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Exploring the genetic control of sweat gland characteristics in beef cattle for enhanced heat tolerance

Journal of Animal Science and Biotechnology 2024年第5期15卷 1820-1831页

作者： Aakilah S.Hernandez Gabriel A.Zayas Eduardo E.Rodriguez Kaitlyn M.Sarlo Davila Fahad Rafiq andrea N.Nunez Cristiane Goncalves Titto Raluca G.Mateescu Department of Animal Science North Carolina State UniversityRaleighNCUSA Department of Animal Sciences University of FloridaGainesvilleFLUSA. Ruminant Diseases and Immunology Research Unit National Animal Disease CentersUnited States Department of Agriculture1920 Dayton AvenueAmesIA 50010USA. Department of Animal Science Iowa StateAmesIAUSA School of Animal Sciences and Food Engineering University of Sao PauloAv Duque de Caxias Norte 225PirassunungaSao Paulo 13635‑900Brazil

Background Thermal stress in subtropical regions is a major limiting factor in beef cattle production systems with around$369 million being lost annually due to reduced *** stress causes numerous physiological and behavioral disturbances including reduced feed intake and decreased production *** utilize various physiological mechanisms such as sweating to regulate internal *** in these traits can help identify genetic variants that control sweat gland properties and subsequently allow for genetic selection of cattle with greater *** This study used 2,401 Brangus cattle from two commercial ranches in *** phenotypes that contribute to an animal's ability to manage heat stress were calculated from skin biopsies and included sweat gland area,sweat gland depth,and sweat gland *** animals were genotyped with the Bovine GGP F250K,and BLUPF90 software was used to estimate genetic parameters and for Genome Wide Association *** Sweat gland phenotypes heritability ranged from 0.17 to 0.42 indicating a moderate amount of the phenotypic variation is due to genetics,allowing producers the ability to select for favorable sweat gland properties.A weighted single-step GWAS using sliding 10 kb windows identified multiple quantitative trait loci(QTLs)explaining a significant amount of genetic *** located on BTA7 and BTA12 explained over 1.0%of genetic variance and overlap the ADGRV1 and CCDC168 genes,*** variants identified in this study are implicated in processes related to immune function and cellular proliferation which could be relevant to heat *** of Origin Alleles(BOA)were predicted using local ancestry in admixed populations(LAMP-LD),allowing for identification of markers'origin from either Brahman or Angus ancestry.A BOA GWAS was performed to identify regions inherited from particular ancestral breeds that might have a significant impact on sweat gland pheno

关键词： GWAS Heritability Skin Thermotolerance

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Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients:a rare occurrence?

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Neural Regeneration Research 2025年第1期20卷 130-138页

作者： Ilaria Martinelli Jessica Mandrioli andrea Ghezzi Elisabetta Zucchi Giulia Gianferrari Cecilia Simonini Francesco Cavallieri Franco Valzania Department of Neurosciences Azienda Ospedaliero Universitaria di ModenaModenaItaly Clinical and Experimental Medicine Ph.D.Program University of Modena and Reggio EmiliaModenaItaly Department of Biomedical Metabolic and Neural SciencesUniversity of Modena and Reggio EmiliaModenaItaly Neurology Unit Neuromotor&Rehabilitation DepartmentAzienda USL-IRCCS di Reggio EmiliaReggio EmiliaItaly

Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal *** the typical clinical phenotype of ALS involves both upper and lower motor neurons,human and animal studies over the years have highlighted the potential spread to other motor and non-motor regions,expanding the phenotype of *** superoxide dismutase 1(SOD1)mutations represent a minority of ALS cases,the SOD1 gene remains a milestone in ALS research as it represents the first genetic target for personalized *** numerous single case reports or case series exhibiting extramotor symptoms in patients with ALS mutations in SOD1(SOD1-ALS),no studies have comprehensively explored the full spectrum of extramotor neurological manifestations in this *** this narrative review,we analyze and discuss the available literature on extrapyramidal and non-motor features during *** multifaceted expression of SOD1 could deepen our understanding of the pathogenic mechanisms,pointing towards a multidisciplinary approach for affected patients in light of new therapeutic strategies for SOD1-ALS.

关键词： amyotrophic lateral sclerosis(ALS) autonomic extramotor genotype-phenotype multisystem involvement Parkinson’s disease sensory SOD1 superoxide dismutase 1 urinary vocal cord palsy

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Identification of galectin-3 as a novel potential prognostic/predictive biomarker and therapeutic target for cerebral cavernous malformation disease

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Genes & Diseases 2024年第1期11卷 67-71页

作者： Souvik Kar andrea Perrelli Kiran Kumar Bali Raffaella Mastrocola Arpita Kar Bushra Khan Luis Gand Arnab Nayak Christian Hartmann Wolfram SKunz Amir Samii Helmut Bertalanffy Saverio Francesco Retta International Neuroscience Institute Rudolf-PichlmayrStrasse 4Hannover 30625Germany Department of Clinical and Biological Sciences University of TorinoOrbassano(TO)10043Italy CCM Italia Research Network National Coordination Center at the Department of Clinical and Biological SciencesUniversity of TorinoOrbassano(TO)10043Italy Department of Experimental Pain Research Mannheim Center for Translational Neuroscience(MCTN)Medical Faculty MannheimHeidelberg UniversityMannheim 68167Germany Department of Kidney Liver and Metabolic DiseasesChildren’s HospitalHannover Medical SchoolHannover 30625Germany Ricarda-Huch-Street-10B Hannover 30880Germany Institute of Molecular and Cell Physiology Hannover Medical SchoolHannover 30625Germany Department of Neuropathology Institute of PathologyHannover Medical SchoolHannover 30625Germany Institute of Experimental Epileptology and Cognition Research and Department of Epileptology University Hospital BonnVenusberg-Campus 1Bonn 53127Germany epartment of Pharmacology and Physiology University of Rochester Medical CenterRochesterNY 14642USA

cerebrovascular disease of genetic origin characterized by abnormally dilated capillaries and a wide spectrum of symptoms,including headaches,seizures,neurological deficits,and intracerebral *** unpredictable clinical course and the current lack of therapies make the identification of prognostic and predictive biomarkers an imperative research challenge.1 Herein,we provide evidence that galectin-3(Gal-3),a major tissue and circulating biomarker of oxidative stress and inflammation,is significantly up-regulated both in CCM patients and ***,wholetranscriptome sequencing,qRT-PCR,and Western blotting studies demonstrated a significant up-regulation of Gal-3 expression levels both in surgical CCM specimens and in blood samples of CCM patients.

关键词： inflammation cerebral dilated

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Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability:Insights from McArdle disease

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Journal of Sport and Health Science 2024年第3期13卷 398-408页

作者： Pedro L.Valenzuela Alfredo Santalla Lidia B.Alejo andrea Merlo Asuncion Bustos Laura Castellote-Belles Roser Ferrer-Costa Nicola A.Maffiuletti David Barranco-Gil Tomas Pinos Alejandro Lucia Physical Activity and Health Research Group(“PaHerg”) Research Institute of Hospital“12 de Octubre”(“imas12”)Madrid 28041Spain Department of Systems Biology University of AlcalaMadrid 28871Spain Department of Sport and Computer Science Section of Physical Education and SportsFaculty of SportUniversidad Pablo de OlavideSevilla 41013Spain EVOPRED Research Group Universidad Europea de CanariasTenerife 38300Spain Faculty of Sport Sciences Universidad Europea de MadridMadrid 28670Spain Gait&Motion Analysis Laboratory Sol et Salus HospitalTorre Pedrera di Rimini(RN)47922Italy Department of Clinical Biochemistry Laboratoris ClınicsHospital Universitari Vall d’HebronBarcelona 08035Spain Human Performance Lab Schulthess ClinicZurich 8008Switzerland Biomedical Research Networking Center on Rare Disorders(CIBERER) Barcelona 08035Spain Mitochondrial and Neuromuscular Disorders Unit Vall d’Hebron Institut de RecercaUniversitat Autonoma de BarcelonaBarcelona 08035Spain

Background:This study aimed to determine the effect of different carbohydrate(CHO)doses on exercise capacity in patients with McArdle disease—the paradigm of“exercise intolerance”,characterized by complete muscle glycogen unavailability—and to determine whether higher exogenous glucose levels affect metabolic responses at the McArdle muscle cell(in vitro)***:Patients with McArdle disease(n=8)and healthy controls(n=9)underwent a 12-min submaximal cycling constant-load bout followed by a maximal ramp test 15 min after ingesting a non-caloric *** a randomized,double-blinded,cross-over design,patients repeated the tests after consuming either 75 g or 150 g of CHO(glucose:fructose=2:1).Cardiorespiratory,biochemical,perceptual,and electromyographic(EMG)variables were ***,glucose uptake and lactate appearance were studied in vitro in wild-type and McArdle mouse myotubes cultured with increasing glucose concentrations(0.35,1.00,4.50,and 10.00 g/L).Results:Compared with controls,patients showed the“classical”second-wind phenomenon(after prior disproportionate tachycardia,myalgia,and excess electromyographic activity during submaximal exercise,all p<0.05)and an impaired endurance exercise capacity(-51%ventilatory threshold and55%peak power output,both p<0.001).Regardless of the CHO dose(p<0.05 for both doses compared with the placebo),CHO intake increased blood glucose and lactate levels,decreased fat oxidation rates,and attenuated the second wind in the ***,only the higher dose increased ventilatory threshold(+27%,p=0.010)and peak power output(+18%,p=0.007).In vitro analyses revealed no differences in lactate levels across glucose concentrations in wild-type myotubes,whereas a doseresponse effect was observed in McArdle ***:CHO intake exerts beneficial effects on exercise capacity in McArdle disease,a condition associated with total muscle glycogen *** of these benefits are dose dependent.

关键词： Endurance Glycogen storage disease Glycogenosis Nutrition Supplement

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Use of endoscopic ultrasound-guided gallbladder drainage as a rescue approach in cases of unsuccessful biliary drainage

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World Journal of Gastroenterology 2024年第1期30卷 70-78页

作者： Alessandro Fugazza Kareem Khalaf Katarzyna M Pawlak Marco Spadaccini Matteo Colombo Marta Andreozzi Marco Giacchetto Silvia Carrara Chiara Ferrari Cecilia Binda Benedetto Mangiavillano andrea Anderloni Alessandro Repici Division of Gastroenterology and Digestive Endoscopy Humanitas Research Hospital-IRCCSRozzano 20089MilanoItaly Division of Gastroenterology St.Michael’s HospitalUniversity of TorontoToronto M5B 1W8ONCanada Department of Anesthesia Humanitas Research Hospital-IRCCSRozzano 20089MilanoItaly Gastroenterology and Digestive Endoscopy Unit Forlì-Cesena HospitalsRomagna 47121Italy Gastrointestinal Endoscopy Unit Humanitas Mater DominiCastellanza 21100Italy Gastroenterology and Digestive Endoscopy Unit Fondazione IRCCS Policlinico San MatteoPavia 27100Italy

This narrative review provides an overview of the utilization of endoscopic ultrasound-guided gallbladder drainage(EUS-GBD)as a salvage approach in cases of unsuccessful conventional ***-GBD is a minimally invasive and effective technique for drainage in patients with acute cholecystitis with high risk of *** procedure has demonstrated impressive technical and clinical success rates with low rates of adverse events,making it a safe and effective option for appropriate ***,EUS-GBD can also serve as a rescue option for patients who have failed endoscopic retrograde cholangiopancreatography or EUS biliary drainage for relief of jaundice in malignant biliary ***,patient selection is critical for the success of EUS-GBD,and proper patient selection and risk assessment are important to ensure the safety and efficacy of the *** the field continues to evolve and mature,ongoing research will further refine our understanding of the benefits and limitations of EUS-GBD,ultimately leading to improved outcomes for patients.

关键词： Endoscopic ultrasound-guided gallbladder drainage Gallbladder drainage Acute cholecystitis Malignant obstruction Interventional endoscopic ultrasound Lumen-apposing metal stents

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Hordedane diterpenoid phytoalexins restrict Fusarium graminearum infection but enhance Bipolaris sorokiniana colonization of barley roots

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Molecular Plant 2024年第8期17卷 1307-1327页

作者： Yaming Liu Dario Esposto Lisa K.Mahdi andrea Porzel Pauline Stark Hidayat Hussain Anja Scherr-Henning Simon Isfort Ulschan.Bathe Ivan F.Acosta Alga Zuccaro Gerd U.Balcke Alain Tissier Department of Cell and Metabolic Biology Leibniz Institute of Plant BiochemistryHalleGermany Institute for Plant Sciences Cluster of Excellence on Plant Sciences(CEPLAS)Cologne BiocenterUniversity of CologneCologneGermany Department of Bioorganic Chemistry Leibniz Institute of Plant BiochemistryHalleGermany Max Planck Institute for Plant Breeding Research CologneGermany Horticultural Sciences University of FloridaGainesvilleFLUSA.

Plant immunity is a multilayered process that includes recognition of patterns or effectors from pathogens to elicit defense *** include the induction of a cocktail of defense metabolites that typically restrict pathogen ***,we investigate the interaction between barley roots and the fungal pathogens Bipolaris sorokiniana(Bs)and Fusarium graminearum(Fg)at the metabolite *** identify hordedanes,a previously undescribed set of labdane-related diterpenoids with antimicrobial properties,as critical players in these *** of barley roots by Bs and Fg elicits hordedane synthesis from a 60o-kb gene *** reconstruction of the biosynthesis pathway in yeast and Nicotiana benthamiana produced several hordedanes,including one of the most functionally decorated products 19-β-hydroxy-hordetrienoic acid(19-OH-HTA).Barley mutants in the diterpene synthase genes of this cluster are unable to produce hordedanes but,unexpectedly,show reduced Bs *** contrast,colonization by Fusarium graminearum,another fungal pathogen of barley and wheat,is 4-fold higher in the mutants completely lacking ***,19-OH-HTA enhances both germination and growth of Bs,whereas it inhibits other pathogenic fungi,including *** of microscopy and transcriptomics data suggest that hordedanes delay the necrotrophic phase of *** together,these results show that adapted pathogens such as Bs can subvert plant metabolic defenses to facilitate root colonization.

关键词： barley Hordeum vulgare diterpenoid phytoalexins gene cluster pathogenic fungi Bipolaris sorokininiana Fusarium graminearum

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High-throughput screening of novel TFEB agonists in protecting against acetaminopheninduced liver injury in mice

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Acta Pharmaceutica Sinica B 2024年第1期14卷 190-206页

作者： Xiaojuan Chao Mengwei Niu Shaogui Wang Xiaowen Ma Xiao Yang Hua Sun Xujia Hu Hua Wang Li Zhang Ruili Huang Menghang Xia andrea Ballabio Hartmut Jaeschke Hong-Min Ni Wen-Xing Ding Department of Pharmacology Toxicology and TherapeuticsUniversity of Kansas Medical CenterKansas CityKS 66160USA NMPA Key Laboratory for Research and Evaluation of Drug Metabolism&Guangdong Provincial Key Laboratory of New Drug Screening School of Pharmaceutical SciencesSouthern Medical UniversityGuangzhou 510515China Department of Oncology the First Affiliated Hospital of Anhui Medical UniversityAnhui Medical UniversityHefei 230032China National Center for Advancing Translational Sciences National Institutes of HealthBethesdaMD 20892USA Telethon Institute of Genetics and Medicine TIGEMPozzuoliNaples 80131Italy Medical Genetics Department of Translational MedicineFederico II UniversityNaples 80131Italy Department of Molecular and Human Genetics Baylor College of MedicineHoustonTX 77030USA Department of Internal Medicine Division of GastroenterologyHepatology&MotilityUniversity of Kansas Medical CenterKansas CityKS 66160USA

Macroautophagy(referred to as autophagy hereafter)is a major intracellular lysosomal degradation pathway that is responsible for the degradation of misfolded/damaged proteins and *** studies showed that autophagy protects against acetaminophen(APAP)-induced injury(AILI)via selective removal of damaged mitochondria and APAP protein *** lysosome is a critical organelle sitting at the end stage of autophagy for autophagic degradation via fusion with *** the present study,we showed that transcription factor EB(TFEB),a master transcription factor for lysosomal biogenesis,was impaired by APAP resulting in decreased lysosomal biogenesis in mouse *** loss-of and gain-of function of hepatic TFEB exacerbated or protected against AILI,***,overexpression of TFEB increased clearance of APAP protein adducts and mitochondria biogenesis as well as SQSTM1/p62-dependent non-canonical nuclear factor erythroid 2-related factor 2(NRF2)activation to protect against *** also performed an unbiased cell-based imaging high-throughput chemical screening on TFEB and identified a group of TFEB *** these agonists,salinomycin,an anticoccidial and antibacterial agent,activated TFEB and protected against AILI in *** conclusion,genetic and pharmacological activating TFEB may be a promising approach for protecting against AILI.

关键词： Autophagy DILI Drug screening Hepatotoxicity Lysosome Mitochondria Mitophagy NRF2

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Trans-Frame Aortic Regurgitation of New-Generation Aortic Bioprosthesis

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World Journal of Cardiovascular Surgery 2024年第4期14卷 41-44页

作者： Michael Timothy Simpson Kasmir Ramo Vinayak Bapat andrea Miltiades Isaac George Division of Cardiothoracic Surgery New York-Presbyterian Hospital Columbia University Medical Center New York USA Division of Cardiothoracic Anesthesia New York-Presbyterian Hospital Columbia University Irving Medical Center New York USA Division of Cardiothoracic Surgery Abbott Northwestern Hospital Minneapolis Heart Institute Minneapolis USA

A widely used aortic valve bioprosthesis is susceptible to regurgitation between the sewing ring and the frame of the valve due to its relatively thin fabric coverage. In some cases this leak has been shown to resolve with administration of protamine, however, tension on this area from annular sutures placed in an asymmetric bicuspid valve annulus may exacerbate the defect.

关键词： Aortic Valve Replacement Bicuspid Aortic Valve Paravalvular Leak

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Two-step exhumation of Caucasian intraplate rifts:A proxy of sequential plate-margin collisional orogenies

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Geoscience Frontiers 2024年第2期15卷 68-84页

作者： William Cavazza Thomas Gusmeo Massimiliano Zattin Victor Alania Onise Enukidze Sveva Corrado andrea Schito Department of Biological Geologicaland Environmental SciencesUniv.of BolognaItaly Department of Geosciences Univ.of PaduaItaly Institute of Geophysics I.Javakhishvili State UniversityTbilisiGeorgia Department of Sciences Roma Tre UniversityRomeItaly Department of Geology and Geophysics Univ.of AberdeenUnited Kingdom

Intraplate structural deformation is diagnostic of tectonic stress regime changes linked to plate interactions and can result from superposed tectonic events whose single contributions are hardly *** this paper,we present a set of integrated thermochronologic inverse models along a 140 km-long transect across the central Greater Caucasus and the adjacent Adjara-Trialeti fold-and-thrust belt of Georgia,two intraplate orogens produced by structural inversion of parallel continental rift zones located on the Eurasian *** dataset allows to distinguish discrete and superposed deformation episodes and quantify their respective contributions to orogenic *** integration of(U-Th)/He analysis on apatite and zircon,fission-track analysis on apatite,and peak-temperature determinations(clay mineralogy,organic matter petrography,Raman spectroscopy)shows that structural inversion was punctuated by two incremental steps starting respectively in the latest Cretaceous and the *** Cretaceous partial inversion of the Greater Caucasus is documented here for the first time and placed in a geographically wider context of coeval *** two episodes of intraplate structural inversion,exhumation,and sediment generation are chronologically and physically correlated with docking of(i)the Anatolide-Tauride-Armenian terrane(Late Cretaceous-Paleocene)and(ii)Arabia(Miocene hard collision)against the southern Eurasian plate *** deformation in the Caucasian domain was triggered by far-field propagation of plate-margin collisional stress which focused preferentially along rheologically weak rift zones.

关键词： Intraplate deformation Far-field tectonics Greater Caucasus Structural reactivation Terrane accretion

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The challenge of molecular selection in liver-limited metastatic colorectal cancer for surgical resection: a systematic review and meta-analysis in the context of current and future approaches

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Oncology Research 2024年第9期32卷 1407-1422页

作者： ROSSANA RONCATO JERRY POLESEL FEDERICA TOSI ELENA PERUZZI ERIKA BRUGUGNOLI CLAUDIA LAURIA PANTANO MARIA FURFARO FILIPPO DI GIROLAMO ALESSANDRO NANI ARIANNA PANI NOEMI MILAN ELENA DE MATTIA andrea SARTORE-BIANCHI ERIKA CECCHIN Experimental and Clinical Pharmacology Unit Centro di Riferimento Oncologico di Aviano(CRO)IRCCSAviano33081Italy Department of Medicine(DMED) University of UdineUdine33100Italy Unit of Cancer Epidemiology Centro di Riferimento Oncologico di Aviano(CRO)IRCCSAviano33081Italy Department of Oncology and Hemato-Oncology Universitàdegli Studi di MilanoMilan20122Italy Department of Hematology Oncologyand Molecular MedicineGrande Ospedale Metropolitano NiguardaMilan20122Italy Oncology Pharmacy Unit IRCCS Istituto Romagnolo per lo Studio dei Tumori Dino AmadoriMeldola47014Italy Pharmacy Unit Fondazione IRCCS Istituto Tumori di MilanoMilan20122Italy Department of Pharmacy Ca’Foncello Treviso Regional HospitalPiazzale Ospedale 1Treviso31100Italy Department of Medical Surgical and Health Sciences University of TriesteTrieste34127Italy Hospital Pharmacy Cattinara HospitalAzienda Sanitaria Universitaria Giuliano IsontinaTrieste34148Italy Department of Oncology and Onco-Hematology Postgraduate School of Clinical Pharmacology and ToxicologyUniversity of MilanMilan20122Italy

Objectives:Treatment of metastatic colorectal cancer(mCRC)includes resection of liver metastases(LM),however,no validated biomarker identifies patients most likely to benefit from this *** meta-analysis aimed to assess the impact of the most relevant molecular alterations in cancer-related genes of CRC(i.e.,RAS,BRAF,SMAD4,PIK3CA)as prognostic markers of survival and disease recurrence in patients with mCRC surgically treated by LM ***:A systematic literature review was performed to identify studies reporting data regarding survival and/or recurrence in patients that underwent complete liver resection for CRC LM,stratified according to RAS,BRAF,PIK3CA,and SMAD4 mutational *** ratios(HRs)from multivariate analyses were pooled in the meta-analysis and various adjustment strategies for confounding factors were *** search was conducted in numerous databases,including MEDLINE(PubMed),Embase,Cumulative Index to Nursing and Allied Health Literature(CINAHL)(EBSCO host),and WHO Global Index Medicus,through March 18th,***-analyses,editorials,letters to the editor,case reports,studies on other primary cancers,studies with primary metastatic sites other than the liver,studies lacking specific oncological outcome variables or genetic data,non-English language studies,and studies omitting residual disease data from liver metastasectomy were *** remaining 47 studies were summarized in a descriptive table which outlines the key characteristics of each study and final results were graphically ***:RAS mutation status was negatively associated with overall survival(OS)(HR,1.68;95%CI,1.54–1.84)and recurrence free survival(RFS)(HR,1.46;95%CI,1.33–1.61).A negative association was also found for BRAF regarding OS(HR,2.64;95%CI,2.15–3.24)and RFS(HR,1.89;95%CI,1.32–2.73)and SMAD4 regarding OS(HR,1.93;95%CI,1.56–2.38)and RFS(HR,1.95;95%CI,1.31–2.91).For PIK3CA only three studies were eligible and no significant associati

关键词： Metastasectomy Liver metastases RAS BRAF SMAD4 PIK3CA Colorectal

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