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Early gastric cancer:A challenge in Western countries 被引量:11
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作者 Maria Michela Chiarello Valeria Fico +4 位作者 Gilda Pepe Giuseppe Tropeano Neill James Adams Gaia altieri Giuseppe Brisinda 《World Journal of Gastroenterology》 SCIE CAS 2022年第7期693-703,共11页
Early gastric cancer(EGC)is an invasive carcinoma involving only the stomach mucosa or submucosa,independently of lymph node status.EGC represents over 50%of cases in Japan and in South Korea,whereas it accounts only ... Early gastric cancer(EGC)is an invasive carcinoma involving only the stomach mucosa or submucosa,independently of lymph node status.EGC represents over 50%of cases in Japan and in South Korea,whereas it accounts only for approximately 20%of all newly diagnosed gastric cancers in Western countries.The main classification systems of EGC are the Vienna histopathologic classification and the Paris endoscopic classification of polypoid and non-polypoid lesions.A careful endoscopic assessment is fundamental to establish the best treatment of EGC.Generally,EGCs are curable if the lesion is completely removed by endoscopic resection or surgery.Some types of EGC can be resected endoscopically;for others the most appropriate treatment is surgical resection and D2 lymphadenectomy,especially in Western countries.The favorable oncological prognosis,the extended lymphadenectomy and the reconstruction of the intestinal continuity that excludes the duodenum make the prophylactic cholecystectomy mandatory to avoid the onset of biliary complications. 展开更多
关键词 Early gastric cancer DIAGNOSIS TREATMENT Endoscopic resection SURGERY Lymph nodes metastases
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基于深度学习和能力导向型模块开发的教学方案研究
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作者 Mike altieri 陈颖(翻译) 《应用型高等教育研究》 2020年第1期39-48,共10页
博洛尼亚进程和相关的认证程序要求德国高校在建设所有专业时都要以能力为导向。相应地,从中期发展来看,实施一种能够让学生进行深度学习的教学/学习方案是必要的。文章介绍了符合这一要求的教学/学习方案,基于其具有构建一致性的特征,... 博洛尼亚进程和相关的认证程序要求德国高校在建设所有专业时都要以能力为导向。相应地,从中期发展来看,实施一种能够让学生进行深度学习的教学/学习方案是必要的。文章介绍了符合这一要求的教学/学习方案,基于其具有构建一致性的特征,该方案可被纳入能力导向型的专业建设中去。文章还分析了循证研究的结果,以及学生和专家对该教学/学习方案的评估。总结来说,文章旨在介绍一项基于证据的教学/学习方案,它适用于能力导向型的专业建设并顺应在教学/学习研究领域的当前趋势,可以与中国合作伙伴就此展开合作的潜力。 展开更多
关键词 教学/学习方案 基于问题的学习 电子式练习题 构建一致性 能力导向型的模块开发
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Therapeutic strategies in Crohn’s disease in an emergency surgical setting 被引量:3
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作者 Maria Michela Chiarello Gilda Pepe +4 位作者 Valeria Fico Valentina Bianchi Giuseppe Tropeano Gaia altieri Giuseppe Brisinda 《World Journal of Gastroenterology》 SCIE CAS 2022年第18期1902-1921,共20页
Crohn’s disease(CD)remains a chronic,incurable disorder that presents unique challenges to the surgeon.Multiple factors must be considered to allow development of an appropriate treatment plan.Medical therapy often p... Crohn’s disease(CD)remains a chronic,incurable disorder that presents unique challenges to the surgeon.Multiple factors must be considered to allow development of an appropriate treatment plan.Medical therapy often precedes or complements the surgical management.The indications for operative management of CD include acute and chronic disease complications and failed medical therapy.Elective surgery comes into play when patients are refractory to medical treatment if they have an obstructive phenotype.Toxic colitis,acute obstruction,perforation,acute abscess,or massive hemorrhage represent indications for emergency surgery.These patients are generally in critical conditions and present with intra-abdominal sepsis and a preoperative status of immunosuppression and malnutrition that exposes them to a higher risk of complications and mortality.A multidisciplinary team including surgeons,gastroenterologists,radiologists,nutritional support services,and enterostomal therapists are required for optimal patient care and decision making.Management of each emergency should be individualized based on patient age,disease type and duration,and patient goals of care.Moreover,the recurrent nature of disease mandates that we continue searching for innovative medical therapies and operative techniques that reduce the need to repeat surgical operations.In this review,we aimed to discuss the acute complications of CD and their treatment. 展开更多
关键词 Crohn’s disease Intestinal obstruction Free perforation Intra-abdominal sepsis Perineal sepsis Acute bleeding
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Human Embryo Neuronal Culture <i>in Vitro</i>: A Model to Study Cellular Physiology, Receptors, Power and Toxicity of Cytostatic Drugs for Human Use 被引量:2
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作者 Stabile Mariano Monaco Roberto +5 位作者 Iuorio Tina Buoninfante Luca Marino Lucia altieri Vincenzo Della Ragione Carlo Masillo Francesco 《Neuroscience & Medicine》 2012年第3期321-326,共6页
Neural cells cultures from human embryo brain of 9° - 11°W gestational age have been used to study ERα (Estrogens Receptor α) and to perform toxicity test for Mitomycin C and Methotrexate. Histochemical co... Neural cells cultures from human embryo brain of 9° - 11°W gestational age have been used to study ERα (Estrogens Receptor α) and to perform toxicity test for Mitomycin C and Methotrexate. Histochemical confirmation of cellular neuronal phenotype was based on histochemical evidence of NSE (Neuron Specific Enolase).The detection of ERα in neuronal cells was performed with a rabbit Monoclonal Antibody. ERα was absent both on neurons grown in vitro and on tissue brain specimens. This finding is apparently in contrast with the positive immunoreactivity of ERα and ERβ reported by other Authors on foetal and adult CNS (Central Nervous System). The absence of nuclear ERα on neurons in culture and in brain tissue specimens in our experiment is not in contrast with the relevant physiologic role of estrogens on nervous central system, but it could be correlated to the embryonic period of life and could represent a protection of male brain from an undue estrogens imprinting. The mitomycin C, alkylation agent, has shown in our experiment a major neurotoxic and cytostatic power in comparison with methotrexate. Our conclusion is that human embryo neuronal culture in vitro is a powerful instrument for physiology and human therapy for cancer and neurodegenerative diseases. 展开更多
关键词 HUMAN Embryo Neuronal Culture ERα on Embryonic Brain MITOMYCIN C TOXICITY TEST in VITRO Methotrexate TOXICITY TEST in VITRO
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生物多样性在农业生态系统中的应用 被引量:1
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作者 Miguel A.altieri 周锦铭 《资源开发与保护》 1992年第2期158-160,共3页
全世界农业用地占世界陆地面积的25%~30%,其主要的农事活动或许是影响生物多样性的原因之一。当代,工业化国家的农业简化了大区域的农业环境结构,通过部分栽培植物和动物驯化取代了自然界的多样性。实际上,在全世界的农田景观中。仅包... 全世界农业用地占世界陆地面积的25%~30%,其主要的农事活动或许是影响生物多样性的原因之一。当代,工业化国家的农业简化了大区域的农业环境结构,通过部分栽培植物和动物驯化取代了自然界的多样性。实际上,在全世界的农田景观中。仅包括有12种谷类作物、23种蔬菜作物、35种水果和粟类作物。在全球约14.4亿 ha 的已耕种土地上,播种裁培植物种类仅约70种。 展开更多
关键词 生物 多样性 农业生态 系统
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Social Determinants of Social Zapping:Exploring Predictors of Planned Scheduled Social Events with Others
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作者 Alyssa T.altieri Joseph R.Ferrari 《Journal of Psychological Research》 2023年第3期29-39,共11页
Social zapping has gained popularity as a term that refers to canceling plans or appointments at the last minute to attend other,supposedly more appealing events.This behavior resembles rapidly switching channels on a... Social zapping has gained popularity as a term that refers to canceling plans or appointments at the last minute to attend other,supposedly more appealing events.This behavior resembles rapidly switching channels on a television,as individuals frequently jump between different social engagements.The present study examined potential behavioral trait predictors of social zapping,such as belongingness,self-esteem,sense of control,and meaningful existence among community residents ranging from 40 to 75 years of age(n=48).The study utilized simple linear regressions to identify potential predictors of social zapping,exploring how the four fundamental needs(belongingness,self-esteem,sense of control,and meaningful existence)might be linked.Results indicated that belongingness and self-esteem are significant predictors of social zapping tendencies.Additionally,an independent samples t-test was conducted to determine the relationship both older and younger adults have with the four fundamental needs as well as the role age plays in social zapping tendencies.Older adults exhibited a significant and more positive association with self-esteem,sense of control,and meaningful existence compared to individuals aged 39 and younger.Social zapping frequency was nonsignificant for both older adults and younger adults.Furthermore,a separate set of linear regression analyses were completed to determine how social desirability affects social zapping across age groups.Social desirability significantly predicted both self-esteem and meaningful existence.Overall,the present study builds on what is currently a new phenomenon in research and will provide new information on the relationship between age,social zapping,and behavioral traits. 展开更多
关键词 Social zapping Four fundamental needs Communicating online Older adult populations Social desirability
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施用有机肥料对作物虫害的防治与影响 被引量:1
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作者 Clara I.Nicholls +2 位作者 孙钊(译) 贺志清(译) 毛志强(译) 《世界农业》 北大核心 2012年第7期105-107,共3页
本文通过对种植作物施用有机肥料和化学肥料后病虫害数量状况的研究,深入探讨了施肥和虫害之间的关系。通过研究,可以更好地了解病虫害防治和土壤肥力综合管理间的关系,从作物虫害防治的角度提出施用有机肥料可以提高作物的健康水平,这... 本文通过对种植作物施用有机肥料和化学肥料后病虫害数量状况的研究,深入探讨了施肥和虫害之间的关系。通过研究,可以更好地了解病虫害防治和土壤肥力综合管理间的关系,从作物虫害防治的角度提出施用有机肥料可以提高作物的健康水平,这对于农业生产具有重要的意义。 展开更多
关键词 有机肥料 作物营养 虫害 昆虫数量 虫害防治
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Surgical complications of oncological treatments: A narrative review
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作者 Valeria Fico Gaia altieri +5 位作者 Marta Di Grezia Valentina Bianchi Maria Michela Chiarello Gilda Pepe Giuseppe Tropeano Giuseppe Brisinda 《World Journal of Gastrointestinal Surgery》 SCIE 2023年第6期1056-1067,共12页
Gastrointestinal complications are common in patients undergoing various forms of cancer treatments,including chemotherapy,radiation therapy,and moleculartargeted therapies.Surgical complications of oncologic therapie... Gastrointestinal complications are common in patients undergoing various forms of cancer treatments,including chemotherapy,radiation therapy,and moleculartargeted therapies.Surgical complications of oncologic therapies can occur in the upper gastrointestinal tract,small bowel,colon,and rectum.The mechanisms of action of these therapies are different.Chemotherapy includes cytotoxic drugs,which block the activity of cancer cells by targeting intracellular DNA,RNA,or proteins.Gastrointestinal symptoms are very common during chemotherapy,due to a direct effect on the intestinal mucosa resulting in edema,inflammation,ulceration,and stricture.Serious adverse events have been described as complications of molecular targeted therapies,including bowel perforation,bleeding,and pneumatosis intestinalis,which may require surgical evaluation.Radiotherapy is a local anti-cancer therapy,which uses ionizing radiation to cause inhibition of cell division and ultimately lead to cell death.Complications related to radiotherapy can be both acute and chronic.Ablative therapies,including radiofrequency,laser,microwave,cryoablation,and chemical ablation with acetic acid or ethanol,can cause thermal or chemical injuries to the nearby structures.Treatment of the different gastrointestinal complications should be tailored to the individual patient and based on the underlying pathophysiology of the complication.Furthermore,it is important to know the stage and prognosis of the disease,and a multidisciplinary approach is necessary to personalize the surgical treatment.The purpose of this narrative review is to describe complications related to different oncologic therapies that may require surgical interventions. 展开更多
关键词 CANCER CHEMOTHERAPY RADIOTHERAPY COMPLICATIONS Bowel perforation Gastrointestinal bleeding
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The spectrum of pneumatosis intestinalis in the adult.A surgical dilemma
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作者 Giuseppe Tropeano Marta Di Grezia +5 位作者 Caterina Puccioni Valentina Bianchi Gilda Pepe Valeria Fico Gaia altieri Giuseppe Brisinda 《World Journal of Gastrointestinal Surgery》 SCIE 2023年第4期553-565,共13页
Pneumatosis intestinalis(PI) is a striking radiological diagnosis. Formerly a rare diagnostic finding, it is becoming more frequently diagnosed due to the wider availability and improvement of computed tomography scan... Pneumatosis intestinalis(PI) is a striking radiological diagnosis. Formerly a rare diagnostic finding, it is becoming more frequently diagnosed due to the wider availability and improvement of computed tomography scan imaging. Once associated only with poor outcome, its clinical and prognostic significance nowadays has to be cross-referenced to the nature of the underlying condition.Multiple mechanisms of pathogenesis have been debated and multiple causes have been detected during the years. All this contributes to creating a broad range of clinical and radiological presentations. The management of patients presenting PI is related to the determining cause if it is identified. Otherwise, in particular if an association with portal venous gas and/or pneumoperitoneum is present, the eventual decision between surgery and non-operative management is challenging,even for stable patients, since this clinical condition is traditionally associated to intestinal ischemia and consequently to pending clinical collapse if not treated.Considering the wide variety of origin and outcomes, PI still remains for surgeons a demanding clinical entity. The manuscript is an updated narrative review and gives some suggestions that may help make the decisional process easier,identifying patients who can benefit from surgical intervention and those who can benefit from non-operative management avoiding unnecessary procedures. 展开更多
关键词 Pneumatosis intestinalis Risk factors Treatment Portal venous gas Portomesenteric pneumatosis
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用于BNCT-SPECT的帕维亚TRIGA MARK Ⅱ反应堆热柱优化设计
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作者 龚春慧 Fatemi Starehe +5 位作者 Protti Ncolettai Postuma Ina Bortolussi Slvai 耿长冉 汤晓斌 altieri Sverioa 《强激光与粒子束》 EI CAS CSCD 北大核心 2017年第12期87-93,共7页
针对坐落于意大利帕维亚大学的TRIGA Mark Ⅱ反应堆热柱结构进行优化设计,从而满足面向硼中子俘获治疗(BNCT)的单光子发射计算机断层成像(SPECT)研究要求。为提高计算效率并减小统计误差,对比分析使用SSW/SSR方法与直接使用反应堆为源... 针对坐落于意大利帕维亚大学的TRIGA Mark Ⅱ反应堆热柱结构进行优化设计,从而满足面向硼中子俘获治疗(BNCT)的单光子发射计算机断层成像(SPECT)研究要求。为提高计算效率并减小统计误差,对比分析使用SSW/SSR方法与直接使用反应堆为源项时热柱内照射位置处中子能谱,其结果基本一致,从而验证了SSW/SSR方法的可靠性。为在该反应堆开展BNCT中SPECT实验,热柱中子束需准直为笔形束。对比分析四种热柱优化方案下束流口处及探测器处热中子和光子通量:40cm长石墨(射束口5cm×3cm);0.5cm厚硼包裹40cm长石墨(射束口5cm×3cm);30cm长天然锂聚乙烯(射束口直径4cm);30cm长天然锂聚乙烯(20cm长射束口直径5cm,5cm长射束口直径4cm,5cm长射束口直径2cm)。结果显示,射束口处热中子通量分别为1.05×108,2.52×107,6.08×107和5.10×107#/(cm2·s)。综合考虑中子准直效果及光子污染,方案三具有最优性能。为后续进行BNCT-SPECT理论和实验研究提供了基础,从而有效促进BNCT剂量准确评估方法的研究进程。 展开更多
关键词 TRIGA MARK Ⅱ反应堆 硼中子俘获治疗 SSW/SSR MCNP6
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中意清华环境节能楼的节能设计
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作者 Giulio altieri 马俊 《百年建筑》 2006年第6期86-92,共7页
中意清华环境节能楼(Sino—ltaly Ecological and Energy Efficient Building Tsinghua University Beijing,缩写为SIEEB)是意大利环境与领土部和中国科学技术部最大的双边合作项目.中意清华环境节能楼将成为清华大学环境科学与工... 中意清华环境节能楼(Sino—ltaly Ecological and Energy Efficient Building Tsinghua University Beijing,缩写为SIEEB)是意大利环境与领土部和中国科学技术部最大的双边合作项目.中意清华环境节能楼将成为清华大学环境科学与工程系系馆,将成为中意两国在环境和能源.可持续发展领域的教育.培训和研究中心,更是意大利艺术.设计和工业技术在中国不闭幕的展览馆。 展开更多
关键词 节能 设计 集成
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Comparison of Direct Microbial Count Procedures for Planktonics and Sessiles Enumeration
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作者 Barbara Speranza Angela Racioppo +2 位作者 Antonio Bevilacqua Milena Sinigaglia Clelia altieri 《Food and Nutrition Sciences》 2014年第21期2033-2037,共5页
In the present investigation, the sensitivity of different direct microbial count procedures applied on systems containing both planktonics and sessiles was tested. The direct count pour plate was compared with direct... In the present investigation, the sensitivity of different direct microbial count procedures applied on systems containing both planktonics and sessiles was tested. The direct count pour plate was compared with direct epifluorescent microscopic enumerations in order to evaluate the efficiency of the studied techniques in giving information about microbial activity or viability. Our results indicate that the standard plate count procedure is the most sensitive method to estimate viable and cultivable planktonic cells. On the other hand, direct enumeration by epifluorescent microscopy may become an interesting alternative to count sessile cells. 展开更多
关键词 DIRECT Viable COUNT BIOFILM EPIFLUORESCENCE Microscopy FLUOROCHROMES
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Association of H3K4me3 and CBX7 Levels to the Down-Regulation of <i>GKN</i>1 Gene Expression in Gastric Cancer Cells
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作者 Chiara Stella Di Stadio Filomena altieri +4 位作者 Antonella Federico Giuseppina Miselli Maurizio Grillo Emilia Rippa Paolo Arcari 《Journal of Biosciences and Medicines》 2019年第5期146-156,共11页
Gastrokine 1 (GKN1) is a highly secreted gastric mucosal protein in normal individuals but strongly down-regulated or totally absent in gastric cancer subjects. An epigenetic mechanism might be responsible for GKN1 ge... Gastrokine 1 (GKN1) is a highly secreted gastric mucosal protein in normal individuals but strongly down-regulated or totally absent in gastric cancer subjects. An epigenetic mechanism might be responsible for GKN1 gene silencing probably through the activity of a transcription factor in association with the enzymes SUV39H1 and HDACs on the GKN1 promoter. In fact, compared to non-tumor tissues, a high increase of H3K9me3 level was observed in the corresponding tumor ones. Because H3K4me3 seems to be a possible epigenetic mark for active euchromatin, we try to verify the H3K4me3 level on the GKN1 promoter in gastric cancer tumor specimens. In addition, we also attempt to highlight if CBX7 could be the possible regulatory transcription factor correlated to GKN1 gene promoter. Therefore, we evaluated if the CBX7 expression levels could be associated with GKN1 down-regulation in gastric cancer. To this purpose, 2 pairs of non-tumor and tumor surgical specimens from patients with gastric cancer were analyzed for H3K4me3 by chromatin immunoprecipitation (ChiP) assays, and 9 pairs were instead analyzed by Western blotting for GKN1, and CBX7 expression levels, respectively. The results suggested that the observed increase of H3K4me3 in tumor samples was not in agreement with its proposed function whereas the expression of CBX7 was not associated with the down-regulation of GKN1. In particular, the expression levels of CBX7 in tumor samples might suggest a survival role in gastric cancer. 展开更多
关键词 CBX7 Gastrokine 1 Gastric Cancer EPIGENETICS H3K4 Methylation
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SARS-CoV-2 and the pancreas: What do we know about acute pancreatitis in COVID-19 positive patients?
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作者 Giuseppe Brisinda Maria Michela Chiarello +4 位作者 Giuseppe Tropeano Gaia altieri Caterina Puccioni Pietro Fransvea Valentina Bianchi 《World Journal of Gastroenterology》 SCIE CAS 2022年第36期5240-5249,共10页
Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)can cause pancreatic damage,both directly to the pancreas via angiotensin-converting enzyme 2 receptors(the transmembrane proteins required for SARS-CoV-2 ent... Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)can cause pancreatic damage,both directly to the pancreas via angiotensin-converting enzyme 2 receptors(the transmembrane proteins required for SARS-CoV-2 entry,which are highly expressed by pancreatic cells)and indirectly through locoregional vasculitis and thrombosis.Despite that,there is no clear evidence that SARS-CoV-2 is an etiological agent of acute pancreatitis.Acute pancreatitis in coronavirus disease 2019(COVID-19)positive patients often recognizes biliary or alcoholic etiology.The prevalence of acute pancreatitis in COVID-19 positive patients is not exactly known.However,COVID-19 positive patients with acute pancreatitis have a higher mortality and an increased risk of intensive care unit admission and necrosis compared to COVID-19 negative patients.Acute respiratory distress syndrome is the most frequent cause of death in COVID-19 positive patients and concomitant acute pancreatitis.In this article,we reported recent evidence on the correlation between COVID-19 infection and acute pancreatitis. 展开更多
关键词 Acute pancreatitis SARS-CoV-2 Severe acute pancreatitis Multiparametric scores Infected necrosis Step-up approach
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硼中子捕获作为肝自体移植治疗弥漫性肝转移病变的方法
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作者 T.Pineli S.altieri +6 位作者 F.Fossati A.Zonta U.Prati L.Roveda R.Nano S.Barni 冯勤富 《中华放射肿瘤学杂志》 CSCD 北大核心 1997年第3期147-149,共3页
硼中子捕获作为肝自体移植治疗弥漫性肝转移病变的方法T.Pineli,S.Altieri,F.Fossati,A.Zonta,U.Prati,L.Roveda,R.Nano,S.Barni第一届全国快中子治癌研究学术会... 硼中子捕获作为肝自体移植治疗弥漫性肝转移病变的方法T.Pineli,S.Altieri,F.Fossati,A.Zonta,U.Prati,L.Roveda,R.Nano,S.Barni第一届全国快中子治癌研究学术会议发言稿摘译作者单位:INFN,P... 展开更多
关键词 肝转移癌 弥漫性肝癌 弥漫性肝转移病变 肝自体移植 硼中子捕获治疗 BNCT
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Down-Regulation of GKN1 in Gastric Cancer Is Not Associated with the RUNX3 Expression
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作者 Chiara Stella Di Stadio Filomena altieri +5 位作者 Antonella Federico Giuseppina Miselli Antonello Niglio Maurizio De Palma Emilia Rippa Paolo Arcari 《Journal of Biosciences and Medicines》 2017年第11期80-90,共11页
Gastrokine 1 (GKN1) is a gastric mucosal protein highly expressed and secreted in normal individuals but during Helicobacter pylori infection or in gastric carcinogenesis it is strongly down-regulated or totally absen... Gastrokine 1 (GKN1) is a gastric mucosal protein highly expressed and secreted in normal individuals but during Helicobacter pylori infection or in gastric carcinogenesis it is strongly down-regulated or totally absent. In gastric cancer, the GKN1 gene is silenced through an epigenetic mechanism most likely mediated by a transcription factor that promotes on GKN1 promoter the activity of the enzymes SUV39H1 and HDACs. Because RUNX3 is a potential candidate in the regulation of molecular carcinogenesis process of stomach cancers, we tried to assess if RUNX3 could be involved in GKN1 down-regulation in GC. 17 paired of non-tumoral and tumoral surgical specimens from patients with gastric cancer were analyzed for GKN1 and RUNX3 by Western blotting and chromatin immunoprecipitation (Chip) assays. The overall results indicated that RUNX3 expression was not associated with the down-regulation of GKN1. The expression levels of RUNX3 in non-tumoral and tumoral samples suggest that RUNX3 does not act as a tumor suppressor but that it might play a complex oncogenic role in gastric cancer cells. 展开更多
关键词 Gastrokine 1 GASTRIC Cancer EPIGENETICS RUNX3 Tumor SUPPRESSOR
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SRY in an XX male does not influence random chromosome X inactivation: Cytogenetic evidence. Definition of the boundaries of the translocated Y segment through FISH and PCR-RT in a case report and review of the literature
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作者 Mariano Stabile Vincenzo altieri +4 位作者 Rosa Salzillo Panfilo Marrollo Guglielmo Stabile Tina Iuorio Bianca Moscato 《Open Journal of Genetics》 2013年第2期27-32,共6页
We report a case of an SRY positive XX male. The phenotype was completely masculinised except for the reduced facial hair;testes were small, and azoospermia was present. The patient’s metaphases, coloured with acridi... We report a case of an SRY positive XX male. The phenotype was completely masculinised except for the reduced facial hair;testes were small, and azoospermia was present. The patient’s metaphases, coloured with acridine-orange to reveal the late replicating X chromosome, were sequentially hybridised with SRY and X centromeric probes: a random X chromosome inactivation pattern (XCIP) was present, with SRY present about half the time on both the active X and the inactive X. The most likely hypothesis is that the translocated SRY gene escaped inactivation as part of the entire X Pseudo Autosomal telomeric Region 1 (PAR 1). This hypothesis can explain the masculine phenotype, which would be incompatible with a halved expression of SRY. Review of the literature about the association of 46, XX males with a specific XCI pattern is made. The analysis of region AZF and QF-PCR for Y polymorphic loci allowed us to define the boundaries of the translocated Y segment as restricted to the region around the SRY locus. Chromosomal fragility analysis, using SCE (Sister Chromatid Exchanges), ruled out chromosomal fragility as a predisposing factor in the proband’s father;in addition, no chromosome Y polymorphic variant (inversion, Y qh +/﹣), was present in the proband’s father. However, like the AZF region c microdeletions and PRKX/PRKY translocation XX males, a particular Y haplotype could be also in this case a predisposing factor. 展开更多
关键词 XX MALE SRY Translocation X-Y X CHROMOSOME INACTIVATION Y CHROMOSOME
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Urinary polyomavirus infections in neurodevelopmental disorders
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作者 Ivan Gentile Laura altieri +14 位作者 Carla Lintas Roberto Sacco Paolo Curatolo Arianna Benvenuto Filippo Muratori Elisa Santocchi Carmela Bravaccio Carlo Lenti Raffaella Faggioli Roberto Rigardetto Marina Gandione Giuseppe Portella Emanuela Zappulo Guglielmo Borgia Antonio M. Persico 《Open Journal of Psychiatry》 2013年第2期18-25,共8页
We have recently reported enhanced frequencies of polyomavirus infection in post-mortem brain tissue of autistic patients compared to controls. To further explore potential contributions to neurodevelopmental disorder... We have recently reported enhanced frequencies of polyomavirus infection in post-mortem brain tissue of autistic patients compared to controls. To further explore potential contributions to neurodevelopmental disorders by polyomaviruses, we have employed specie-specific TaqMan assays to assess the prevalence and titres of BKV, JCV and SV40 inthe urines of 87 patients with autism spectrum disorder, 84 controls matched by sex and age with the autistic sample, 15 subjects with Down syndrome and 13 fragile X individuals. Prevalence rates of urinary BKV infection were significantly greater in Down syndrome and fragile X patients compared to autistic and control individuals (P < 0.01). In a large majority of patients who showed the presence of urinary genomes, viral titres resulted significantly higher among Down syndrome patients (P < 0.01) compared to controls, autism spectrum disorder and fragile X individuals, who did not significantly differ from each other. Our results are consistent with previous evidence supporting hampered immunological surveillance and/or immune deficits in fragile X and especially in Down syndrome patients. 展开更多
关键词 AUTISM BKV Down SYNDROME Fragile X SYNDROME JCV SV40
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