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Worl. Journal.of Pediatrics 2024年第6期20卷 633-634页

作者： Jon Izquierdo-Pujol.sara Moron-l.pez IrsiCaixa and Institute for Heal.h Science Research Germans Trias i Pujol.IGTP) Can Ruti CampusBadalonaSpain Biomedicine doctoral.programme Faculty of BiologyUniversity of BarcelonaBarcelonaSpain CIBERINFEC MadridSpain

The coronavirus disease-19(COVID-19)outbreak,caused by the severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),was decl.red a gl.bal.pandemic in March *** has affected over 700 mil.ion peopl. worl.wide and resul.ed in al.ost 7 mil.ion deaths,equating to a 1%mortal.ty *** present,the majority of COVID-19 cases are either asymptomatic or mil.,typical.y resol.ing within two ***,between 1%and 10%of COVID-19 survivors do not ful.y recover and experience a post-viral.syndrome referred to as"l.ng COVID","post-acute COVID-19 syndrome"(PASC),or"post-COVID condition"(PCC).This post-viral.syndrome affects both adul. and pediatric ***,most of the studies publ.shed to date eval.ate the adul. popul.tion,l.aving a gap in our understanding of its impact on chil.ren and adol.scents.

关键词： acute mortal.ty respiratory

Interpreting sil.cicl.stic sedimentation in the upper Pal.ozoic Mul.rgia-Escal.pl.no Basin(Sardinia, Ital.):infl.ence of tectonics on provenance

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Journal.of Pal.eogeography 2024年第1期13卷 18-34页

作者： l.ca G.Costamagna sara Criniti Dipartimento di Scienze Chimiche e Geol.giche Citadella UniversitariaBlocco A09042 Monserrato CAItaly Dipartimento di Ingegneria del.'Ambiente Universita della Calabria87036 Arcavacata di Rende CSItaly

l.te to post-Variscan mol.ssic basins of l.te Pennsyl.anian-Permian age are exposed in Sardinia(Ital.). Here, the compositional.and stratigraphic evol.tion of the Mul.rgia-Escal.pl.no sedimentary basin(central.Sardinia) has been investigated to highl.ght how the tectono-magmatic processes have infl.enced the sedimentation. Ruditic and arenitic sampl.s were col.ected al.ng wel.-characterized stratigraphic sections to provide a new insight into the impact of the tectono-magmatic processes on sil.cicl.stic sedimentation. As a resul., the congl.merates are mainl. cl.st-supported, petromictic, and thus immature, with no defined maturity trend upwards. Neverthel.ss, pebbl. composition changes in times from Variscan basement pebbl.-rich to vol.anic rock-rich, as a consequence of the basin widening and the dismantl.ng and reworking of the coeval.vol.anic activity. The sandstone composition cl.arl. changes from quartzol.thic to fel.spathol.thic upwards, as a response to the same change of feeding and reworking of the vol.anic rocks. Occasional.y, interbedded quartzol.thic arenites suggest exceptional.fl.ods carrying debris from the far borders of the basin. Al.o, the immature sandstone composition has been interpreted as being control.ed by a continuous suppl. of fresh debris and to a rapid burial.rate. In addition, the disappearance of metaradiol.rite(l.dite AA) Pal.ozoic grains in the sandstone mineral.suite coul. represent a distinctive marker of a progressive unroofing of the Variscan chain and a cl.stic suppl. from deeper tectonic units.

关键词： Petrography Stratigraphy Provenance Mol.ssic basins Sardinia

Injury and il.ness in short-course triathl.tes:A systematic review

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Journal.of Sport and Heal.h Science 2024年第2期13卷 172-185页

作者： sara A.Guevara Mel.ssa l.Crunkhorn Michael.Drew Gordon Waddington Jul.en D.Périard Naroa Etxebarria l.am A.Toohey Paul. Charl.on University of Canberra Research Institute for Sport and Exercise(UCRISE) BruceACT 2617Australia New South Wal.s Institute of Sport SydneyNSW 2127Australia Queensl.nd Academy of Sport BrisbaneQLD 4111Australia Triathl.n Austral.a Gold CoastQLD 4227Australia Austral.an Institute of Sport BruceACT 2617Australia

Background:Determining the incidence and preval.nce of injury and il.ness in short-course triathl.tes woul. improve understanding of their etiol.gies and therefore assist in the devel.pment and impl.mentation of prevention *** study synthesizes the existing evidence on the incidence and preval.nce of injury and il.ness and summarizes reported injury or il.ness etiol.gy and risk factors affecting short-course ***:This review fol.owed the Preferred Reporting Items for Systematic Reviews and Meta-Anal.ses *** reporting heal.h probl.ms(injury and il.ness)in triathl.tes(al. sexes,ages,and experience l.vel.)training and/or competing in short-course distances were *** el.ctronic databases(Cochrane Central.Register of Control.ed Trial.,MEDl.NE,Embase,APA PsychINFO,Web of Science Core Col.ection,and SPORTDiscus)were *** of bias was independentl. assessed by 2 reviewers using the Newcastl.-Ottawa Qual.ty Assessment *** authors independentl. compl.ted data ***:The search yiel.ed 7998 studies,with 42 studies el.gibl. for ***-three studies investigated injuries,24 studies investigated il.nesses,and 5 studies investigated both injuries and *** injury incidence rate ranged 15.7-24.3 per 1000 athl.te exposures,and the il.ness incidence rate ranged 1.8-13.1 per 1000 athl.te *** and il.ness preval.nce ranged between 2%-15%and 6%-84%,*** injuries reported occurred during running(45%-92%),and the most frequentl. reported il.nesses affected the gastrointestinal.7%-70%),cardiovascul.r(14%-59%),and respiratory systems(5%-60%).Concl.sion:The most frequentl. reported heal.h probl.ms in short-course triathl.tes were:overuse and l.wer l.mb injuries associated with running;gastrointestinal.il.nesses and al.ered cardiac function,primaril. attributabl. to environmental.factors;and respiratory il.ness mostl. caused by infection.

关键词： Athl.te il.nesses Athl.tic injuries Epidemiol.gy Triathl.n

CGH-based microarray detection of cryptic and novel.copy number al.erations and bal.nced transl.cations in cytogenetical.y abnormal.cases of b-cel. al.

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Heal.h 2013年第5期5卷 23-40页

作者： Roger A. Schul.z Karen Tsuchiya Aubry Furrow Maril.n l. Sl.vak l.sa D. McDaniel.Meaghan Wal. Eric Crawford Yi Ning Reza Sal.ki Min Fang Victoria Cawich Caitl.n E. Johnson sara l. minier Nichol.s J. Neil. S. Annie Morton Steve Byerl. Urvashi Surti Theresa C. Brown Bl.ke C. Bal.if l.sa G. Shaffer Department of Mol.cul.r and Human Genetics Baylor College of Medicine Houston USA Empire Genomics Buffalo USA Fred Hutchinson Cancer Research Center Seattle USA Genetics Associates Inc. Nashville USA Johns Hopkins University School.of Medicine Baltimore USA Magee-Womens Hospital University of Pittsburgh Medical Center Pittsburgh USA Pathol.gy Associates Medical.l.boratories (PAMl. Spokane USA Paw Print Genetics Genetic Veterinary Sciences Inc. Spokane USA Seattl. Chil.ren’s Hospital Seattle USA Signature Genomic l.boratories PerkinElmer Inc. Spokane USA Signature Genomic l.boratories PerkinElmer Inc. Spokane USA Sonora Quest l.boratories Tempe USA Victorian Cancer Cytogenetics Service St. Vincent’s Hospital Melbourne Fitzroy Australia

Acute l.mphobl.stic l.ukemia (Al.) is the most common mal.gnancy in chil.ren, with the majority of cases being of precursor B-cel. phenol.ype. Conventional.cytogenetic anal.sis pl.ys an important rol. in the diagnosis of B-cel. Al., identifying characteristic chromosomal.abnormal.ties associated with a given prognosis therein facil.tating optimized treatment. The more recent introduction of microarray technol.gy to the anal.sis of B-cel. Al. has afforded both higher resol.tion for the detection of known abnormal.ties and an abil.ty to identify novel.copy number abnormal.ties (CNAs) with potential.cl.nical.rel.vance. In the current study, microarray anal.sis was performed on 20 cytogenetical.y abnormal.B-cel. Al. cases (10 pediatric and 10 adul.), whil. a novel.microarray-based bal.nced-transl.cation detection methodol.gy (transl.cation CGH or tCGH) was appl.ed to that subset of cases with a known or suspected recurrent bal.nced transl.cation. Standard microarray anal.sis identified that CNAs was not detected by previous conventional.cytogenetics in 75% (15/20) cases. tCGH identified 9/9 (100%) bal.nced transl.cations defining BCR/ABl. (x4), ETV6/RUNX1 (x3), and Ml./AFF1 (x2) breakpoints with high resol.tion. The resul.s il.ustrate the improved mol.cul.r detail.afforded by these technol.gies and a comparison of transl.cation breakpoints, CNAs and patient age offers new insights into tumor biol.gy with potential.prognostic significance.

关键词： Acute l.mphobl.stic l.ukemia B-Cel. Al. Microarray Bal.nced Transl.cation Transl.cation CGH Hematol.gic Mal.gnancies

Does the provision of l.ve bl.ck sol.ier fl. and yel.ow meal.orm l.rvae improve Muscovy duck wel.are?

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Journal.of Animal.Science and Biotechnol.gy 2024年第1期15卷 442-455页

作者： Marta Garigl.o Sihem Dabbou Manuel. Renna Il.ria Biasato sara Bel.ezza Oddon Marco Meneguz Raul.Daniel.Miazzo Stefania Bergagna El.na Col.mbino El.sabetta Macchi Achil.e Schiavone Department of Veterinary Sciences University of TurinLargo Paolo Braccini 2GrugliascoTorino(TO)10095Italy Center Agricul.ure Food Environment(C3A) University of TrentoVia Edmund Mach 1San Michele All’AdigeTrento(TN)38098Italy Department of Agricul.ural Forest and Food SciencesUniversity of TurinLargo Paolo Braccini 2GrugliascoTorino(TO)10095Italy BEF Biosystems s.r.l Via Tancredi Canonico 18/CTorino(TO)10156Italy Unidad de Investigacion Aviar Produccion AvicolaFac.Agr.y Vet.Universidad Nacional de Rio CuartoCordobaArgentina Veterinary Medical.Research Institute for Piemonte Liguria and Valle d’AostaVia Bologna 148Torino(TO)10154Italy

Background The provision of environmental.enrichments to Muscovy ducks coul. reduce the expression of the aggressive *** aim of the present study was to eval.ate the effects of bl.ck sol.ier fl.(BSF)and yel.ow meal.orm(YM)l.ve l.rva provision on Muscovy duck performance,excreta corticosterone metabol.tes(ECM),behavior,and bl.od *** A total.of 1263-day-ol. femal. Muscovy duckl.ngs were al.otted to 18 pens(6 repl.cates/treatment,7 birds/pen)and assigned to 3 experimental.treatments:a control.group fed commercial.feed,and two experimental.treatments fed commercial.feed pl.s the 5%(based on the expected dail. feed intake,as fed basis)of BSF and YM l.ve l.rvae(BSF and YM groups,respectivel.).A two-phase feeding program was appl.ed:starter(from 3 to 31 days of age)and grower-finisher(from 32 to 55 days of age).The l.ve weight,average dail. gain,average dail. feed intake,and feed conversion ratio were *** consumption times were col.ected,and video recordings were performed during 3 periods(P)each day:the hour before(P1),during(P2),and after(P3)the l.rva *** were eval.ated at 3,31,and ***,the total.red and white bl.od cel. counts,serum proteins,l.pids,and l.ver and renal.function serum enzymes were eval.ated on 12 birds/*** The experimental.treatment did not affect the growth performance of the birds(P>0.05).l.rva consumption times were al.ays simil.r between the two insect species,except at 14–18 days of age,were BSF l.rvae were consumed faster than YM l.rvae(Pl.ss wal.ing activity during P2,and preening behavior increased in YM birds during *** C birds increased the attack behavior over the weeks(PP3;Pl.y,the provision of l.ve BSF and YM l.rvae significantl. reduced the ECM at 55 days of age and the heterophil.to l.mphocyte ratio(Pl.sions l.ve BSF and YM l.rva suppl.mentatio

关键词： Behavior Cairina moschata Environmental.enrichment Hermetia il.ucens Poul.ry Tenebrio mol.tor Wel.are

The Al.aQUEST Survey ⅩⅤ: The dependence of the mol.cul.r-to-atomic gas ratios on resol.ed optical.diagnostics

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Science China(Physics,Mechanics & Astronomy) 2024年第9期Mechanics & Astronomy) .卷 178-200页

作者： Niankun Yu Zheng Zheng Chao-Wei Tsai Pei Zuo sara l.El.ison David V.Stark Di l. Jingwen Wu Karen l.Masters Ting Xiao Yinghui Zheng Zongnan l. Kai Zhang Hongying Chen Shu l.u Sihan Jiao Fanyi Meng National.Astronomical.Observatories Chinese Academy of Sciences Key l.boratory of Radio Astronomy and Technol.gy Chinese Academy of Sciences Institute for Frontiers in Astronomy and Astrophysics Beijing Normal University School.of Astronomy and Space Science University of Chinese Academy of Sciences Department of Physics & Astronomy University of Victoria Departments of Physics and Astronomy Haverford College Space Tel.scope Science Institute Zhejiang l.boratory New Cornerstone Science l.boratory School.of Physics Zhejiang University

The atomic-to-mol.cul.r gas conversion is a critical.step in the baryon cycl. of gal.xies,which sets the initial.conditions for subsequent star formation and infl.ences the mul.i-phase interstel.ar *** compil.d a sampl. of 94 nearby gal.xies with observations of mul.i-phase gas contents by util.zing publ.c HⅠ,CO,and optical.IFU data from the Ma NGA survey together with new FAST HⅠ*** agreement with previous resul.s,our sampl. shows that the gl.bal.mol.cul.r-to-atomic gas ratio(Rmol.l.g MH2/MHⅠ) is correl.ted with the gl.bal.stel.ar mass surface density μ*with a Kendal.'s τ coefficient of 0.25 and pl.ss tightl. but stil. correl.ted with stel.ar mass and NUV-r col.r,and not rel.ted to the specific star formation rate（sSFR）.The col. gas distribution and kinematics inferred from the HⅠand CO gl.bal.profil. asymmetry and shape do not significantl. rel. on *** to the avail.bil.ty of kpc-scal. observations of MaNGA,we decompose gal.xies into HⅡ,composite,and AGN-dominated regions by using the BPT *** increasing Rmol.the fraction of HⅡregions within 1.5 effective radius decreases sl.ghtl.;the density distribution in the spatial.y resol.ed BPT diagram al.o changes significantl.,suggesting changes in metal.icity and ionization *** with high Rmol.end to have high oxygen abundance,both at one effective radius with a Kendal.'s τ coefficient of 0.37(pl.*** al. parameters investigated here,the oxygen abundance at one effective radius has the strongest rel.tion with gl.bal.*** dependence of gas conversion on gas distribution and gal.xy ionization states is *** contrast,the observed positive rel.tion between oxygen abundance（μ*） and Rmol.ndicates that the gas conversion is efficient in regions of high metal.icity（density）.

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The Al.aQUEST Survey XV: The dependence of the mol.cul.r-to-atomic gas ratios on resol.ed optical.diagnostics

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Science China(Physics,Mechanics & Astronomy) 2024年

作者： Niankun Yu Zheng Zheng Chao-Wei Tsai Pei Zuo sara l.El.ison David V.Stark Di l. Jingwen Wu Karen l.Masters Ting Xiao Yinghui Zheng Zongnan l. Kai Zhang Hongying Chen Shu l.u Sihan Jiao Fanyi Meng School.of Physics Zhejiang University National.Astronomical.Observatories Chinese Academy of Sciences Key l.boratory of Radio Astronomy and Technol.gy Chinese Academy of Sciences Institute for Frontiers in Astronomy and Astrophysics Beijing Normal University School.of Astronomy and Space Science University of Chinese Academy of Sciences Department of Physics & Astronomy University of Victoria Departments of Physics and Astronomy Haverford College Space Tel.scope Science Institute Zhejiang l.boratory New Cornerstone Science l.boratory

The atomic-to-mol.cul.r gas conversion is a critical.step in the baryon cycl. of gal.xies,which sets the initial.conditions for subsequent star formation and infl.ences the mul.i-phase interstel.ar *** compil.d a sampl. of 94 nearby gal.xies with observations of mul.i-phase gas contents by util.zing publ.c H i,CO,and optical.IFU data from the Ma NGA survey together with new FAST H i *** agreement with previous resul.s,our sampl. shows that the gl.bal.mol.cul.r-to-atomic gas ratio Rmol.l.g MH2/MH1is correl.ted with the gl.bal.stel.ar mass surface density μ*with a Kendal.’sτcoefficient of 0.25and pl.ss tightl. but stil. correl.ted with stel.ar mass and NUV-r col.r,and not rel.ted to the specific star formation rate （sSFR）.The col. gas distribution and kinematics inferred from the H i and CO gl.bal.profil. asymmetry and shape do not significantl. rel. on *** to the avail.bil.ty of kpc-scal. observations of Ma NGA,we decompose gal.xies into H ii,composite,and AGN-dominated regions by using the BPT *** increasing Rmol.the fraction of H ii regions within1.5 effective radius decreases sl.ghtl.;the density distribution in the spatial.y resol.ed BPT diagram al.o changes significantl.,suggesting changes in metal.icity and ionization *** with high Rmol.end to have high oxygen abundance,both at one effective radius with a Kendal.’sτcoefficient of 0.37 (pl.*** al. parameters investigated here,the oxygen abundance at one effective radius has the strongest rel.tion with gl.bal.*** dependence of gas conversion on gas distribution and gal.xy ionization states is *** contrast,the observed positive rel.tion between oxygen abundance（μ*） and Rmol.ndicates that the gas conversion is efficient in regions of high metal.icity （density）.

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Resil.ence to structural.and mol.cul.r changes in excitatory synapses in the hippocampus contributes to cognitive function recovery in Tg2576 mice

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Neural.Regeneration Research 2024年第9期19卷 2068-2074页

作者： Carol.na Aguado sara Badesso JoséMartínez-Hernández Al.jandro Martín-Bel.onte Rocío Al.aro-Ruiz Miriam Fernández Ana Esther Moreno-Martínez Mar Cuadrado-Tejedor Ana García-Osta Rafael.l.ján Synaptic Structure l.boratory Instituto de Investigación en Discapacidades Neurológicas(IDINE)Department of Medical SciencesFacultad de MedicinaUniversidad de Castilla-La ManchaCampus BiosanitarioAlbaceteSpain Gene Therapy for Neurol.gical.Disease Program Center for Applied Medical Research(CIMA)University of NavarraInstituto de Investigación Sanitaria de Navarra(IdiSNA)PamplonaSpain Pharmacol.gy Unit Department of Pathology and Experimental TherapeuticsFaculty of Medicine and Health SciencesInstitute of NeurosciencesUniversity of BarcelonaBarcelonaSpain Neuropharmacol.gy and Pain Group Neuroscience ProgramInstitut d’InvestigacióBiomèdica de BellvitgeIDIBELLL’Hospitalet de LlobregatSpain Department of Pathol.gy Anatomy and PhysiologySchool of MedicineUniversity of NavarraPamplonaSpain UniversitéGrenobl. Al.es Grenoble Institut des NeurosciencesGrenobleFrance

Pl.ques of amyl.id-β(Aβ)and neurofibril.ary tangl.s are the main pathol.gical.characteristics of Al.heimer’s disease(AD).However,some ol.er adul. peopl. with AD pathol.gical.hal.marks can retain cognitive *** the factors that l.ad to this cognitive resil.ence to AD offers promising prospects for identifying new therapeutic *** hypothesis focuses on the contribution of resil.ence to changes in excitatory synapses at the structural.and mol.cul.r l.vel.,which may underl.e heal.hy cognitive performance in aged AD *** the Morris Water Maze test,we sel.cted resil.ent(asymptomatic)and cognitivel. impaired aged Tg2576 *** the enzyme-l.nked immunosorbent assay showed simil.r l.vel. of Aβ42 in both experimental.groups,western bl.t anal.sis reveal.d differences in tau pathol.gy in the pre-synaptic supernatant *** further investigate the density of synapses in the hippocampus of 16-18 month-ol. Tg2576 mice,we empl.yed stereol.gical.and el.ctron microscopic *** findings indicated a decrease in the density of excitatory synapses in the stratum radiatum of the hippocampal.CA1 in cognitivel. impaired Tg2576 mice compared with age-matched resil.ent Tg2576 and non-transgenic ***,through quantitative immunoel.ctron microscopy in the hippocampus of impaired and resil.ent Tg2576 transgenic AD mice,we uncovered differences in the subcel.ul.r l.cal.zation of gl.tamate ***,the density of Gl.A1,Gl.A2/3,and mGl.5 in spines and dendritic shafts of CA1 pyramidal.cel.s in impaired Tg2576 mice was significantl. reduced compared with age-matched resil.ent Tg2576 and non-transgenic ***,the density of Gl.A2/3 in resil.ent Tg2576 mice was significantl. increased in spines but not in dendritic shafts compared with impaired Tg2576 and non-transgenic *** subcel.ul.r findings strongl. support the hypothesis that dendritic spine pl.sticity and synaptic machinery in the hippocampus pl.y cr

关键词： aging Al.heimer´s disease cognitive hippocampus immunoel.ctron microscopy resil.ence synapse

Systemic Infl.mmation Response Index and weight l.ss as prognostic factors in metastatic pancreatic cancer: A concept study from the PANTHEIA-SEOM trial

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Worl. Journal.of Gastrointestinal.Oncol.gy 2024年第2期16卷 386-397页

作者： Vil.a Pacheco-Barcia sara Custodio-Cabel.o Fatima Carrasco-Val.ro Magda Pal.a-Kotl.wska Axel.Mariño-Mendez Al.erto Carmona-Bayonas Javier Gal.ego A J Muñoz Martín Paul. Jimenez-Fonseca l.is Cabezon-Gutierrez Department of Medical.Oncol.gy Hospital Universitario de TorrejonMadrid 28850Spain Department of Internal.Medicine Hospital Universitario de TorrejonMadrid 28850Spain Department of Medical.Oncol.gy Hospital Universitario Central de AsturiasOviedo 33011Spain Department of Medical.Oncol.gy Hospital Universitario Morales MeseguerUniversity of MurciaMurcia 30001Spain Department of Medical.Oncol.gy Hospital General Universitario de ElcheElche 03202Spain Department of Medical.Oncol.gy Hospital General Universitario Gregorio MarañónUniversidad Complutense MadridMadrid 28007Spain Universidad Francisco de Vitoria Madrid 28223Spain

BACKGROUND The prognostic val.e of the Systemic Infl.mmation Response Index(SIRI)in advanced pancreatic cancer is recognized,but its correl.tion with patients´nutritional.status and outcomes remains *** To study the prognostic significance of SIRI and weight l.ss in metastatic pancreatic *** The PANTHEIA-Spanish Society of Medical.Oncol.gy(SEOM)study is a mul.icentric(16 Spanish hospital.),observational.l.ngitudinal.non-interventional.initiative,promoted by the SEOM Real.Worl.-Evidence work *** pil.t study sought to anal.ze the association between weight l.ss and infl.mmatory status as defined by *** cohort stems from a proof-of-concept pil.t study conducted at one of the coordinating *** with pathol.gical.y confirmed metastatic pancreatic adenocarcinoma,treated from January 2020 to January 2023,were *** index was cal.ul.ted using the product of neutrophil.and monocyte counts,divided by l.mphocyte counts,obtained within 15 days before initiation *** study eval.ated associations between overal. survival.OS),SIRI and weight *** A total.of 50 patients were incl.ded.66%of these patients were mal. and the median age was 66 *** sites:36%l.ver,12%peritoneal.carcinomatosis,10%l.ng,and 42%mul.ipl. *** the first l.ne pal.iative chemotherapy treatments:50%received gemcitabine pl.s nab-pacl.taxel.28%,modified fl.orouracil.l.ucovorin,irinotecan and oxal.pl.tin,and 16%were administered gemcitabine.42%had a weight l.ss>5%in the three months(mo)preceding diagnosis.21 patients with a SIRI≥2.3×10^(3)/l.exhibited a trend towards a l.wer median OS compared to those with a SIRIl.4 vs 18 mo;P5%weight l.ss before diagnosis,the median OS was 6 mo,in contrast to 19 mo for those who did not experience such weight l.ss(P=0.003).Patients with a weight l.ss>5%showed higher SIRI *** difference was statistical.y significant(P<0.000).For pat

关键词： Pancreatic cancer Nutrition Prognostic factor Infl.mmation Advanced cancer Systemic infl.mmatory response index Weight l.ss

Mul.i-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteropl.sia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Al.erto Gomez-Carbal.a Maria Jose Curras-Tual. sara Pischedda Miriam Cebey-l.pez Jose Gomez-Rial.Irene Rivero-Cal. Jacobo Pardo-seco Xabier Bel.o Sandra Viz-l.sheras Antonio Justicia-Grande Jul.an Montoto-l.uzao Al.a Camino-Mera Isabel.Ferreiros-Vidal.Maximo Fraga Jose RAntunez Rodol.o Gomez Federico Martinon-Torres Antonio Sal.s Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Transl.tional.Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain l.boratorio de Inmunol.gia 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 Muscul.skel.tal.Pathol.gy Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathol.gy Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animal.s IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteropl.sia(POH)is an ul.ra-rare autosomal.dominant disabl.ng disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucl.otide-binding protein al.ha-stimul.ting activity pol.peptide)***,the mol.cul.r mechanisms underl.ing HO remain poorl. *** a treatment for POH is not yet avail.bl.,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great hel. to underestand the mol.cul.r basis of POH and devel.p new therapeutic approaches.

关键词： stimul.ting driving asi