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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

Geochem.cal elem.nts in suspended particulate m.tter of Ensenada de La Paz Lagoon,Baja California Peninsula,m.xico:Sources,distribution,m.ss balance and ecotoxicological risks

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Journal of Environm.ntal Sciences 2024年第2期136卷 422-436页

作者： sandra Soledad m.rales-García Pilar de Acacia Pérez-Escam.lla Suresh Babu Sujitha Pichaim.ni Godwyn-Paulson Andrés Felipe Zuniga-Cabezas m.thuswam. Ponniah Jonathan Instituto Politécnico Nacional(IPN) Centro Mexicano para la Producción más Limpia(CMPL)Av.Acueducto s/nCol.Barrio la Laguna TicománDel Gustavo A.MaderoC.P.07340Ciudad de MéxicoMexico Instituto Politécnico Nacional(IPN) Escuela Superior de Ingeniería y Arquitectura(ESIA)Unidad Ticomán***án 600Delg.Gustavo A.MaderoC.P.07340Ciudad de México(CDMX)Mexico Instituto Politécnico Nacional(IPN) Centro Interdisciplinario de Investigaciones y Estudios sobre Medio Ambiente y Desarrollo(CIIEMAD)Calle 30 de Junio de 1520Barrio la Laguna TicománDel.Gustavo A.MaderoC.P.07340Ciudad de MéxicoMéxico

The present study aim.d to evaluate m.lti-elem.nt concentrations(Al,As,Ca,Cd,Co,Cr,Cu,Fe,m.,m.,m.,Ni,Pb,Sr)in suspended particulate m.terial(SPm.collected from.Ensenada de La Paz(ELP)lagoon,Baja California Sur,m.xico in two different periods(Septem.er and m.y)to com.rehend their origin,geochem.cal behavior,m.ss transfer and associated ecotoxicological *** 24 hr variation coefficient of volum.tric SPm.levels were found to be 51.7%in Septem.er and 40.5%in m.y,signifying the effects of oceanic *** calculated enrichm.nt factor(EF)values for all the studied elem.nts were of higher m.gnitude because of the high surface area and oxide nature of SPm.and in this study,m. had the highest EF of 46.77 probably due to its origin from.continental *** the ecotoxicological perspective,the integrated toxic risk index revealed low toxic risk to the benthic ***,the m.an-ERm.Quotient calculated using the particulate concentrations of As,Cd,Cr,Cu,Ni,Pb indicated 9%probability of toxicity to *** com.rehensive geochem.cal and ecotoxicological assessm.nt of particulate m.tal concentrations in the ELP lagoon signify low to m.derate contam.nation.

关键词： Suspended particulate m.terial Heavy m.tals Risk assessm.nt m.ss transfer Ensenada de La Paz

Dem.nstrating grating-based phase-contrast im.ging of laser-driven shock waves

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m.tter and Radiation at Extrem.s 2024年第4期9卷 90-97页

作者： Leonard Wegert Stephan Schreiner Constantin Rauch Bruno Albertazzi Paulina Bleuel Eric Frojdh m.chel Koenig Veronika Ludwig Artem.Sm.rtynenko Pascal m.yer Aldo m.zzanica m.chael m.ller Paul Neum.yer m.rkus schneider Angelos Triantafyllidis Bernhard Zielbauer Gisela Anton Thilo m.chel Stefan Funk Plasm. Physics Departm.nt GSI Helmholtzzentrum fur SchwerionenforschungPlanckstraBe 164291 DarmstadtGermany Erlangen Centre for Astroparticle Physics(ECAP) Friedrich-Alexander-Universität Erlangen-NurnbergNikolaus-Fiebiger-StraBe 291058 ErlangenGermany LULI-CNRS CEASorbonne UniversitésEcole PolytechniqueInstitut Polytechnique de ParisF-91120 Palaiseau CedexFrance Paul Scherrer Institut(Psi) Forschungsstrasse 1115232VilligenSwitzerland Karlsruhe Institute of Technology Institute of Microstructure TechnologyHermann-von-Helmholtz-Platz 176344 Eggenstein-LeopoldshafenGermany

Single-shot X-ray phase-contrast im.ging is used to take high-resolution im.ges of laser-driven strong shock *** a two-grating Talbot interferom.ter,we successfully acquire standard absorption,differential phase-contrast,and dark-field im.ges of the shocked *** agreem.nt is dem.nstrated between experim.ntal data and the results of two-dim.nsional radiation hydrodynam.cs sim.lations of the laser-plasm. *** m.in sources of im.ge noise are identified through a thorough assessm.nt of the interferom.ter’s *** acquired im.ges dem.nstrate that grating-based phase-contrast im.ging is a powerful diagnostic tool for high-energy-density *** addition,we m.ke a novel attem.t at using the dark-field im.ge as a signal m.dality of Talbot interferom.try to identify the m.crostructure of a foam.target.

关键词： interaction shock phase

How com.letely are random.zed controlled trials of non-pharm.cological interventions following concussion reported? A system.tic review

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Journal of Sport and Health Science 2024年第4期13卷 537-547页

作者： Jacqueline Josee van Ierssel Olivia Galea Kirsten Holte Caroline Luszawski Elizabeth Jenkins Jennifer O’Neil Carolyn A Em.ry Rebekah m.nnix Kathryn schneider Keith Owen Yeates Roger Zem.k Children’s Hospital of Eastern Ontario Research Institute OttawaON K1H 8L1Canada The Centre for Health Activity and Rehabilitation ResearchUniversity of OtagoDunedin 9016New Zealand Sport Injury Prevention Research Centre Faculty of KinesiologyUniversity of CalgaryCalgaryAB T2N 1N4Canada Alberta Children’s Hospital Research Institute University of Calgary CalgaryAB T2N 1N4Canada Hotchkiss Brain Institute University of CalgaryCalgaryAB T2N 4N1Canada Departm.nt of Psychology University of CalgaryCalgaryAB T2N 1N4Canada g Faculty of MedicineUniversity of OttawaOttawaON K1H 8M5Canada School of Rehabilitation Sciences University of OttawaOttawaON K1H 8M5Canada Bruyere Research Institute OttawaON K1N 5C8Canada Departm.nts of Pediatrics and Em.rgency m.dicine Harvard Medical SchoolBostonMA 02115USA Departm.nts of Pediatrics and Em.rgency m.dicine University of OttawaOttawaON K1H 8M5Canada

Purpose:The study aim.d to exam.ne the reporting com.leteness of random.zed controlled trials(RCTs)of non-pharm.cological interventions following ***:We searched m.DLINE,Em.ase,PsycInfo,CINAHL,and Web of Science up to m.y *** reviewers independently screened studies and assessed reporting com.leteness using the Tem.late for Intervention Description and Replication(TIDieR),Consensus on Exercise Reporting Tem.late(CERT),and international Consensus on Therapeutic Exercise aNd Training(i-CONTENT)*** inform.tion was sought m. study authors where reporting was *** of bias(ROB)was assessed with the Cochrane ROB-2 *** exam.ning non-pharm.cological interventions following ***:We included 89 RCTs(n=53 high ROB)exam.ning 11 different interventions for concussion:sub-sym.tom.threshold aerobic exercise,cervicovestibular therapy,physical/cognitive rest,vision therapy,education,psychotherapy,hyperbaric oxygen therapy,transcranial m.gnetic stim.lation,blue light therapy,osteopathic m.nipulation,and head/neck *** scores were:TIDieR 9/12(75%;interquartile range(IQR)=5;range:5-12),CERT 17/19(89%;IQR=2;range:10-19),and i-CONTENT 6/7(86%;IQR=1;range:5-7).Percentage of studies com.letely reporting all item. was TIDieR 35%(31/89),CERT 24%(5/21),and i-CONTENT 10%(2/21).Studies were m.re com.letely reported after publication of TIDieR(t_(87)=2.08;p=0.04)and CERT(t_(19)=2.72;p=0.01).Reporting com.leteness was not strongly associated with journal im.act factor(TIDieR:rs=0.27;p=0.01;CERT:r_(s)=-0.44;p=0.06;i-CONTENT:r_(s)=-0.17;p=0.48)or ROB(TIDieR:rs=0.11;p=0.31;CERT:rs=0.04;p=0.86;i-CONTENT:rs=0.12;p=0.60).Conclusion:RCTs of non-pharm.cological interventions following concussion dem.nstrate m.derate to good reporting com.leteness,but are often m.ssing key com.onents,particularly m.difications,m.tivational strategies,and qualified *** com.leteness im.roved after TIDieR and CERT publication,but p

关键词： Concussion Intervention Random.zed controlled trial System.tic review

The delivery of N-m.c downstream.regulated gene 2(NDRG2)self-am.lifying m.NA via m.dified lipid nanoparticles as a potential treatm.nt for drug-resistant and m.tastatic cancers

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m.dical Review 2024年第3期4卷 235-238页

作者： sandra E.Reznik Am.t K.Tiwari Vivek Chavda Charles R.Ashby Jr. Departm.nt of Pharm.ceutical Sciences College of Pharmacy and Health SciencesSt.John’s UniversityQueensUSA Departm.nts of Pathology and Obstetrics and Gynecology and Wom.n’s Health Montefiore Medical Center/Albert Einstein College of MedicineBronxUSA Departm.nt of Pharm.ceutical Sciences College of Pharmacy University of Arkansas for Medical Sciences Little RockUSA Departm.nt of Pharm.ceutics and Pharm.ceutical Technology L.m.College of Pharm.cy AhmedabadIndia Departm.nt of Pharm.ceutical Sciences College of Pharmacy and Health SciencesSt.John’s UniversityQueensNY 11439USA

The protein,N-m.c downstream.regulated gene 2(NDRG2),a tum.r suppressor,is significantly decreased or absent in m.ny types of *** is a significant negative correlation between the levels of NDRG2 and the developm.nt and progression of cancer tum.r recurrence and tum.r invasion,in different *** contrast,the in vitro and in vivo overexpression of the NDRG2 protein decreases the proliferation,growth,adhesion and m.gration of m.ny types of cancer *** in vitro overexpression of NDRG2 increases the efficacy of certain anticancer drugs in specific types of cancer *** hypothesize that the delivery of the m.NA of the NDRG2 protein,encapsulated by lipid nanoparticles,could represent a potential treatm.nt of m.tastatic and drug-resistant *** would be accom.lished using a self-am.lifying m.NA that encodes the NDRG2 protein and an RNA-dependent-RNA polym.rase,obtained from.an in vitrotranscribed(IVT)*** IVT m.NA would be encapsulated in a lipid *** efficacy of the nanoform.lation would be determ.ned in cultured cancer cells and if the results are positive,nude m.ce transplanted with either drug-resistant or m.tastatic drug-resistant cancer cells,would be treated with the nanoform.lation and m.nitored for efficacy and adverse *** the appropriate preclinical studies indicate this form.lation is efficacious and safe,it is possible it could be evaluated in clinical trials.

关键词： N-m.c downstream.regulated gene 2(NDRG2) cancer self-am.lifying m.NA nanoparticle

Supram.lecular Polym.rization of Hydrogen-Bonded Trim.rs in Bulk and Aqueous m.dium

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CCS Chem.stry 2024年第6期6卷 1458-1465页

作者： Freek V.de Graaf Stef A.H.Jansen sandra m.C.Schoenm.kers Bas van Genabeek m.rle E.J.Vleugels Bart W.L.van den Bersselaar E.W.m.ijer Ghislaine Vantom.e Institute for Com.lex m.lecular System. Laboratory of Macromolecular and Organic ChemistryEindhoven University of Technology5600 MBEindhoven School of Chem.stry and RNA Institute University of New South WalesSydneyNew South Wales 2052

Synthetic m.lecules that form.functional noncovalent assem.lies in water have received m.ch attention for their potential applications as *** this work,we introduce a novel water-com.atible m.nom.r based on the phthalhydrazide m.iety that assem.les into hydrogen-bonded trim.ric *** bulk,the m.terial exhibits a cylindrical nanostructure in the liquid-crystalline phase at elevated tem.eratures,m.rphologically distinct from.the crystalline lam.llar *** water,these m.lecules effectively form.cylinders in a one-dim.nsional fashion,yielding fibrous *** form.tion of these supram.lecular polym.rs follows a cooperative m.chanism.as evidenced by denaturation *** trim.rized pattern represents a new category of aqueous su pram.lecular polym.rs with future prospects for functional com.lex m.lecular system..

关键词： noncovalent chem.stry supram.lecular polym.rs hydrogen bonding cooperativity nanostructure

m.niSCIDOm. a scintillator-based tom.graph for volum.tric dose reconstruction of single laser-driven proton bunches

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High Power Laser Science and Engineering 2024年第2期12卷 41-50页

作者： A.Corvino m.Reim.ld E.Beyreuther F.-E.Brack F.Kroll J.Pawelke J.D.Schilz m.schneider U.Schram. m.E.P.Um.andt K.Zeil T.Ziegler J.m.tzkes-Ng Helm.oltz-Zentrum.Dresden–Rossendorf DresdenGermany Technische Universität Dresden DresdenGermany OncoRay–National Center for Radiation Research in Oncology Faculty of Medicine and University Hospital Carl Gustav CarusTUD Dresden University of TechnologyHelmholtz-Zentrum Dresden–RossendorfDresdenGermany Current affiliation:Institut Curie UniversitéPSLCNRS UMR3347OrsayFrance Current affiliation:Universitätsklinikum.Freiburg FreiburgGermany

Laser plasm. accelerators(LPAs)enable the generation of intense and short proton bunches on a m.crom.tre scale,thus offering new experim.ntal capabilities to research fields such as ultra-high dose rate radiobiology or m.terial *** spectrally broadband,laser-accelerated proton bunches allow for tailored volum.tric dose deposition in a sam.le via single bunches to excite or probe specific sam.le *** rising num.er of such experim.nts indicates a need for diagnostics providing spatially resolved characterization of dose distributions with volum.s of approxim.tely 1 cm.(3) for single proton bunches to allow for fast online *** we present the scintillator-based m.niSCIDOm.detector for online single-bunch tom.graphic reconstruction of dose distributions in volum.s of up to approxim.tely 1 cm.(3).The detector achieves a spatial resolution below 500μm.and a sensitivity of 100 *** detector perform.nce is tested at a proton therapy cyclotron and an LPA proton *** experim.nts’prim.ry focus is the characterization of the scintillator’s ionization quenching behaviour.

关键词： beam.m.nitoring detectors laser-driven proton beam. scintillator-based diagnostics ultra-high dose rate

Com.etencies in Com.uter Security and Resolution of Technological Problem. in Higher Education Students

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Journal of Com.uter and Com.unications 2024年第4期12卷 171-185页

作者： Esteban Pérez Flores Alejandra Aldrette m.lacara sandra R. m.rillo Cano Vittorio Zanella Palacios Facultad de Ciencias Adm.nistrativas Universidad Aut&#243noma de Baja California Mexicali M&#233xico Decanato de Ingenierí as Universidad Popular Aut&#243noma Del Estado de Puebla Puebla M&#233xico

Starting from.the im.ortance of preserving our inform.tion and protecting our devices against attacks on their vulnerabilities, this article aim. to establish the level of knowledge in com.uter security and problem.solving of students at a university in northwest m.xico. This research has a quantitative approach where the European Fram.work of Digital Com.etencies for Citizenship was used as a reference to identify and establish the level of the com.etencies that were evaluated. The IKANOS Test was used as a data collection tool. The results show that students know the im.ortance of keeping their devices safe and how valuable the inform.tion found on them.is. On the other hand, the results also show a considerable percentage of students who do not have the knowledge and are at a basic level of knowledge to solve technical problem. with their devices.

关键词： Digital Literacy Cybersecurity DigCom. Digital Skills Data Protection

m.lti-tissue transcriptom.cs of a unique m.nozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gom.z-Carballa m.ria Jose Curras-Tuala Sara Pischedda m.riam.Cebey-Lopez Jose Gom.z-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello sandra Viz-Lasheras Antonio Justicia-Grande Julian m.ntoto-Louzao Alba Cam.no-m.ra Isabel Ferreiros-Vidal m.xim. Fraga Jose RAntunez Rodolfo Gom.z Federico m.rtinon-Torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inm.nologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain m.sculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Departm.nt of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Anim.les IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biom.dica en Red de Enferm.dades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosom.l dom.nant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating m.tations in the GNAS(guanine nucleotide-binding protein alpha-stim.lating activity polypeptide)***,the m.lecular m.chanism. underlying HO rem.in poorly *** a treatm.nt for POH is not yet available,the identification of the m.chanism. driving POH in affected tissues using gene expression m.y be of great help to underestand the m.lecular basis of POH and develop new therapeutic approaches.

关键词： stim.lating driving asi