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Identification of patients at-risk for Lynch syndrome in a hospital-based colorectal surgery clinic

World Journal of Gastroenterology 2011年第6期17卷 766-773页

作者： Patrícia Koehler-Santos Patricia Izetti Jamile Abud Carlos Eduardo Pitroski Silvia Liliana Cossio Suzi alves Camey Cláudio Tarta Daniel C Damin paulo Carvalho Contu Mario Antonello Rosito Patricia Ashton-Prolla Joāo Carlos Prolla Genomic Medicine Laboratory Experimental Research CenterHospital de Clínicas de Porto Alegre Post-Graduate Program in Medical Sciences Federal University of Rio Grande do Sul National Institute for Populational Medical Genetics Medical School Federal University of Rio Grande do Sul Post-Graduate Program in Gastroenterological Sciences Federal University of Rio Grande do Sul Department of Statistics Federal University of Rio Grande do Sul Post-Graduate Program in Epidemiology Federal University of Rio Grande do Sul Research and Post-Graduation Group Hospital de Clínicas de Porto Alegre Division of Coloproctology Hospital de Clínicas de Porto Alegre Department of Surgery Federal University of Rio Grande do Sul Medical Genetics Service Hospital de Clínicas de Porto Alegre Department of Genetics Federal University of Rio Grande do Sul Service of Pathology Hospital de Clínicas de Porto AlegrePorto Alegre-RS90035-903Brazil

AIM:To determine the prevalence of a family history suggestive of Lynch syndrome (LS) among patients with colorectal cancer (CRC) followed in a coloproctology outpatient clinic in Southern ***:A consecutive sample of patients with CRC were interviewed regarding personal and family histories of *** data and pathology features of the tumor were obtained from chart ***:Of the 212 CRC patients recruited,61 (29%) reported a family history of CRC,45 (21.2%) were diagnosed under age 50 years and 11 (5.2%) had more than one primary *** histories consistent with Amsterdam and revised Bethesda criteria for LS were identified in 22 (10.4%) and 100 (47.2%) patients,*** percent of the colorectal tumors had features of the high microsatellite instability phenotype,which was associated with younger age at CRC diagnosis and with Bethesda criteria (P < 0.001).Only 5.3% of the patients above age 50 years had been previously submitted for CRC screening and only 4% of patients with suspected LS were referred for genetic risk ***:A significant proportion of patients with CRC were at high risk for *** and training of health care professionals are essential to ensure proper management.

关键词： Colorectal cancer Family history Hereditary cancer Lynch syndrome Microsatellite instability phenotype

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Nicotinic cholinergic receptors in esophagus:Early alteration during carcinogenesis and prognostic value

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World Journal of Gastroenterology 2016年第31期22卷 7146-7156页

作者： Marina Chianello Nicolau Luis Felipe Ribeiro Pinto Pedro Nicolau-Neto paulo roberto alves de Pinho Ana Rossini Tatiana de Almeida Simao Sheila Coelho Soares Lima Departamento de Bioquímica Instituto de Biologia Roberto Alcantara GomesUniversidade do Estado do Rio de Janeiro Programa de Carcinogênese Molecular Instituto Nacional de CancerCoordenacao de Pesquisa Gastroenterologia Hospital Universitário Pedro ErnestoUniversidade do Estado do Rio de Janeiro

AIM: To compare expression of nicotinic cholinergic receptors(CHRNs) in healthy and squamous cell carcinoma-affected esophagus and determine the prognostic ***: We performed RT-q PCR to measure the expression of CHRNs in 44 esophageal samples from healthy individuals and in matched normal surrounding mucosa, and in tumors from 28 patientsdiagnosed with esophageal squamous cell carcinoma(ESCC). Next, we performed correlation analysis for the detected expression of these receptors with the habits and clinico-pathological characteristics of all study participants. In order to investigate the possible correlations between the expression of the different CHRN subunits in both healthy esophagus and tissues from ESCC patients, correlation matrices were generated. Subsequently, we evaluated whether the detected alterations in expression of the various CHRNs could precede histopathological modifications during the esophageal carcinogenic processes by using receiver operating characteristic curve analysis. Finally, we evaluated the impact of CHRNA5 and CHRNA7 expression on overall survival by using multivariate ***: CHRNA3, CHRNA5, CHRNA7 and CHRNB4, but not CHRNA1, CHRNA4, CHRNA9 or CHRNA10, were found to be expressed in normal(healthy) esophageal mucosa. In ESCC, CHRNA5 and CHRNA7 were overexpressed as compared with patient-matched surrounding non-tumor mucosa(ESCC-adjacent mucosa; P < 0.0001 and P = 0.0091, respectively). Positive correlations were observed between CHRNA3 and CHRNB4 expression in all samples analyzed. Additionally, CHRNB4 was found to be differentially expressed in the healthy esophagus and the normalappearing ESCC-adjacent mucosa, allowing for distinguishment between these tissues with a sensitivity of 75.86% and a specificity of 78.95%(P = 0.0002). Finally, CHRNA5 expression was identified as an independent prognostic factor in ESCC; patients with high CHRNA5 expression showed an increased overall survival, in comparison with those

关键词： Nicotinic cholinergic receptors Esophagus Esophageal squamous cell carcinoma Tobacco Alcohol Gene expression

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Branch retinal vein thrombosis and visual loss probably associated with pegylated interferon therapy of chronic hepatitis C

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World Journal of Gastroenterology 2006年第28期12卷 4602-4603页

作者： Luciana Lofego Gonalves Alberto Queiroz Farias Patrícia Lofego Gonalves Elbio Antonio D'Amico Flair José Carrilho Santa Casa de Misericórdia de Vitória Espírito Santoand University of Sao Paulo School of MedicineBrazil University of Sao paulo School of Medicine Brazil Federal University of Espírito Santo School of Medicine Brazil

Ophthalmological complications with interferon therapy are usually mild and reversible, not requiring the withdrawal of the treatment. We report a case of a patient who had visual loss probably associated with interferon therapy. Chronic hepatitis C virus infection （genotype la） was diagnosed in a 33-year old asymptomatic man. His past medical history was unremarkable and previous routine ophthalmologic check-up was normal. Pegylated interferon alpha and ribavirin were started. Three weeks later he reported painless reduction of vision. Ophthalmologic examination showed extensive intraretinal hemorrhages and cottonwool spots, associated with inferior branch retinal vein thrombosis. Antiviral therapy was immediately discontinued, but one year later he persists with severely decreased visual acuity. This case illustrates the possibility of unpredictable and severe complications during pegylated interferon therapy.

关键词： Hepatitis C Interferon Visual loss

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Multiomic investigation of Sugarcane mosaic virus resistance in sugarcane

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The Crop Journal 2023年第6期11卷 1805-1815页

作者： Ricardo JoséGonzaga Pimenta Alexandre Hild Aono roberto Carlos Villavicencio Burbano Marcel Fernando da Silva Ivan Antônio dos Anjos Marcos Guimarães de Andrade Landell Marcos Cesar Gonçalves Luciana Rossini Pinto Anete Pereira de Souza Centre for Molecular Biology and Genetic Engineering University of CampinasCampinasBrazil Gustavo Galindo Velasco Campus Littoral Polytechnic Superior SchoolGuayaquilEcuador Advanced Centre for Technological Research in Sugarcane Agribusiness Agronomic Institute of CampinasRibeirão PretoBrazil Plant Protection Research Centre Biological InstituteSão PauloBrazil Department of Plant Biology Institute of BiologyUniversity of CampinasCampinasBrazil

Sugarcane mosaic virus(SCMV)is the main etiological agent of sugarcane mosaic disease,which affects sugarcane and other grass *** the extensive characterization of quantitative trait loci controlling resistance to SCMV in maize,the genetic basis of this trait in sugarcane is largely ***,a genome-wide association study was performed and machine learning coupled with feature selection was used for genomic prediction of resistance to SCMV in a diverse sugarcane *** single-nucleotide polymorphisms(SNPs)explained up to 29.9%of the observed phenotypic variance and a 73-SNP set predicted resistance with high accuracy,precision,recall,and F1 scores(the harmonic mean of precision and recall).Both marker sets were validated in additional sugarcane genotypes,in which the SNPs explained up to 23.6%of the phenotypic variation and predicted resistance with a maximum accuracy of 69.1%.Synteny analyses suggested that the gene responsible for the majority of SCMV resistance in maize is absent in sugarcane,explaining why this major resistance source has not been identified in this ***,using sugarcane RNA-Seq data,markers associated with resistance to SCMV were annotated,and a gene coexpression network was constructed to identify the predicted biological processes involved in *** network allowed the identification of candidate resistance genes and confirmed the involvement of stress responses,photosynthesis,and the regulation of transcription and translation in resistance to *** results provide a practical marker-assisted breeding approach for sugarcane and identify target genes for future studies of SCMV resistance.

关键词： Saccharum SCMV GWAS Machine learning RNA-Seq

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Diabetic neuropathy: An evaluation of the use of quercetin in the cecum of rats

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World Journal of Gastroenterology 2013年第38期19卷 6416-6426页

作者： paulo Emilio Botura Ferreira Cláudia Regina Pinheiro Lopes Angela Maria Pereira alves der paulo Belato alves David Robert Linden Jacqueline Nelisis Zanoni Nilza Cristina Buttow Department of Morphological Sciences Universidade Estadual de MaringáMaringáPR. CEP 87020-900Brazil Department of Physiology and Biomedical Engineering and Enteric NeuroScience Program Mayo Clinic College of MedicineRochesterMN 55905United States

AIM:To investigate the effect of quercetin supplementation on the myenteric neurons and glia in the cecum of diabetic ***:Total preparations of the muscular tunic were prepared from the ceca of twenty-four rats divided into the following groups:control(C),control supplemented with quercetin(200 mg/kg quercetin body weight)(CQ),diabetic(D)and diabetic supplemented with quercetin(DQ).Immunohistochemical double staining technique was performed with HuC/D(general population)/nitric oxide synthase(nNOS),HuC-D/S-100and *** analysis of the general neuronal population HuC/D-IR,the nNOS-IR(nitrergic subpopulation)and the enteric glial cells(S-100)was performed,and the morphometry and the reduction in varicosity population(VIP-IR)in these populations were ***:Diabetes promoted a significant reduction(25%)in the neuronal density of the HuC/D-IR(general population)and the nNOS-IR(nitrergic subpopulation)compared with the C *** also significantly increased the areas of neurons,glial cells and VIP-IR *** with quercetin in the DQ group prevented neuronal loss in the general population and increased its area(P<0.001)and the area of nitrergic subpopulation(P<0.001),when compared to C *** induced a VIP-IR and glial cells areas(P<0.001)in DQ group when compared to C,CQ and D ***:In diabetes,quercetin exhibited a neuroprotective effect by maintaining the density of the general neuronal population but did not affect the density of the nNOS subpopulation.

关键词： Diabetes Myenteric plexus Neuroprotection Neuronal nitric oxide synthase Vasoactive intestinal polypeptide Enteric glia

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Self-reported participation restrictions in normal hearing individuals in thyroid ontogeny: Evidence of subclinical changes

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Journal of Otology 2019年第1期14卷 6-11页

作者： Caio Le?nidas Oliveira de Andrade Gabriela Carvalho Machado Luan paulo Franco Magalh?es Elen Pereira de Jesus Elaine alves Matias Taíse Lima de Oliveira Cerqueira Hélida Braga de Oliveira Luciene da Cruz Fernandes Helton Estrela Ramos Crésio de Arag?o Dantas alves Postgraduate Program in Interactive Processes of Organs and Systems Institute of Health Science–Federal University of Bahia Department of Life Sciences University of the State of Bahia Social Services Sister Dulce Institute of Health Science–Federal University of Bahia Department of Speech Therapy Institute of Health Science–Federal University of Bahia Department of Bioregulation Health & Sciences Institute Federal University Bahia (UFBA) Medical School Institute of Health Science–Federal University of Bahia

Purpose: To verify evidence of subclinical alterations through self-reported participation restrictions in normal hearing individuals and congenital hypothyroidism ***: An analytical, quantitative, cross-sectional exploratory study with a 1:1 ratio, consisting of a convenience sample of 86 normal hearing individuals with(n = 42) and without(n = 44) congenital hypothyroidism diagnosis. All participants underwent tonal and speech audiometry, immitance and distortion product otoacoustic emissions. The researchers excluded people with hearing loss, genetic syndromes and metabolic diseases. The instrument used for evaluate of self-reported participation restrictions was the HHIE-adapted questionnaire, composed of 25 questions, 12 of which were social domain and 13 emotional domain. Student's ttest and chi-square test were used for statistical analysis at a significance level of 5%.Results: There was a significant(p < 0.001) self-reported participation restrictions in CH(61.9%), with a greater relevance for the social domain(p = 0.002). There was a greater frequency of mild/moderate(40.5%)and higher prevalence of association with clinical factors and adherence to ***: The findings indicate that self-reported participation restrictions in normal hearing individuals with congenital hypothyroidism was more significant than in the non-exposed group, suggesting evidence of subclinical auditory abnormalities in this population.

关键词： Hearing Hearing loss Auditory perception Congenital hypothyroidism Surveys and questionnaires

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Grain-size end-members and environmentally sensitive grain-size components: A comparative study in the mud shelf depocenters off southern Brazil

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International Journal of Sediment Research 2021年第2期36卷 317-327页

作者： Michel Michaelovitch de Mahiques Samara Cazzoli y Goya Maria Carolina da Silva Nogueira de Matos Rodrigo Augusto Udenal de Oliveira Bianca Sung Mi Kim paulo alves de Lima Ferreira Rubens Cesar Lopes Figueira Marcia Caruso Bícego Oceanographic Institute University of S?o Paulo Pra?a do Oceanográfico Institute of Energy and Environment University of S?o Paulo Avenida Professor Luciano Gualberto

The current study aims to do a comparative analysis of the results obtained with two End-Member(EM)grain-size modeling techniques(Analy Size and Bas EMMA) and the Environmental Sensitive Grain-Size(ESGS) modeling for sediment samples collected in the mudbelts of the southern Brazilian shelf. The methods were compared using grain-size data from the south Brazilian shelf, and the results are discussed here. It is the first time that the concept of ESGS, in its present form, is utilized outside China. The results show that despite its relative ease of use, the ESGS is not fully comparable to the EM analyses, and only two grain-size ESGS classes were recognized as analogous to EMs. The comparison of the Analy Size and Bas EMMA procedures also revealed significant differences between the techniques. A comparative analysis between the two EM techniques revealed advantages in the Bas EMMA, especially in the better correlation of the end-members with the original grain size distribution. The analysis of the geographical distribution of the EM abundances allowed point sources of sandy populations to be recognized as well as the contribution of the Rio de la Plata as a source of silty sediments to be inferred.

关键词： Grain-size End-member Environmentally sensitive Mudbelt Continental shelf

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Interrelationship between chromosome 8 aneuploidy,C-MYC amplification and increased expression in individuals from northern Brazil with gastric adenocarcinoma

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World Journal of Gastroenterology 2006年第38期12卷 6207-6211页

作者： Danielle Queiroz Calcagno Mariana Ferreira Leal Aline Damaceno Seabra Andre Salim Khayat Elizabeth Suchi Chen Samia Demachki paulo Pimentel Assumpcao Mario Henrique Girao Faria Silvia Helena Barem Rabenhorst Márcia Valéria Pitombeira Ferreira Marília de arruda Cardoso Smith Rommel Rodríguez Burbano Human Cytogenetics and Toxicological Genetics Laboratory Department of BiologyCenter of Biological SciencesFederal University of ParáBelémPABrazil Genetics Division Department of Morphology Federal University of Sao PauloSao PauloSPBrazil Department of Pathology and Surgery Service Federal University of ParáBelémPABrazil Joao de Barros Barreto University Hospital Federal University of ParáBelémPABrazil Molecular Genetics Laboratory Department of Pathology Medical SchoolFederal University of CearáFortalezaCEBrazil

AIM: To investigate chromosome 8 numerical aberra- tions, C-MYC oncogene alterations and its expression in gastric cancer and to correlate these findings with histo- pathological characteristics of gastric tumors. METHODS: Specimens were collected surgically from seven patients with gastric adenocarcinomas. Immu- nostaining for C-MYC and dual-color fluorescence in situ hybridization (FISH) for C-MYC gene and chromosome 8 centromere were performed. RESULTS: All the cases showed chromosome 8 aneu- ploidy and C-MYC amplification, in both the diffuse and intestinal histopathological types of Lauren. No significant difference (P < 0.05) was observed between the level ofchromosome 8 ploidy and the site, stage or histological type of the adenocarcinomas. C-MYC high amplification, like homogeneously stained regions (HSRs) and double minutes (DMs), was observed only in the intestinal-type. Structural rearrangement of C-MYC, like translocation, was observed only in the diffuse type. Regarding C-MYC gene, a significant difference (P < 0.05) was observed between the two histological types. The C-MYC protein was expressed in all the studied cases. In the intestinal- type the C-MYC immunoreactivity was localized only in the nucleus and in the diffuse type in the nucleus and cytoplasm. CONCLUSION: Distinct patterns of alterations between intestinal and diffuse types of gastric tumors support the hypothesis that these types follow different genetic path- ways.

关键词： Chromosome 8 aneuploidy C-MYC amplification Immunostaining Gastric adenocarcinoma

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Thermal and Mechanical Properties of Thermoplastic Starch and Poly(Vinyl Alcohol-Co-Ethylene)Blends

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Journal of Renewable Materials 2019年第3期7卷 245-252页

作者： Ana Clara Lancarovici alves Rafael Grande Antonio José Felix Carvalho Department of Materials Engineering Sao Carlos School of EngineeringUniversity of Sao PauloAv.Joao Dagnone110013563-120Sao Carlos-SP-Brazil

The interest in thermoplastic starch(TPS)as a substitute material to replace conventional thermoplastics continues especially due its biodegradability,availability,low cost and because it is obtained from renewable ***,its poor mechanical properties and its high sensitivity to humidity have limited its use in several ***,the copolymer poly(ethylene-co-vinyl alcohol)(EVOH),with two different ethylene contents,27 and 44 mol%were blended with TPS by extrusion in order to overcome these *** obtained blends were characterized by thermogravimetric analysis(TGA),differential scanning calorimetry(DSC),mechanical tensile testing,Scanning Electron Microscopy(SEM)and moisture absorption *** addition of EVOH copolymer did not significantly changed the thermal stability of TPS,however it increased the tensile strength in 65%when compared to *** morphology of the blends did not showed two distinct phases,an indication of miscibility or partial miscibility of the components.A decrease of moisture absorption was obtained by the addition of EVOH and is more pronounced for the EVOH with 44% of ethylene.

关键词： Thermoplastic starch EVOH polymer blends thermal properties of polymers mechanical properties of polymers

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Changes of Estuarine Sedimentation Patterns by Urban Expansion: The Case of Middle Capibaribe Estuary, Northeastern Brazil

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International Journal of Geosciences 2017年第4期8卷 514-535页

作者： roberto Lima Barcellos Rubens César Lopes Figueira Elvis Joacir Franç a Carlos Augusto Schettini Diego de arruda Xavier Departament of Oceanography Federal University of Pernambuco Recife Brazil Oceanographic Institute Universityof S&atilde o paulo S&atilde o paulo Brazil Departament of Environmental Analysis Regional Center Nuclear Science of Northeast Rio de Janeiro Brazil

The aim of this study is to describe the sedimentary evolution occurred during the last 200-years in the middle Capibaribe Estuary by mean of the sedimentary analysis (magnetic susceptibility, grain size, calcium carbonate, total organic matter—TOM) and geochemical parameters (sedimentation rates, heavy metal concentrations, enrichment and contamination factor) along a core. The core recorded four units and the measured sedimentation rate was 0.52 cm cm·y﹣1. The first unit, dating before 1812, showed environmental characteristics of mangrove with predominance of fine sediments, high total organic matter percentages and heavy metal concentrations probably from natural sources. The second unit, from 1812 to 1937, showed a slight increase in sand percentages and decrease in fine fraction, TOM contents and heavy metals concentrations. These characteristics may be associated with the urban expansion processes and the presence of monoculture of sugar cane occurred in the middle Capibaribe Estuary. The third unit, from 1937 to 2004, showed the highest sand percentages of the core, characterizing a unit exclusively of sand with low fine fractions percentages, total organic matter contents and heavy metals concentrations. This unit represented the intensification of the urban processes expansion of Recife City. The fourth unit showed increases in fine fraction sedimentation, TOM contents and heavy metals concentrations. This new change in sedimentation probably is consequence of rebirth of marginal estuarine banks by mangrove vegetation, due to environmental projects carried out by Recife Prefecture in the early 2000’s. It was not possible to register the anthropic contamination to middle estuary area probably due to the Barreiras Formation influences in the metal concentration records, masking the anthropic contamination inputs in estuarine region. Although, lead and arsenic showing an enrichment level indicating anthropic contamination.

关键词： Sedimentary Evolution Grain Size Heavy Metals Sedimentation Rate

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