson variety, and significant increases in fruit cluster weight, color uniformity and Brix （~Bx）. The AM species is protected by two patents and is a component of MycoUp, MycoUp Activ, Resid HC and Resid MG, whose commercial application has spread to more than 30 countries, with increments in crop yields of 8%-45% in lines as varied as leaf vegetables, berries, fruit, olives, grapes, greenhouse crops and cereals.

关键词： Arbuscular mycorrhizal Glomus iranicum vat. tenuihypharum intensive agriculture gas exchange root starchconcentration photosynthetic activity.

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Outcomes of nonresected main-duct intraductal papillary mucinous neoplasms of the pancreas

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World Journal of Gastroenterology 2015年第9期21卷 2658-2667页

作者： Mathieu Daudé Fabrice Muscari camille Buscail nicolas Carrère Philippe Otal Janick Selves Louis Buscail Barbara Bournet Department of Gastroenterology CHU Toulouse RangueilUniversity of Toulouse31059 ToulouseFrance Department of Digestive Surgery CHU Toulouse Rangueil and PurpanUniversity of Toulouse31059 ToulouseFrance Department of Public Health and Epidemiology CHU Rennes PontchaillouUniversity of Rennes35033 RennesFrance Department of Radiology CHU Toulouse RangueilUniversity of Toulouse31059 ToulouseFrance Department of Pathology CHU Toulouse PurpanUniversity of Toulouse31300 ToulouseFrance

AIM:To compare characteristics and outcomes of resected and nonresected main-duct and mixed intraductal papillary mucinous neoplasms of the pancreas(IPMN).METHODS:Over a 14-year period,50 patients who did not undergo surgery for resectable main-duct or mixed IPMN,for reasons of precluding comorbidities,age and/or refusal,were compared with 74 patients who underwent resection to assess differences in rates of survival,recurrence/occurrence of malignancy,and prognostic *** study participants had dilatation of the main pancreatic duct by ≥ 5 mm,with or without dilatation of the branch *** of the nonsurgical patients showed evidence of mucus upon perendoscopic retrograde cholangiopancreatography or endoscopic ultrasound and/or after fine needle *** the surgical patients,pathologic analysis of resected specimens confirmed a diagnosis of IPMN with involvement of the main pancreatic duct or of both branch ducts as well as the main pancreatic *** and biologic follow-ups were conducted for all patients at least annually,through hospitalization or consultation every six months during the first year of follow-up,together with abdominal imaging analysis(magnetic resonance cholangiopancreatography or computed tomography) and,if necessary,endoscopic ultrasound with or without fine needle ***:The overall five-year survival rate of patients who underwent resection was significantly greater than that for the nonsurgical patients(74% vs 58%; P =0.019).The parameters of age( 10 mm,branch ductdiameter > 30 mm,or presence of extra pancreatic cancers did not significantly influence the *** the nonsurgical patients,pancreatic malignancy occurred in 36% of cases within a mean time of 33 mo(median:29 mo; range:8-141 mo).Comparison of the nonsurgical patients who experienced disease progression

关键词： Main-duct intraductal papillary mucinous neoplasms

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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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