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Urinary Excretion of microRNAs in Young Fabry Disease Patients with Mild or Absent Nephropathy

Open Journal of Nephrology 2018年第3期8卷 71-83页

作者： Sebastián Jaurretche Graciela Venera Norberto Antongiovanni fernando perretta Germán R. Perez School of Medicine Instituto Universitario Italiano de Rosario Rosario Argentina Los Manantiales Neurosciences Center Rosario Argentina. Center for Infusion and Study of Lysosomal Diseases Instituto de Nefrología de Pergamino Pergamino Argentina Intensive Care Unit Hospital Dr. Enrique Erill Belen de Escobar Argentina School of Biochemical and Pharmaceutical Sciences Nacional University of Rosario Rosario Argentina Gammalab Grupo Gamma Rosario Argentina

Fabry disease (FD) clinical manifestations often start in childhood. Among the FD complications, renal failure causes significant morbidity and mortality. Early diagnosis and treatment of FD nephropathy in children may be critical to preserve renal function. In proteinuric progressive nephropathies it has been described that pro-fibrotic miR-21, miR-192, and miR-433 families are activated and that anti-fibrotic miR-29 and miR-200 families are inhibited. Objective: Analyze urinary excretion of microRNAs related to renal fibrosis in FD patients with mild or absent nephropathy. Patients with confirmed diagnosis of FD under 18 years of age were compared with healthy subjects. Patients were classified into two groups: 1) Patients with urinary excretion profile of microRNAs indicative of renal fibrosis;and 2) Patients with urinary excretion profile of microRNAs not indicative of renal fibrosis. Results: 9 healthy subjects were enrolled in the study (18.66 ± 13.43 years), 4 males and 5 females. All of them presented normal eFGR without pathological albuminuria. FD population: 12 patients (10.33 ± 3.93 years) were studied, 5 males and 7 females. Patients presented 2 different genotypes: L415P (6 patients) and E398X (6 patients). The urinary excretion profile of microRNAs indicative of renal fibrosis was present in 4 patients (2 with L415P genotype and 2 with E398X genotype), all of them with a decreased of miR-29 and/or miR-200. No patient presented increased miR-21, miR-192 and/or miR-433. Decreased α-gal-A activity was the only variable associated with statistical significance (p ≤ 0.01) to urinary excretion profile of microRNA indicative of renal fibrosis. Conclusions: Young FD patients with classical mutations of GLA gene and mild or absent nephropathy could present a profile of urinary excretion of microRNAs indicative of renal fibrosis associated with decreased α-gal-A activity independently of the other variables. Our findings could suggest a regulation of microRNAs

关键词： Fabry Nephropathy Biomarkers Urinary microRNA Renal Fibrosis Early Diagnosis

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NOTES new frontier:Natural orifice approach to retroperitoneal disease

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World Journal of Gastrointestinal Surgery 2010年第5期2卷 157-164页

作者： Pierre Allemann Silvana perretta Mitsuhiro Asakuma Bernard Dallemagne Jacques Marescaux IRCAD/EITS Institute Strasbourg University Hospital 1 place de l'hpital 67000 Strasbourg France IRCAD/EITS Institute Strasbourg University Hospital1place de l'hpital 67000 Strasbourg France

AIM: To develop a pure transvaginal access to the retroperitoneum, that is simple, reproducible and uses endoscopic material available on the market. METHODS: From February 2008 to April 2009, 31 pigs were operated on, with 17 as an acute experiment and 14 with a survival protocol. The animals were placed in a supine position and a 12-mm double-channel endoscope (Karl StorzTM, Tuttlingen) was used for vision and dissection. During the same time period, the access experiment was reproduced on 3 human cadavers using material similar to that used in the animal model. RESULTS: In the animal model, 37 interventions were done on the kidney, adrenal gland and pancreas. The mean time to fashion the access was 10 min (range 5 to 20 min). No intraoperative death was observed. Two major (5%) intraoperative complications occurred: one hemorrhage on the aorta and one tearing of the right renal vein. Peritoneal laceration was encountered in 5 cases without impairing the planned task. In the survival group, good clinical outcome was observed at a mean follow-up of 3 wk (range 2 to 6 wk). In the 3 cadavers, access was performed correctly. The mean time to fashion the access was 52 min (range 40 to 60 min). All the anatomical landmarks described in the pig model were clearly identified in the same sequence. CONCLUSION: A retroperitoneal natural orifice translumenal surgical transvaginal approach is feasible in both animal and human models and allows performance of a large panel of interventions.

关键词： Nephrectomy Natural orif ice Natural orif ice translumenal surgery Pancreatectomy Retroperitoneum Adrenalectomy

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用于称重的双斜率积分式AD转换器

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中国检验检测 1987年第2期 35-36页

作者： Lou perretta 袁凤

本文介绍作为数字称重指示器核心的模一数转换电路(简称"a/d"),它将力传感器产生的经过调节的模拟信号转换成数字信号,以便于由仪器中的微计算机进行计算、显示和传输。让我们考察一种称为积分式、双斜率 a/d电路的常用 a/d 电路,它是... 详细信息

本文介绍作为数字称重指示器核心的模一数转换电路(简称"a/d"),它将力传感器产生的经过调节的模拟信号转换成数字信号,以便于由仪器中的微计算机进行计算、显示和传输。让我们考察一种称为积分式、双斜率 a/d电路的常用 a/d 电路,它是以积分放大器为主

关键词：积分器起始点输人复制原点 AD 变换器仪表转换器相位参考信号重量测量质量测量称重

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Transgastric cholecystectomy:From the laboratory to clinical implementation

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World Journal of Gastrointestinal Surgery 2010年第6期2卷 187-192页

作者： Bernard Dallemagne Silvana perretta Pierre Allemann Gianfranco Donatelli Mitsuhiro Asakuma Didier Mutter Jacques Marescaux Department of Digestive and Endocrine Surgery Ple Hépato-DigestifUniversity Hospital of Strasbourg and IRCAD

After the first report by Kalloo et al on transgastric peritoneoscopy in pigs,it rapidly became apparent that there was no room for an under-evaluated concept and blind adoption of an appealing(r)evolution in minimal access *** experimental work became mandatory before any trans lation to the clinical *** and management of the access site,techniques of dissection,exposure,retraction and tissue approximationsealing were the basics that needed to be evaluated before considering any surgical procedure or study of the relevance of natural orifice transluminal endoscopic surgery(NOTES).After several years of testing in experimental labs,the revolutionary concept of NOTES,is now progressively being experimented on in clinical *** this paper the authors analyse the challenges,limitations and solutions to assess how to move from the lab to clinical implementation of transg astric endoscopic cholecystectomy.

关键词： Flexible surgery Cholecystectomy Natural orifice transluminal endoscopic surgery Minimal invasive surgery Endoscopic surgery

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Challenges of Improving Intensive Care Medicine in Eritrea: Impact of an Italian Cooperative Project of Educational and Clinical Support

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Open Journal of Anesthesiology 2013年第7期3卷 315-319页

作者： Valentina Anichini Giovanni Zagli Hagos Goitom Giovanni Cianchi Andrea Cecchi Lucia perretta Emanuele Bigazzi Barbara Gazzini Simone Proietti Alessandro Di Filippo Simone Toccafondi Gianfranco Gensini Giancarlo Berni Adriano Peris Anesthesia and Intensive Care Unit of Emergency Department Careggi Teaching Hospital Florence Italy Anesthesia and Intensive Care Faculty of Medicine University of Florence Florence Italy Department Intensive Care Unit Orotta National Referral Hospital Asmara Eritrea Department of Critical Care Medicine and Surgery Careggi Teaching Hospital Florence Italy First Aid of Emergency Department Careggi Teaching Hospital Florence Italy Tuscany Region Sanitary System Florence Italy.

Intensive care in Africa is available only in teaching or referral hospitals. Here we report the experience of a multidisciplinary collaboration between physicians and nurses of the Emergency Department (First Aid and Intensive Care Unit) of a tertiary referral hospital (Careggi Teaching Hospital, Florence, IT) and physicians and nurses of Orotta National referral Hospital in Asmara, Eritrea. The project was aimed at performing clinical assistance and training on the job to the local staff to improve the standard of care in the local Emergency Department. The duration of the project was initially planned to be 30 months, but unfortunately it was interrupted after 18 months because of lack of funds. The Italian staff was composed of two physicians and two nurses per period. To monitor local ICU activity, a retrospective survey of 36 months was performed. During the 36 months of data collection, 1169 patients were admitted to the ICU. Intra-ICU mortality rate resulted comparable before, during, and after Italian presence. On the contrary, the 28-day mortality resulted significantly lower bo th during and after the Italian stay. After project interruption, the Italian staff maintained contact with the Eritrean ICU personnel, who were invited to attend the Italian ICU for one month per year, and collected information about Orotta ICU activities.

关键词： Intensive Care Unit Developing Countries MEWS

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经皮局部消融治疗单发局灶性亚临床乳腺癌:冷冻消融的临床经验和初步结果

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国际医学放射学杂志 2012年第1期 93-93页

作者： G.Manenti T.perretta E.Gaspari C.A.Pistolese L.Scarano E.Cossu 孟小茜 Department of Diagnostic Imaging and Interventional Radiology Molecular Imaging and RadiotherapyUniversity Hospital "Tor Vergata"viale Oxford 8100133 RomeItaly

目的评价影像介导下经皮冷冻消融治疗单发性亚临床大小的乳腺癌的疗效及对术后外观的影响,病灶均经超声、乳腺X线和MRI发现并经真空辅助活检证实。

关键词：冷冻消融经皮消融 MRI 乳腺癌微创

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小乳腺癌:应用冷头射频专用系统对活体行经皮超声引导下射频消融治疗

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国际医学放射学杂志 2009年第4期32卷 378-378页

作者： G. Manenti F. Bolacchi T. perretta E. Cossu C.A. Pistolese O.C.Buonomo 郑梅竹（译）葛夕洪（校） Department of Diagnostic and Molecular Imaging Radiation Therapy and lnterventional Radiology University Hospital Policlinico Tor Vergata Viale Oxford 81 00133 Rome Italy. 不详

目的评估新研制的人体乳腺癌射频（RF）消融系统在活体内对人小乳腺癌的治疗效果,包括诱导完全坏死、重复性消融病灶大小和形状及美容效果。方法该研究获得机构伦理委员会批准,病人签署知情同意书。34例经活检证实为侵袭性小导管癌（≤... 详细信息

目的评估新研制的人体乳腺癌射频（RF）消融系统在活体内对人小乳腺癌的治疗效果,包括诱导完全坏死、重复性消融病灶大小和形状及美容效果。方法该研究获得机构伦理委员会批准,病人签署知情同意书。34例经活检证实为侵袭性小导管癌（≤2cm）的绝经后女性[平均年龄（53＋5）岁,范同：49-62岁]为研究对象。RF能量通过一个25mm可调温的15G单极冷针电极传输。根据乳腺摄影确定的乳腺类型将病例分为3组．明确凝固区的体积和形状以及消融时间。将组织病理学表现与术后3．0T对比增强MR检查结果进行比较,

关键词：射频消融治疗小乳腺癌专用系统活体内超声引导机构伦理委员会冷头对比增强MR

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