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晚报文萃 2010年第24期 35-35页

作者： Anna carmela Tolentino

如果当初的我不那么自私、妒忌,或许,他们会有不一样的人生……我家住在菲律宾马尼拉的马卡蒂。那是1996年,还有三天就要过圣诞节了,我从二楼小房间的窗户向外张望,看到两个新朋友走进我家。在看过太多关于孤儿的电视报道后,我终于也要

关键词：维吉妈妈

The Hemochromatosis Distribution in Matera Province： A New SNP to Explain the Low Genotype-Phenotype Correlation

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Journal of Life Sciences 2012年第5期6卷 469-475页

作者： Maria carmela Padula Marilena Larocca Rocco Rossano Luigi Milella Domenico Dell'Edera Giuseppe Martelli Department of Biology University of Basilicata Potenza Viale dell 'Ateneo Lucano 85100 Italy

The present study aims to investigate the genotype-phenotype correlation of the hereditary hemochromatosis (HH), a genetic disorder of iron metabolism, in Matera province (Basilicata, Italy). Integrating both epidemiological and molecular approaches, the authors studied: (a) the frequency of the HH main mutations; (b) the association between mutations and HH cases. The majority of patients with HH are homozygous for the C282Y mutation of the HFE gene. A second mutation (H63D) is more widely distributed and its connection with HH isn"t clear, but a low penetrance is attributed to this variant. The population-based study consists of three steps: (1) determination of iron biochemical parameters, (2) genetic test, and (3) sequencing of HFE gene and bioinformatics studies. A case report is presented in a 41-year-old male (genotype: H63D/wt) with biochemical and clinical evidences of HH, in absence of secondary iron overload factors. In the cohort of studied patients (150M:62F), there are 18 homozygous patients; H63D/H63D genotype is found in 11 cases. In the heterozygous group, H63D/wt is the predominant genotype (61/68 subjects). All the H63D/wt residents in the same village (Mont.) show altered biochemical parameter levels. In our case study, a substitution localized into the HFE promoter (nt225A > C) is found. Results show that the H63D genotype is responsible for most cases of HH. The peculiar clinical manifestation found in Mont. suggests a founder effect. In our case, the iron overload is related to a presence of an undetected mutation, critical for the transcriptional regulation of the HFE gene.

关键词：表型相关基因型 SNP 分子生物学方法遗传性疾病血色生化指标临床表现

Acute lobar nephritis in children: Not so easy to recognize and manage

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World Journal of Clinical Pediatrics 2016年第1期5卷 136-142页

作者： Cristina Bibalo Andrea Apicella Veronica Guastalla Pierluigi Marzuillo Floriana Zennaro carmela Tringali Andrea Taddio Claudio Germani Egidio Barbi Depart-ment of Pediatrics University of Trieste Department of Womenand Children and General and Specialized Surgery Seconda Università degli Studi di Napoli Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" Pediatric Ward Ospedale di San Daniele San Daniele del Friuli

Acute lobar nephritis(ALN) is a localized non-liquefactive inflammatory renal bacterial infection, which typically involves one or more lobes. ALN is considered to be a midpoint in the spectrum of upper urinary tract infection, a spectrum ranging from uncomplicated pyelonephritis to intrarenal abscess. This condition may be difficult to recognize due to the lack of specific symptoms and laboratory findings. Therefore the disease is probably underdiagnosed. Computed tomography scanning represents the diagnostic gold standard for ALN, but magnetic resonance imagine could be considered in order to limit irradiation. The diagnosis is relevant since initial intravenous antibiotic therapy and overall length of treatment should not be shorter than 3 wk. We review the literature and analyze the ALN clinical presentation starting from four cases with the aim to give to the clinicians the elements to suspect and recognize the ALN in children.

关键词： Acute lobar nephritis Children Computed tomography Magnetic resonance imagine Upper urinary tract infection

Ultrasound detection of abdominal lymphadenomegaly in subjects with hepatitis C virus infection and persistently normal transaminases:a predictive index of liver histology severity

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World Journal of Gastroenterology 1998年第3期4卷 90-90页

作者： Maurizio Soresi, Antonio Carroccio, Giulio Bonfissuto, Vincenzo Agate 1, carmela Magliarisi, Federico Aragona 1, Massimo Levrero 2, Alberto Notarbartolo and Giuseppe Montalto Cattedra di Medicina Interna, 1Istituto di Anatomia Patologica, Univ

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ＵｌｔｒａｓｏｕｎｄｄｅｔｅｃｔｉｏｎｏｆａｂｄｏｍｉｎａｌｌｙｍｐｈａｄｅｎｏｍｅｇａｌｙｉｎｓｕｂｊｅｃｔｓｗｉｔｈｈｅｐａｔｉｔｉｓＣｖｉｒｕｓｉｎｆｅｃｔｉｏｎａｎｄｐｅｒｓｉｓｔｅｎｔｌｙｎｏｒｍａｌｔｒａｎｓａｍｉｎａｓｅｓ：ａｐｒｅｄｉ...

关键词： histology severity predictive

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菜豆罐头制造品质性状的数量性状位点分析

国外作物育种 2003年第4期22卷 49-49页

作者： Maria-carmela T．Posa-Macalincag 谢国禄

γ氨基丁酸转运体1在大脑皮质小胶质细胞中的表达

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神经损伤与功能重建 2020年第12期15卷 F0003-F0003页

作者： Giorgia Fattorini Myriam Catalano Marcello Melone carmela Serpe Silvia Bassi Cristina Limatola Fiorenzo Conti 杜一星(编译) Department of Experimental and Clinical Medicine Section of Neuroscience and Cell BiologyUniversitàPolitecnica delle MarcheAnconaItaly Center for Neurobiology of Aging IRCCS INRCAAnconaItaly Department of Physiology and Pharmacology Sapienza University of RomeLaboratory Affiliated to Istituto Pasteur ItaliaRomeItaly IRCCS Neuromed Via AtinensePozzilliItaly 不详

小胶质细胞是脑的免疫细胞。通过感知微环境,小胶质细胞可以使大脑正常发育和发挥功能。它们与其他神经胶质细胞和神经元通讯,释放能对周围细胞产生影响的许多分子,并且能对这些分子做出反应。其中,神经递质,尤其是γ-氨基丁酸(GABA)最... 详细信息

小胶质细胞是脑的免疫细胞。通过感知微环境,小胶质细胞可以使大脑正常发育和发挥功能。它们与其他神经胶质细胞和神经元通讯,释放能对周围细胞产生影响的许多分子,并且能对这些分子做出反应。其中,神经递质,尤其是γ-氨基丁酸(GABA)最近引起了研究者对这一过程的兴趣。我们证明了GABA转运体1(GAT-1)在小胶质细胞的胞体和突起均有表达。我们发现,用强效的和选择性的GAT-1抑制剂NNC-711处理小胶质细胞,可显着降低其钠离子依赖性GABA的摄取。另一方面,用GAT-2/3抑制剂SNAP-5114处理细胞能显著增加其对GABA的摄取。该作用可被肉毒杆菌毒素Bo NT/C1完全阻断,该毒素特异性切割和灭活突触融合蛋白1A(STX1A)。总而言之,这些发现表明小胶质细胞表达GAT-1,且STX1A在小胶质细胞中GAT-1依赖的GABA摄取调控中起着重要作用。

关键词： γ氨基丁酸 γ氨基丁酸转运体1 小胶质细胞

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地方政府应对冲击和危机的战略:预期能力和财政脆弱性的作用

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国际行政科学评论（中文版） 2021年第1期87卷 148-165页

作者：卡梅拉·巴贝拉马丁·琼斯桑贾·科拉克艾丽丝·塞利特尔伊利亚娜·斯特科里尼孙一平(译) 熊缨(审校) 意大利贝加莫大学管理、经济和定量方法系英国诺丁汉特伦特大学诺丁汉商学院会计与金融系奥地利克拉根福大学公共、非营利和健康管理系德国弗赖堡大学中国人事科学研究院不详

本文以政府财政韧性文献为基础,利用德国、意大利和英国600多个地方政府的调查数据,探讨了危机时期外部冲击、预期能力和相关的感知脆弱性在决定不同组织应对战略中的作用(即“恢复”与“向前”战略)。面对冲击,更高的感知脆弱性与恢复... 详细信息

本文以政府财政韧性文献为基础,利用德国、意大利和英国600多个地方政府的调查数据,探讨了危机时期外部冲击、预期能力和相关的感知脆弱性在决定不同组织应对战略中的作用(即“恢复”与“向前”战略)。面对冲击,更高的感知脆弱性与恢复战略尤其相关,而预期能力的存在则与向前战略相关。

关键词：恢复向前预期能力危机财政弹性德国意大利冲击英国脆弱性

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多器官床旁即时超声在新型冠状病毒肺炎中的应用:国际专家共识

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中国呼吸与危重监护杂志 2021年第2期20卷 77-84页

作者：王臻(译) Arif Hussain Gabriele Via Lawrence Melniker Alberto Goffi Guido Tavazzi Luca Neri Tomas Villen Richard Hoppmann Francesco Mojoli Vicki Noble Laurent Zieleskiewicz Pablo Blanco Irene W.Y.Ma Mahathar Abd.Wahab Abdulmohsen Alsaawi Majid AI Salamah Martin Balik Diego Barca Karim Bendjelid Belaid Bouhemad Pablo Bravo-Figueroa Raoul Breitkreutz Juan Calderon Jim Connolly Roberto Copetti Francesco Corradi Anthony J.Dean AndréDenault Deepak Govil carmela Graci Young-Rock Ha Laura Hurtado Toru Kameda Michael Lanspa Christian B Laursen Francis Lee Rachel Liu Massimiliano Meineri Miguel Montorfano Peiman Nazerian Bret P.Nelson Aleksandar N.Neskovic Ramon Nogue Adi Osman JoséPazeli Elmo Pereira-Junior Tomislav Petrovic Emanuele Pivetta Jan Poelaert Susanna Price Gregor Prosen Shalim Rodriguez Philippe Rola Colin Royse Yale Tung Chen Mike Wells Adrian Wong Wang Xiaoting Wang Zhen Yaseen Arabi 中国人民解放军空军军医大学航空航天医学系陕西西安710032 Department of Cardiac Sciences King Abdulaziz Medical City and King Abdullah International Medical Research Center 不详

新型冠状病毒肺炎(简称新冠肺炎,COVID-19)自首次报道以来,已造成全球超一亿人感染,给各国的公共卫生体系造成了巨大威胁。新冠肺炎的临床表现以呼吸系统体征和症状为主,80%的患者症状轻微,约5%为危重症患者,常表现为急性呼吸窘迫综合征... 详细信息

新型冠状病毒肺炎(简称新冠肺炎,COVID-19)自首次报道以来,已造成全球超一亿人感染,给各国的公共卫生体系造成了巨大威胁。新冠肺炎的临床表现以呼吸系统体征和症状为主,80%的患者症状轻微,约5%为危重症患者,常表现为急性呼吸窘迫综合征(ARDS)。前期,由于缺乏相关研究,面对日益紧迫的临床困境,医务人员不得不借鉴采取一些经验性措施以应对疫情。

关键词：体征和症状肺炎公共卫生体系呼吸系统首次报道专家共识疫情

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