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Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil

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Reproductive and Developmental Medicine 2022年第2期6卷 92-97页

作者： Mariana Lopes dos Santos Devora Natalia Randon fernanda Hendges de Bitencourt fernanda Sperb-Ludwig fernanda sales luiz vianna Carmen Regia Vargas Angela Sitta Ida Vanessa Doederlein Schwartz Postgraduate Program in Medicine:Medical Sciences(PPGCM) Universidade Federal do Rio Grande do Sul(UFRGS)Porto AlegreRSBrazil Laboratory of Basic Research and Advanced Investigations in Neurosciences(BRAIN) Experimental Research ServiceHospital de Clinicas de Porto AlegrePorto AlegreRSBrazil Postgraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul(UFRGS)Porto AlegreRSBrazil INaGEMP Instituto Nacional de Genetica Medica PopulacionalHospital de Clinicas de Porto AlegrePorto AlegreRSBrazil Laboratory of Genomic Medicine Experimental Research ServiceHospital de Clinicas de Porto AlegrePorto AlegreRSBrazil Servico de Genetica Medica(SGM) Hospital de Clinicas de Porto AlegrePortoAlegreRSBrazil Genetics Department Universidade Federal do Rio Grande do Sul(UFRGS)Porto AlegreRSBrazil

Objectives::To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods::This was an observational cross-sectional study with a convenience sampling strategy. The participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199T>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy-Weinberg ***::The c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency= 0.0015, minimum frequency of MCADD= 1:444,444) whose acylcarnitine profiles were within normal limits. The c.199T>C variant was not ***::Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. This study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.

关键词： ACADM Medium-chain acyl-CoA dehydrogenase deficiency Sudden unexpected death in infancy

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Filtering cylindrical–conical hydrocyclone

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Particuology 2019年第6期17卷 54-62页

作者： fernanda FSalvador Marcos ASBarrozo luiz GMVieira Federal University of Espírito Santo Center of Agricultural Sciences and EngineeringDepartment of Rural EngineeringZIP Code:29500-000AlegreESBrazil Federal University of Uberlândia Chemical Engineering SchoolBlock 1 KCampus Santa MônicaZIP Code:38400-902UberlândiaMGBrazil

Hydrocyclones have versatile applications in various industrial *** functionn on the principle of centrifugal separation to remove a dispersed phase(particles or drops)from a continuous phase(fluid).In unconventional filtering hydrocyclones,the separation efficiency and energy costs have been improved by combining filtration with centrifugal *** work investigated experimentally the effect of incorporating a cylinder and a porous cone in a conventional *** also evaluated the effects of the main geometric dimensions of the separator on the hydrocyclone performance.A differential-evolution algorithm was applied to optimize the hydrocyclone performance,which was represented as the maximum total efficiency and minimum Euler *** experimental results validated the optimization results and showed that hydrocyclones with optimized geometries exhibited higher total efficiencies(89.59%)and lower Euler numbers(582)than hydrocyclones with other experimental configurations.

关键词： Solid–liquid separation Hydrocyclone Filtration Differential evolution

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Mindfulness training in medical education as a means to improve resilience,empathy,and mental health in the medical profession

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World Journal of Psychiatry 2024年第4期14卷 489-493页

作者： Edison Iglesias de Oliveira Vidal luiz Fernando Alvarenga Ribeiro Marco Antonio de Carvalho-Filho fernanda Bono Fukushima Internal Medicine Department Botucatu Medical SchoolSao Paulo State University(UNESP)Botucatu 18618-687SPBrazil Wenckebach Institute for Education and Training LEARN-Lifelong LearningEducation and Assessment Research NetworkUniversity Medical Center GroningenGroningen 9713AVGroningenNetherlands Assertiva Mindfulness Botucatu 18603-970SPBrazil Surgical Specialties and Anesthesiology Department Botucatu Medical SchoolSão Paulo State University(UNESP)Botucatu 18618-687SPBrazil

The high rates of depression,burnout,and increased risk of suicide among medical students,residents,and physicians in comparison with other careers signal a mental health crisis within our *** contend that this crisis coupled with the inadequate acquisition of interpersonal skills during medical education results from the interaction between a challenging environment and the mental capital of ***,we posit that mindfulness-based practices are instrumental for the development of major components of mental capital,such as resilience,flexibility of mind,and learning skills,while also serving as a pathway to enhance empathy,compassion,self-awareness,conflict resolution,and relational ***,the evidence base supporting the effectiveness of mindfulness-based interventions has been increasing over the years,and a growing number of medical schools have already integrated mindfulness into their *** we acknowledge that mindfulness is not a panacea for all educational and mental health problems in this field,we argue that there is currently an unprecedented opportunity to gather momentum,spread and study mindfulness-based programs in medical schools around the world as a way to address some longstanding shortcomings of the medical profession and the health and educational systems upon which it is rooted.

关键词： Mindfulness Medical education Mental capital Mental health Medical students Resilience

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Prenatal and pubertal testosterone exposure imprint permanent modifications in the prostate that predispose to the development of lesions in old Mongolian gerbils

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Asian Journal of Andrology 2017年第2期19卷 160-167页

作者： Manoel F Biancardi Ana PS Perez Cassia RS Caires luiz R Falleiros Jr Rejane M Goes Patricia SL Vilamaior Diogenes R Freitas Jr fernanda CA Santos Sebastiao R Taboga Department of Structural and Functional State University of Campinas Av. Bertrand Russel s/n Campinas Sao Paulo 13084864 Brazil 2Department of Histology Embryology and Cell BiologyFederal University of Goias Samambaia II Goiania Goias 74001970 Brazil University Estadual Paulista - UNESP Department of Biology Laboratory of Microscopy and Microanalysis Rua Cristovao Colombo 2265 Sao Jose do Rio Preto Sao Paulo 15054000 Brazil Medical School Federal University of Goias Colemar Natal e Silva Goiania Goias 74001970 Brazil

The prostate is an accessory sex gland that develops under precise androgenic control. It is known that hormonal imbalance may disrupt its development predisposing this gland to develop diseases during aging. Although the hypothesis regarding earlier origins of prostate diseases was proposed many years ago, the mechanisms underlying this complex phenomenon are poorly understood. Therefore, the aim of this study was to evaluate the prostates of old male gerbils exposed to testosterone during intrauterine and postnatal life using morphological, biometrical, stereological, Kariometric, immunohistochemical, and immunofluorescence analyses. Our findings demonstrate that prenatal and pubertal exposure to testosterone increases the susceptibility to the development of prostate diseases during aging. The presence of a more proliferative gland associated with foci of adenomatous hyperplasia in animals exposed to testosterone during the prenatal and pubertal phase show that the utero life and the pubertal period are important phases for prostatic morphophysiology establishment, which is a determinant for the health of the gland during aging. Therefore, these findings reinforce the idea that prostate disease may result from hormonal disruptions in early events during prostate development, which imprint permanently on the gland predisposing it to develop lesions in later stages of life.

关键词： adenomatous hyperplasia endocrine-disrupting chemicals gerbil prostate development testosterone

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Genotype-environment interaction in Cordia trichotoma(Vell.)Arrá*** *** in two different soil conditions

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Journal of Forestry Research 2022年第1期33卷 309-319页

作者： Wanderley dos Santos Bruno Marchetti de Souza Daniele fernanda Zulian Gilberto Terra Ribeiro Alves João Bosco Vasconcellos Gomes Mário luiz Teixeira de Moraes Valderês Aparecida de Sousa Ananda Virginia de Aguiar Faculdade de Engenharia de Ilha Solteira Universidade Estadual Paulista“Júlio Mesquita Filho”Ilha Solteira 15385-000Brazil Sucupira Agroflorestas Fazenda SucupiraValença 45400-000Brazil EMBRAPA Florestas Empresa Brasileira de Pesquisa AgropecuáriaColombo 83411-000Brazil

Investment in silvicultural techniques is noticeably lacking,especially in breeding programs for non-conventional wood *** genotype×environment interaction(G×E)is essential to the development of breeding ***,this study aimed to estimate genetic diversity of and the effects of G×E interaction on two progeny tests of Cordia trichotoma,including the estimation of genetic gain and genetic diversity after *** the experiment,30 progenies of *** were tested at two sites with differing soil *** at breast height(1.30 m above soil surface,dbh-cm),total height,diameter at 30 cm from the soil,first branch height,and survival were all monitored for four *** deviance,best linear unbiased estimator,and harmonic mean of relative performance of genetic values(MHPRVG)were all calculated to predict breeding values,estimate genetic parameters,and analyze *** quantified traits varied significantly among progenies by soil type,with greatest variation recorded for genetic *** of the progenies led to predictions of genetic gain,ranging from 7.73 to 15.45%,for dbh at four years of *** calculated decrease in genetic diversity after selection showed that this parameter should be monitored in subsequent breeding cycles.G×E was low for all *** best-performing progenies proved most stable and best adapted to the different environmental conditions tested.

关键词： Effective population number Native species Productivity Stability and adaptability Tree improvement

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Decreased prevalence of celiac disease among Brazilian elderly

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World Journal of Gastroenterology 2013年第12期19卷 1930-1935页

作者： Lucas Malta Almeida luiz Claudio Castro Rosa Harumi Uenishi fernanda Coutinho de Almeida Patricia Maria Fritsch Lenora Gandolfi Riccardo Pratesi Yanna Karla de Medeiros Nóbrega Graduate Program in Medical Sciences University of Brasilia School of Medicin Doctoral fellow of Coordenao de Aperfeioamento de Pessoal de Nível Superior Graduate Program in Health Sciences University of Brasilia School of Health Sciences Research Center for Celiac disease University of Brasilia School of Medicine Department of Pharmaceutical Sciences University of Brasilia School of Health Sciences Research Center for Celiac Disease University of Brasilia School of Medicine

AIM: To evaluate the prevalence of celiac disease in a group of Brazilian individuals over 60 years of age and compare it with the previously known prevalence in a pediatric group living in the same geographical ***: The research protocol was approved by the Ethics Committee of the University of Brasilia School of Medicine, Brasilia, Brazil. Blood samples from 946 individuals (295 male and 651 female) aged 60 years or older were collected between May 2010 and July 2011. The study subjects' mean and median ages were 68.1 and 67 years, respectively, ranging from 60 to 92 years. That age distribution closely corresponded to the age distribution of the Brazilian population according to the Brazilian 2010 census. The participants were consecutive and unselected outpatients undergoing blood tests at the University of Brasilia Hospital's Clinical Pathology Laboratory. All sera were tested for immunoglobulin A anti-transglutaminase antibodies (IgA-tTG) by enzymelinked immunosorbent assay, and those that were positive were further tested for immunoglobulin A antiendomysium antibodies (IgA-EMA). Human leukocyte antigen (HLA) genotyping was performed for all individuals who exhibited positive serologic results for IgA-tTG and/or ***: Out of the 946 studied patients, only one previously diagnosed case of biopsy-proven celiac disease was detected. For the remaining subjects, nine serum samples tested positive for IgA-tTG antibodies; however, none of them tested positive for IgA-EMA antibodies. The HLA genotyping of those nine subjects revealed that one was carrying DQA1*0501 and two were carrying DQB1*0201 alleles. These data showed that, among those 946 elderly individuals, the prevalence of celiac disease (CD) was 0.1% (95%CI: 0.00-0.59). The prevalence of CD for the elderly group was compared with that observed for the group of 2034 children younger than 15 years (age range, 1-14 years; mean age, 8 years) who took part in our previous CD prevalence screen

关键词： Celiac disease Gluten-sensitive enteropathy Epidemiology Elderly Mortality

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Change in neoadjuvant chemotherapy could alter the prognosis of patients with pancreatic adenocarcinoma: A case report

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World Journal of Clinical Cases 2021年第14期9卷 3418-3423页

作者： Alberto Meyer Bárbara J Carvalho Kayo AA Medeiros Leonardo Z Pipek fernanda S Nascimento Milena O Suzuki João VT Munhoz Leandro R Iuamoto luiz A Carneiro-D'Alburquerque Wellington Andraus Gastroenterologia Hospital das Clínicas HCFMUSPFaculdade de MedicinaUniversidade de São PauloSão Paulo 01426-010Brazil Gastroenterologia Faculdade de Medicinada Universidade de São PauloSão Paulo 05403-000Brazil Orthopaedics and Traumatology Faculdade de Medicinada Universidade de São PauloSão Paulo 05403-000Brazil

BACKGROUND Neoadjuvant treatment has become a standard of care for borderline or locally advanced pancreatic cancer and is increasingly considered even for up-front resectable *** aim of this article is to present the case of a 62-year-old patient with locally advanced pancreatic adenocarcinoma who was successfully treated with gemcitabine plus nab-paclitaxel after the failure of the first line *** SUMMARY Computerized tomography scan and magnetic resonance imaging demonstrated a nodular lesion of ill-defined limits in the body of the pancreas,measuring approximately 4.2 cm×2.7 cm,with an infiltrative *** tumor had contact with the superior mesenteric vein,splenomesenteric junction and the proximal segment of the splenic artery,causing focal reduction of its *** to vascular involvement,neoadjuvant chemotherapy treatment with eight cycles of“folinic acid,5-fluorouracil,irinotecan and oxa-liplatine”(FOLFIRINOX)were *** the end of the cycles,surgery was performed,but the procedure was interrupted due to finding of lesions suspected of *** plus nab-paclitaxel was then successfully used for neoadjuvant treatment with subsequent R0 surgical *** Gemcitabine plus nab-paclitaxel may be effective as an alternative regimen when FOLFIRINOX fails as the first line of treatment,suggesting the need for further studies to identify which patients would benefit from each type of therapeutic approach.

关键词： Neoadjuvant chemotherapy Pancreatic cancer Resectable pancreatic cancer Borderline resectable Neoadjuvant Pancreas Case report

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Recycling process and proto-kimberlite melt metasomatism in the lithosphere-asthenosphere boundary beneath the Amazonian Craton recorded by garnet xenocrysts and mantle xenoliths from the Carolina kimberlite

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Geoscience Frontiers 2022年第5期13卷 89-105页

作者： fernanda Gervasoni Tiago Jalowitzki Marcelo Peres Rocha Ricardo Kalikowski Weska Eduardo Novais-Rodrigues Rodrigo Antonio de Freitas Rodrigues Yannick Bussweiler Elisa Soares Rocha Barbosa Jasper Berndt Elton luiz Dantas Valmir da Silva Souza Stephan Klemme Centro de Engenharias Universidade Federal de Pelotas(UFPel)PelotasBrazil Programa de Pós-graduação em Geociências Universidade Federal do Rio Grande do SulPorto AlegreBrazil Programa de Pós-graduação em Geologia Instituto de GeociênciasUniversidade de Brasília(UnB)BrasíliaBrazil Faculdade de Geociências Universidade Federal do Mato Grosso(UFMT)CuiabáBrazil Institut für Geologie und Mineralogie Universität zu KölnGermany Faculdade de Ciências e Tecnologia Universidade Federal de Goiás(UFG)Aparecida de GoiâniaBrazil Institut für Mineralogie Universität MünsterMünsterGermany

Here we present new data on the major and trace element compositions of silicate and oxide minerals from mantle xenoliths brought to the surface by the Carolina kimberlite,Pimenta Bueno Kimberlitic Field,which is located on the southwestern border of the Amazonian *** also present Sr-Nd isotopic data of garnet xenocrysts and whole-rocks from the Carolina *** xenoliths are mainly clinopyroxenites and *** of the clinopyroxenites were classified as GPP–PP–PKP(garnet-phlogopite peridotite,phlogopite-peridotite,phlogopite-K-richterite peridotite)suites,and two clinopyroxenites(eclogites)and two garnetites are relicts of an ancient subducted *** and pressure estimates yield 855–1102℃ and 3.6–7.0 GPa,*** are enriched in light rare earth elements(LREE)(La_(N)/Yb_(N)=5–62;Ce_(N)/Sm_(N)=1–3;where N=primitive mantle normalized values),they have high Ca/Al ratios(10–410),low to medium Ti/Eu ratios(742–2840),and low Zr/Hf ratios(13–26),which suggest they were formed by metasomatic reactions with CO_(2)-rich silicate *** with high TiO_(2)(>2.0 wt.%),Al_(2)O_(3)(>12.0 wt.%),and FeOt(5.0–13.0 wt.%)resemble those found in the groundmass of kimberlites,lamproites and ***,phlogopite with low TiO_(2)(<1.0 wt.%)and lower Al_(2)O_(3)(<12.0 wt.%)are similar to those present in GPP-PP-PKP,and in MARID(mica-amphibole-rutile-ilmenite-diopside)and PIC(phlogopite-ilmenite-clinopyorxene)*** GPP-PP-PKP suite of xenoliths,together with the clinopyroxene and phlogopite major and trace element signatures suggests that an intense proto-kimberlite melt metasomatism occurred in the deep cratonic lithosphere beneath the Amazonian *** Sr-Nd isotopic ratios of pyrope xenocrysts(G3,G9 and G11)from the Carolina kimberlite are characterized by high ^(143)Nd/^(144)Nd(0.51287–0.51371)and eNd(+4.55 to+20.85)accompanied with enriched ^(87)Sr/^(86)Sr(0.70405–0.71098).These results suggest intera

关键词： Carolina kimberlite K-rich mantle xenoliths Ancient subducted slab Proto-kimberlite melt metasomatism

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Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload

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World Journal of Hepatology 2019年第2期11卷 186-198页

作者： Wagner Narciso de Campos Juliana Doblas Massaro Eduardo luiz Rachid Can?ado Cláudia Emília Vieira Wiezel Aguinaldo luiz Sim?es Andreza Correa Teixeira fernanda Fernandes de Souza Celso Teixeira Mendes-Junior Ana de Lourdes Candolo Martinelli Eduardo Ant?nio Donadi Division of Clinical Immunology Department of MedicineRibeir?o Preto Medical SchoolUniversity of S?o Paulo Department of Gastroenterology Clinical Gastroenterology and Clinical Hepatology of Clinical HospitalUniversity of S?o Paulo School of Medicine Department of Genetics Ribeir?o Preto Medical SchoolUniversity of S?o Paulo Division of Gastroenterology Department of MedicineRibeir?o Preto Medical SchoolUniversity of S?o Paulo Departamento de Química Laboratório de Pesquisas Forenses e Gen?micasFaculdade de FilosofiaCiências e Letras de Ribeir?o PretoUniversidade de S?o Paulo

BACKGROUND Patients with hepatitis C virus(HCV) and hepatocellular carcinoma(HCC) may or not develop iron overload(IO),which is associated with worst prognosis,because can cause serious damage to *** gene controls the iron uptake from gut,particularly in patients with hereditary hemochromatosis(HH).AIM To identify associations between HFE coding region in patients exhibiting hereditary hemochromatosis and in diseases associated with acquired *** We sequenced exons 2 to 5 and boundary introns of HFE gene,evaluating all polymorphic sites in patients presenting hereditary(hemochromatosis) or acquired iron overload HCV and HCC) and in healthy controls,using Sanger *** also determined the ensemble of extended haplotype in healthy control individuals,including several major histocompatibility complex loci,using sequence specific *** reconstruction was performed using the Arlequin and Phase softwares,and linkage disequilibrium(LD) between histocompatibility loci and HFE gene was performed using the Haploview *** The HFE*003 allele was overrepresented(f = 71%) and HFE*001 allele was underrepresented(f = 14%) in HH patients compared to all groups.A strong linkage disequilibrium was observed among the H63 D-G,IVS2(+4)-C and C282 YG gene variants,particularly in HH;however,the mutation IVS2(+4)T>C was not directly associated with HH *** HFE*001/HFE*002 genotype conferred susceptibility to HCC in HCV patients exhibiting IO(P = 0.02,OR =14.14).Although HFE is telomeric to other histocompatibility genes,the H63 DG/IVS2(+4)-C(P ≤ 0.00001/P ≤ 0.0057) combination was in LD with HLA-B*44 allele group in healthy *** LD was observed between HFE alleles and other major histocompatibility *** A differential HFE association was observed for HH and for diseases associated with acquired IO(HCV,HCC).Since HFE is very distant from other histocompatibility loci,only weak associations were observed with these a

关键词： HFE gene Hepatocellular carcinoma Hepatitis C Hemochromatosis hereditary Alleles Haplotypes

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Computed tomography-guided percutaneous core needle biopsy in pancreatic tumor diagnosis

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World Journal of Gastroenterology 2015年第12期21卷 3579-3586页

作者： Chiang J Tyng Maria fernanda A Almeida Paula NV Barbosa Almir GV Bitencourt José Augusto AG Berg Macello S Maciel Felipe JF Coimbra luiz Henrique O Schiavon Maria Dirlei Begnami Marcos D Guimares Charles E Zurstrassen Rubens Chojniak Department of Imaging AC Camargo Cancer Center S?o Paulo Department of Abdominal Surgery AC Camargo Cancer Center S?o Paulo

AIM: To evaluate the techniques, results, and complications related to computed tomography(CT)-guided percutaneous core needle biopsies of solid pancreatic ***: CT-guided percutaneous biopsies of solid pancreatic lesions performed at a cancer reference center between January 2012 and September 2013 were retrospectively analyzed. Biopsy material was collected with a 16-20 G Tru-Core needle(10-15 cm; Angiotech, Vancouver, CA) using a coaxial system and automatic biopsy gun. When direct access to the lesion was not possible, indirect(transgastric or transhepatic) access or hydrodissection and/or pneumodissection maneuvers were used. Characteristics of the patients, lesions, procedures, and histologic results were recorded using a standardized form. RESULTS: A total of 103 procedures included in the study were performed on patients with a mean age of 64.8 year(range: 39-94 year). The mean size of the pancreatic lesions was 45.5 mm(range: 15-195 mm). Most(75/103, 72.8%) procedures were performed via direct access, though hydrodissection and/or pneumodissection were used in 22.2%(23/103) of cases and indirect transhepatic or transgastric access was used in 4.8%(5/103) of cases. Histologic analysis was performed on all biopsies, and diagnoses were conclusive in 98.1%(101/103) of cases, confirming3.9%(4/103) of tumors were benign and 94.2%(97/103) were malignant; results were atypical in 1.9%(2/103) of cases, requiring a repeat biopsy to diagnose a neuroendocrine tumor, and surgical resection to confirm a primary adenocarcinoma. Only mild/moderate complications were observed in 9/103 patients(8.7%),and they were more commonly associated with biopsies of lesions located in the head/uncinate process(n =8), than of those located in the body/tail(n = 1) of the pancreas, but this difference was not ***: CT-guided biopsy of a pancreatic lesion is a safe procedure with a high success rate, and is an excellent option for minimally invasive diagnosis.

关键词： Computed tomography Image-guided biopsy Large-core

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