20 results on '"Zanetti, G"'
Search Results
2. An enlarged heart with hyperdense consolidation
- Author
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Bruno Hochhegger, Soares Souza A, Zanetti G, and Marchiori E
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Cardiomyopathy, Dilated ,Male ,Pleural Effusion ,Dyspnea ,Cough ,Acute Lung Injury ,Tachycardia, Ventricular ,Amiodarone ,Humans ,Alanine Transaminase ,Middle Aged ,Tomography, X-Ray Computed ,Anti-Arrhythmia Agents - Published
- 2013
3. Molecular epidemiology of methicillin-resistant Staphylococcus aureus in Switzerland: sampling only invasive isolates does not allow a representative description of the local diversity of clones
- Author
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Senn, L, Basset, P, Greub, G, Prod'hom, G, Frei, R, Zbinden, R, Gaia, V, Balmelli, C, Pfyffer, G E, Mühlemann, K, Zanetti, G, Blanc, D S, University of Zurich, and Senn, L
- Subjects
Adult ,Aged, 80 and over ,Male ,Methicillin-Resistant Staphylococcus aureus ,Molecular Epidemiology ,Adolescent ,Genotype ,10179 Institute of Medical Microbiology ,Genetic Variation ,Infant ,610 Medicine & health ,2725 Infectious Diseases ,Middle Aged ,Staphylococcal Infections ,2726 Microbiology (medical) ,Hospitals ,Molecular Typing ,Young Adult ,Child, Preschool ,570 Life sciences ,biology ,Humans ,Female ,Child ,Switzerland ,Aged - Abstract
We conducted a molecular study of MRSA isolated in Swiss hospitals, including the first five consecutive isolates recovered from blood cultures and the first ten isolates recovered from other sites in newly identified carriers. Among 73 MRSA isolates, 44 different double locus sequence typing (DLST) types and 32 spa types were observed. Most isolates belonged to the NewYork/Japan, the UK-EMRSA-15, the South German and the Berlin clones. In a country with a low to moderate MRSA incidence, inclusion of non-invasive isolates allowed a more accurate description of the diversity.
- Published
- 2012
4. Premier cas de néphropathie epidémique endémique en Suisse [First case of nephropathia epidemica acquired in Switzerland]
- Author
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Fontana-Binard, L., Schultze, D., Rojanavisut, B.S., Krüger, D.H., Dollenmaier, G., Zanetti, G., and Meylan, P.
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Adult ,Hemorrhagic Fever with Renal Syndrome ,Humans ,Male ,Switzerland - Abstract
A 43 year healthy old man complains of fever with abdominal pain, vomiting, diarrhoea, followed by the development of thrombocytopenia and acute renal failure. The laboratory tests show the presence of Hantavirus specific IgM and IgG which is confirmed by a specific test revealing Puumala serotype as responsible. The patient received a symptomatic treatment with a favourable evolution allowing discharge about ten days after the beginning of symptoms. Hantavirus are transmitted by rodents, and this patient has certainly been infected in Switzerland in the absence of travel abroad during the incubation period. This means that when confronted in Switzerland with an acute nephritis of unknown origin, a diagnosis of nephropathia epidemica must be taken into account.
- Published
- 2008
5. Maladies infectieuses en pratique ambulatoire (sauf sida) [Infectious diseases (beside AIDS)]
- Author
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Bellini, C., Senn, L., and Zanetti, G.
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Humans ,Infection - Abstract
A simplified version of the US guidelines for prophylaxis of infectious endocarditis was published in 2007. Changes are expected in Switzerland as well. Posaconsole is a new antifungal agent available mostly for prophylaxis in immunocompromised patients. Epidemiology of sexually transmitted infections warrants screening in young adults and after one episode. A meta-analysis clarified the impact of antibiotic therapy in patients with Campylobacter spp. infection. In the field of emerging diseases, we discuss Norovirus epidemics, community-acquired bacteria producing extended-spectrum betalactamases, extensively resistant tuberculosis, and new respiratory viruses. Finally, we address a basic research topic that may change practice in the future: the relationship between individual susceptibility to infection and innate immunity.
- Published
- 2008
6. An integrated simulator for surgery of the petrous bone
- Author
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John, Nw, Thacker, N., Pokric, M., Jackson, A., Zanetti, G., Gobbetti, E., Giachetti, A., Stone, Rj, Campos, J., Emmen, A., Schwerdtner, A., Emanuele Neri, Franceschini, Ss, and Rubio, F.
- Subjects
Ossicular Prosthesis ,User-Computer Interface ,Humans ,Computer Simulation ,Neuroma, Acoustic ,Stapes Surgery ,Cochlear Implantation ,Craniotomy ,Patient Care Planning ,Petrous Bone - Abstract
This paper describes work being undertaken as part of the IERAPSI (Integrated Environment for the Rehearsal and Panning of Surgical Intervention) project. The project is focussing on surgery for the petrous bone, and brings together a consortium of European clinicians and technology providers working in this field. The paper presents the results of a comprehensive user task analysis that has been carried out in the first phase of the IERAPSI project, and details the current status of development of a pre operative planning environment and a physically-based surgical simulator.
- Published
- 2001
7. Relationship between body weight and blood pressure and some metabolic parameters in psoriatic patients
- Author
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Antonio Pagnan, S. Padovan, P. Bertoli, Andrea Peserico, Roberto Cipriani, Ambrosio Gb, Zanetti G, C. Veller Fornasa, and Sergio Zamboni
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Adult ,Blood Glucose ,Male ,medicine.medical_specialty ,Population ,Blood Pressure ,Dermatology ,Overweight ,Body weight ,chemistry.chemical_compound ,Psoriasis ,Internal medicine ,medicine ,Humans ,education ,Triglycerides ,education.field_of_study ,business.industry ,Body Weight ,Middle Aged ,medicine.disease ,Control subjects ,Uric Acid ,Endocrinology ,Blood pressure ,Cholesterol ,Normal weight ,chemistry ,Uric acid ,Female ,medicine.symptom ,business - Abstract
summary The relationship between body weight and blood pressure, total serum cholesterol, triglycerides, uric acid and glucose was investigated in 203 psoriatic patients in comparison with 904 healthy controls. In the psoriatic patients, these parameters were clearly related to their body weight. Those psoriatic patients of normal weight exhibited lower mean values of all the parameters compared with overweight psoriatic patients while they did not differ from control subjects of normal weight. Our results suggest that only overweight psoriatic patients exhibit the metabolic abnormalities frequently reported in the literature, while psoriatic patients of normal weight do not differ from the general population in this respect.
- Published
- 1988
8. Glial fibrillary acidic protein immunoreactivity in human respiratory tract cartilages and pulmonary chondromatous hamartomas
- Author
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Viale, G., Claudio DOGLIONI, Orto, P., Zanetti, G., Iuzzolino, P., Bontempini, L., and Coggi, G.
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Adult ,Male ,Lung Neoplasms ,Hamartoma ,Respiratory System ,macromolecular substances ,Immunohistochemistry ,Cartilage ,Fetus ,nervous system ,Reference Values ,Glial Fibrillary Acidic Protein ,Humans ,Female ,Research Article - Abstract
Immunocytochemical investigation was performed on a large series of adult, neonatal, and fetal respiratory tract cartilages to ascertain their immunoreactivity for glial fibrillary acidic protein (GFAP) and vimentin. Two polyclonal and six different monoclonal antibodies were used to document the presence of GFAP-immunoreactive chondrocytes in all the fetal and neonatal cartilages as well as in the adult epiglottis, arythenoids, and lobar, segmental, and subsegmental bronchi. The number of chondrocytes showing GFAP immunoreactivity decreased from fetal life to adulthood. Simultaneous immunoreactivity for GFAP and vimentin has also been ascertained in chondrocytes and in perichondrial stellate or elongated cells of the 25 chondromatous hamartomas investigated. These findings document yet another "inappropriate" pattern of intermediate filament immunoreactivity in normal and neoplastic human cells, and contradict the widely held supposition that the expression of GFAP is restricted to cells of glial origin.
- Published
- 1988
9. [Infectious diseases (beside AIDS)]
- Author
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Bellini C, Laurence Senn, and Zanetti G
- Subjects
Humans ,Infections - Abstract
A simplified version of the US guidelines for prophylaxis of infectious endocarditis was published in 2007. Changes are expected in Switzerland as well. Posaconsole is a new antifungal agent available mostly for prophylaxis in immunocompromised patients. Epidemiology of sexually transmitted infections warrants screening in young adults and after one episode. A meta-analysis clarified the impact of antibiotic therapy in patients with Campylobacter spp. infection. In the field of emerging diseases, we discuss Norovirus epidemics, community-acquired bacteria producing extended-spectrum betalactamases, extensively resistant tuberculosis, and new respiratory viruses. Finally, we address a basic research topic that may change practice in the future: the relationship between individual susceptibility to infection and innate immunity.
10. A cutaneous ulceration with pulmonary mass
- Author
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Edson Marchiori, Hochhegger, B., Guimarães, D. M., and Zanetti, G.
- Subjects
Lung Diseases ,Male ,Anti-Inflammatory Agents ,Humans ,Prednisone ,Pyoderma Gangrenosum ,Aged
11. [Candida fungemia]
- Author
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Zanetti G, Thierry Calandra, de Muralt B, Bille J, and Mp, Glauser
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Adult ,Aged, 80 and over ,Male ,Cross Infection ,Adolescent ,Candidiasis ,Middle Aged ,Blood ,Ketoconazole ,Amphotericin B ,Child, Preschool ,Candida albicans ,Humans ,Female ,Child ,Aged ,Retrospective Studies - Abstract
From 1980 to 1986, 52 patients presented with an episode of fungemia due to Candida species at the Centre Hospitalier Universitaire Vaudois (representing 2% of the patients with positive blood cultures). In 51 of the 52 patients (98%) the infection was nosocomial, occurring after a median hospital stay of 24 days (range 4-250 days). Only 36 patients (69%) presented with an underlying condition (neoplasms in 18 patients, alcoholism in 7, diabetes in 6, immunosuppressive therapy in 5). In 19 patients (37%) an episode of bacteremia occurred prior to fungemia (median time 14 days, range 1-70 days). Candida albicans was the most commonly isolated species (71%). In 50 patients (96%) the episode of fungemia was associated with a significant, although nonspecific, clinical impairment. The digestive tract (38%) and N intravascular catheter (31%) were the two most common portals of entry for the fungemia. 32 patients (62%) received specific antifungal therapy consisting of amphotericin B in 29 patients (median total dose 450 mg, administered either alone or in association) or of ketoconazole in 3 patients. The global mortality was 46% and the fungemia-related mortality was 21%. Global and fungemia-related mortalities were significantly higher in patients not treated with antifungals than in those treated with them (87% versus 30%, p less than 0.001, and 47% versus 11%, p = 0.01 respectively).
12. [Antimicrobial agents and renal elimination: towards individual dosage adjustment?]
- Author
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Willi-Robatel C, Laurence Senn, Livio F, Zanetti G, Marchetti O, and Buclin T
- Subjects
Anti-Infective Agents ,Dose-Response Relationship, Drug ,Metabolic Clearance Rate ,Inactivation, Metabolic ,Practice Guidelines as Topic ,Humans ,Drug Dosage Calculations ,Precision Medicine ,Kidney - Abstract
The efficacy and safety of anti-infective treatments are associated with the drug blood concentration profile, which is directly correlated with a dosing adjustment to the individual patient's condition. Dosing adjustments to the renal function recommended in reference books are often imprecise and infrequently applied in clinical practice. The recent generalisation of the KDOQI (Kidney Disease Outcome Quality Initiative) staging of chronically impaired renal function represents an opportunity to review and refine the dosing recommendations in patients with renal insufficiency. The literature has been reviewed and compared to a predictive model of the fraction of drug cleared by the kidney based on the Dettli's principle. Revised drug dosing recommendations integrating these predictive parameters are proposed.
13. [Control of an outbreak of vancomycin-resistant enterococci in several hospitals of western Switzerland]
- Author
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Laurence Senn, Petignant C, Chabanel D, and Zanetti G
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Cross Infection ,Infection Control ,Enterococcus faecium ,Humans ,Vancomycin Resistance ,Gram-Positive Bacterial Infections ,Switzerland ,Disease Outbreaks - Abstract
An outbreak of vancomycin-resistant enterococci (VRE) occurred in 2011 in several hospitals of western Switzerland. Given that VRE can spread rapidly within hospitals and due to the potential transfer of resistance genes to other nosocomial pathogens like MRSA, stringent control measures were implemented. Excellent coordination of control measures between partner healthcare settings was successful in stopping the outbreak.
14. [Adenocarcinoma arising in adenomyosis after estrogen therapy in the menopause]
- Author
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Zanetti G, Dall'Ara P, and PAOLO SCARANI
- Subjects
Estrogens, Conjugated (USP) ,Uterine Neoplasms ,Endometriosis ,Humans ,Female ,Adenocarcinoma ,Menopause ,Middle Aged
15. Emergence of vancomycin-resistant enterococci in Switzerland: a nation-wide survey
- Author
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Nasstasja Wassilew, Andreas F. Widmer, Jonas Marschall, Viktorija Rion, Laurence Senn, Niccolò Buetti, Céline Gardiol, for Swissnoso, Balmelli, C., Eisenring, M.C., Harbarth, S., Kuster, S.P., Spicher, V.M., Pittet, D., Ruef, C., Sax, H., Schlegel, M., Schweiger, A., Troillet, N., and Zanetti, G.
- Subjects
0301 basic medicine ,Microbiology (medical) ,medicine.medical_specialty ,VRE ,030106 microbiology ,Short Report ,Clone (cell biology) ,610 Medicine & health ,Drug resistance ,ST796 ,Communicable Diseases, Emerging ,lcsh:Infectious and parasitic diseases ,03 medical and health sciences ,0302 clinical medicine ,Medical microbiology ,Vancomycin ,Anti-Bacterial Agents/pharmacology ,Communicable Diseases, Emerging/epidemiology ,Communicable Diseases, Emerging/microbiology ,Gram-Positive Bacterial Infections/epidemiology ,Gram-Positive Bacterial Infections/microbiology ,Humans ,Switzerland/epidemiology ,Vancomycin/pharmacology ,Vancomycin Resistance ,Vancomycin-Resistant Enterococci/classification ,Vancomycin-Resistant Enterococci/drug effects ,Vancomycin-Resistant Enterococci/genetics ,Vancomycin-Resistant Enterococci/isolation & purification ,Hospital-acquired ,Nosocomial ,Outbreak ,Vancomycin-resistant enterococci ,Epidemiology ,Medicine ,Pharmacology (medical) ,lcsh:RC109-216 ,030212 general & internal medicine ,Gram-Positive Bacterial Infections ,business.industry ,Public Health, Environmental and Occupational Health ,Vancomycin-Resistant Enterococci ,biochemical phenomena, metabolism, and nutrition ,bacterial infections and mycoses ,Virology ,Anti-Bacterial Agents ,3. Good health ,Infectious Diseases ,business ,Switzerland - Abstract
This nation-wide survey on the epidemiology of vancomycin-resistant enterococci (VRE) included 142 healthcare institutions and showed an increasing number of VRE colonizations and infections in Switzerland, probably for the most part due to nosocomial dissemination. The introduction and spread of a new clone, gaps in VRE screening policies as well as heterogeneity regarding the management of VRE clusters may be possible explanations. Electronic supplementary material The online version of this article (10.1186/s13756-019-0466-x) contains supplementary material, which is available to authorized users.
- Published
- 2019
- Full Text
- View/download PDF
16. Enhancing Reuse of Data and Biological Material in Medical Research: From FAIR to FAIR-Health
- Author
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Dominik Strapagiel, Sara Casati, Andrea Wutte, Irene Schlünder, Jan-Eric Litton, Osman Ugur Sezerman, Gert-Jan B. van Ommen, Petr Holub, Gillian M. Martin, Marialuisa Lavitrano, Gianluigi Zanetti, Łukasz Kozera, Dalibor Valík, Michaela Th. Mayrhofer, Georges Dagher, Florian Kohlmayer, Maimuna Mendy, Gabriele Anton, Lefteris Koumakis, Kurt Zatloukal, Fabian Prasser, Holub, P, Kohlmayer, F, Prasser, F, Mayrhofer, M, Schlünder, I, Martin, G, Casati, S, Koumakis, L, Wutte, A, Kozera, Ł, Strapagiel, D, Anton, G, Zanetti, G, Sezerman, O, Mendy, M, Valík, D, Lavitrano, M, Dagher, G, Zatloukal, K, van Ommen, G, Litton, J, and Acibadem University Dspace
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0301 basic medicine ,Information storage and retrieval systems ,FAIR (Findable ,Databases, Factual ,Biobanks -- Management ,Process (engineering) ,Test data generation ,incentives ,privacy protection ,Interoperability ,and Reusable) principle ,Medicine (miscellaneous) ,Guidelines as Topic ,Cloud computing ,Reuse ,General Biochemistry, Genetics and Molecular Biology ,Accessible ,And Reusable) Principles ,Fair (findable ,Incentives ,Interoperable ,Open Science ,Privacy Protection ,Provenance Information Management ,Quality ,03 medical and health sciences ,0302 clinical medicine ,Resource (project management) ,open science ,Humans ,Medicine ,030212 general & internal medicine ,Biological Specimen Banks ,Data protection ,Information Dissemination ,business.industry ,MED/04 - PATOLOGIA GENERALE ,Findability ,Original Articles ,Cell Biology ,General Medicine ,Biobank ,Data science ,incentive ,3. Good health ,FAIR (Findable, Accessible, Interoperable, and Reusable) principle ,030104 developmental biology ,Privacy ,quality ,and Reusable) principles ,Freedom of information ,business ,provenance information management ,Confidentiality ,FAIR (Findable, Accessible, Interoperable, and Reusable) principles - Abstract
The known challenge of underutilization of data and biological material from biorepositories as potential resources formedical research has been the focus of discussion for over a decade. Recently developed guidelines for improved data availability and reusability—entitled FAIR Principles (Findability, Accessibility, Interoperability, and Reusability)—are likely to address only parts of the problem. In this article,we argue that biologicalmaterial and data should be viewed as a unified resource. This approach would facilitate access to complete provenance information, which is a prerequisite for reproducibility and meaningful integration of the data. A unified view also allows for optimization of long-term storage strategies, as demonstrated in the case of biobanks.Wepropose an extension of the FAIR Principles to include the following additional components: (1) quality aspects related to research reproducibility and meaningful reuse of the data, (2) incentives to stimulate effective enrichment of data sets and biological material collections and its reuse on all levels, and (3) privacy-respecting approaches for working with the human material and data. These FAIR-Health principles should then be applied to both the biological material and data. We also propose the development of common guidelines for cloud architectures, due to the unprecedented growth of volume and breadth of medical data generation, as well as the associated need to process the data efficiently., peer-reviewed
- Published
- 2018
- Full Text
- View/download PDF
17. Lentiviral vector common integration sites in preclinical models and a clinical trial reflect a benign integration bias and not oncogenic selection
- Author
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Stefania Merella, Gianluigi Zanetti, Martina Cesani, Cynthia C. Bartolomae, Daniela Cesana, Alessia Capotondo, Jacopo Sgualdino, Tiziana Plati, Natalie Cartier, Patrik Aubourg, Christof von Kalle, Luigi Naldini, Eugenio Montini, Enrico Rubagotti, Manfred G. Schmidt, Fabrizio Benedicenti, Alessandra Biffi, Marco Ranzani, Biffi, A, Bartolomae, Cc, Cesana, D, Cartier, N, Aubourg, P, Ranzani, M, Cesani, M, Benedicenti, F, Plati, T, Rubagotti, E, Merella, S, Capotondo, A, Sgualdino, J, Zanetti, G, von Kalle, C, Schmidt, M, Naldini, Luigi, and Montini, E.
- Subjects
Knockout ,Virus Integration ,medicine.medical_treatment ,Genetic Vectors ,Immunology ,Hematopoietic stem cell transplantation ,medicine.disease_cause ,Biochemistry ,Viral vector ,Mice ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Adrenoleukodystrophy ,Animals ,Clinical Trials as Topic ,DNA-Binding Proteins ,Gene Transfer Techniques ,Genetic Therapy ,Hematopoietic Stem Cell Transplantation ,Humans ,Interleukin Receptor Common gamma Subunit ,Lentivirus ,Mice, Knockout ,Transplantation Chimera ,Progenitor cell ,Gene ,030304 developmental biology ,0303 health sciences ,business.industry ,Cell Biology ,Hematology ,Transplantation ,Haematopoiesis ,030220 oncology & carcinogenesis ,Cancer research ,Stem cell ,Carcinogenesis ,business - Abstract
A recent clinical trial for adrenoleukodystrophy (ALD) showed the efficacy and safety of lentiviral vector (LV) gene transfer in hematopoietic stem progenitor cells. However, several common insertion sites (CIS) were found in patients' cells, suggesting that LV integrations conferred a selective advantage. We performed high-throughput LV integration site analysis on human hematopoietic stem progenitor cells engrafted in immunodeficient mice and found the same CISs reported in patients with ALD. Strikingly, most CISs in our experimental model and in patients with ALD cluster in megabase-wide chromosomal regions of high LV integration density. Conversely, cancer-triggering integrations at CISs found in tumor cells from γretroviral vector–based clinical trials and oncogene-tagging screenings in mice always target a single gene and are contained in narrow genomic intervals. These findings imply that LV CISs are produced by an integration bias toward specific genomic regions rather than by oncogenic selection.
- Published
- 2011
- Full Text
- View/download PDF
18. Cardiac-CT and Cardiac-MR examinations cost analysis, based on data of four Italian Centers
- Author
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Francesco De Cobelli, Giulia Casagranda, Demetrio Spanti, Giovanna Zanetti, M. Fusaro, Maurizio Centonze, Andrea Francesconi, Giuseppe Lorenzin, Filippo Cademartiri, Guido Ligabue, Centonze, M1, Lorenzin, G, Francesconi, A, Cademartiri, F, Casagranda, G, Fusaro, M, Ligabue, G, Zanetti, G, Spanti, D, DE COBELLI, Francesco, and Radiology & Nuclear Medicine
- Subjects
030204 cardiovascular system & hematology ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,Health personnel ,Indirect costs ,Work time ,0302 clinical medicine ,Nuclear Medicine and Imaging ,Surveys and Questionnaires ,Cost analysis ,medicine ,Revenue ,Humans ,Radiology, Nuclear Medicine and imaging ,Registries ,Cardiac MRI ,Tomography ,Cardiac-CT ,HTA ,Cardiovascular Diseases ,Italy ,Magnetic Resonance Imaging ,Tomography, X-Ray Computed ,Costs and Cost Analysis ,Radiology, Nuclear Medicine and Imaging ,Medicine (all) ,medicine.diagnostic_test ,business.industry ,Interventional radiology ,General Medicine ,medicine.disease ,X-Ray Computed ,Accounting information system ,Amortization ,Medical emergency ,Radiology ,business - Abstract
To establish the appropriate number of Cardiac-CT and Cardio-MR examinations, to determine an economically justified and sustainable investment in these two technologies, for an exclusive cardiologic use. From July 2013 to July 2014, through a survey in four different Italian Departments of Radiology, data on the costs of Cardiac-CT and Cardiac-MR examinations were collected. For the evaluation of the costs of examinations, it was used an analytical accounting system, considering only the direct costs (consumables, health personnel work time, equipment amortization/maintenance) and other costs (utilities, services, etc.). Indirect costs (general costs) were not assessed. It was made a simulation, assuming an exclusive use of the CT and MR equipments for Cardiac-CT and Cardiac-MR examinations, calculating the annual number necessary to arrive at the Break Even Point (BEP: the point at which cost or expenses and revenue are equal). On the basis of the CT costs, in order to reach the BEP, performing only Cardiac-CT examinations, an average of 2641–2752 examinations/year is needed. The annual time commitment of the Medical Professional to ensure the number of examinations to reach the BEP is 2625–2750 h/year, equivalent to two Medical Doctors in a Cardiology Department. The recent Cardiac-CT Italian Registry, in the period January–June 2011, reports a number of examinations of 3455 patients in 47 different Centers, distributed throughout the whole national territory. With regard to MR, in order to reach the BEP, performing only Cardiac-MR examinations, an average of 2435–3123 examinations/year is needed. The annual time commitment of the Medical Professional to ensure the number of examinations to reach the BEP is 2437–3125 h/year, equivalent to two Medical Doctors in a Cardiology Department. The recent Cardiac-MR Italian Registry reports a number of examinations of 3776 patients in 40 Centers, distributed throughout the whole national territory. This research has shown that, only on the basis of costs, currently in Italy is anti-economic an exclusive use of CT or MR equipment for cardiac exams, unless it’s not decided, regardless of the recent guidelines and clinical indications, to submit all patients with cardiac diseases (diseases of the coronary arteries and cardiomyopathies) to Cardiac-CT and Cardiac-MR examinations. This might likely to increase both the inappropriate examinations and either health spending and in the case of CT with important repercussions, in terms of radio-exposure, subject to forensic procedures.
- Published
- 2015
19. Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
- Author
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Simone Leo, Tiziana Plati, Sabrina Canale, Miriam Casiraghi, Laura Lorioli, Nabil Kabbara, Nalini Mehta, Christof von Kalle, Luigi Naldini, Maria Grazia Roncarolo, Fabio Ciceri, Sabata Martino, Luca Biasco, Maria Pia Cicalese, Maria Sessa, Francesca Fumagalli, Jason P. Gardner, Eugenio Montini, Ubaldo Del Carro, Andrea Calabria, Victor Neduva, Attilio Rovelli, Jaap Jan Boelens, Clelia Di Serio, Gianluigi Zanetti, Cristina Baldoli, Martina Cesani, Alessandro Aiuti, Elia Stupka, Fabrizio Benedicenti, Claudio Bordignon, Alessandra Biffi, Manfred Schmidt, Andrea Assanelli, William B. Rizzo, Giuliana Vallanti, David J. Dow, Biffi, A, Montini, E, Lorioli, L, Cesani, M, Fumagalli, F, Plati, T, Baldoli, C, Martino, S, Calabria, A, Canale, S, Benedicenti, F, Vallanti, G, Biasco, L, Leo, S, Kabbara, N, Zanetti, G, Rizzo, Wb, Mehta, Na, Cicalese, Mp, Casiraghi, M, Boelens, Jj, Del Carro, U, Dow, Dj, Schmidt, M, Assanelli, A, Neduva, V, DI SERIO, Mariaclelia, Stupka, E, Gardner, J, von Kalle, C, Bordignon, Claudio, Ciceri, Fabio, Rovelli, A, Roncarolo, MARIA GRAZIA, Aiuti, Alessandro, Sessa, M, and Naldini, Luigi
- Subjects
Arylsulfatase A ,medicine.medical_treatment ,Genetic enhancement ,Virus Integration ,Genetic Vectors ,lysosomal enzymes ,Hematopoietic stem cell transplantation ,lipid storage restoration ,Biology ,03 medical and health sciences ,Transduction ,0302 clinical medicine ,Genetic ,Transduction, Genetic ,Lysosomal storage disease ,medicine ,Humans ,Cerebroside-Sulfatase ,030304 developmental biology ,0303 health sciences ,Multidisciplinary ,arylsulfatase A activity in CSF ,Leukodystrophy ,Lentivirus ,Hematopoietic Stem Cell Transplantation ,Hematopoietic stem cell ,Brain ,Genetic Therapy ,Leukodystrophy, Metachromatic ,Metachromatic ,medicine.disease ,Hematopoietic Stem Cells ,Magnetic Resonance Imaging ,3. Good health ,Metachromatic leukodystrophy ,Transplantation ,medicine.anatomical_structure ,Treatment Outcome ,Immunology ,Genetic Engineering ,030217 neurology & neurosurgery ,DNA Damage ,Follow-Up Studies - Abstract
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. Patients with MLD exhibit progressive motor and cognitive impairment and die within a few years of symptom onset. We used a lentiviral vector to transfer a functional ARSA gene into hematopoietic stem cells (HSCs) from three presymptomatic patients who showed genetic, biochemical, and neurophysiological evidence of late infantile MLD. After reinfusion of the gene-corrected HSCs, the patients showed extensive and stable ARSA gene replacement, which led to high enzyme expression throughout hematopoietic lineages and in cerebrospinal fluid. Analyses of vector integrations revealed no evidence of aberrant clonal behavior. The disease did not manifest or progress in the three patients 7 to 21 months beyond the predicted age of symptom onset. These findings indicate that extensive genetic engineering of human hematopoiesis can be achieved with lentiviral vectors and that this approach may offer therapeutic benefit for MLD patients. Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. Patients with MLD exhibit progressive motor and cognitive impairment and die within a few years of symptom onset. We used a lentiviral vector to transfer a functional ARSA gene into hematopoietic stem cells (HSCs) from three presymptomatic patients who showed genetic, biochemical, and neurophysiological evidence of late infantile MLD. After reinfusion of the gene-corrected HSCs, the patients showed extensive and stable ARSA gene replacement, which led to high enzyme expression throughout hematopoietic lineages and in cerebrospinal fluid. Analyses of vector integrations revealed no evidence of aberrant clonal behavior. The disease did not manifest or progress in the three patients 7 to 21 months beyond the predicted age of symptom onset. These findings indicate that extensive genetic engineering of human hematopoiesis can be achieved with lentiviral vectors and that this approach may offer therapeutic benefit for MLD patients. "\"\\\"\\\\\\\"\\\\\\\\\\\\\\\"\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\"\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\"Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. Patients with MLD exhibit progressive motor and cognitive impairment and die within a few years of symptom onset. We used a lentiviral vector to transfer a functional ARSA gene into hematopoietic stem cells (HSCs) from three presymptomatic patients who showed genetic, biochemical, and neurophysiological evidence of late infantile MLD. After reinfusion of the gene-corrected HSCs, the patients showed extensive and stable ARSA gene replacement, which led to high enzyme expression throughout hematopoietic lineages and in cerebrospinal fluid. Analyses of vector integrations revealed no evidence of aberrant clonal behavior. The disease did not manifest or progress in the three patients 7 to 21 months beyond the predicted age of symptom onset. These findings indicate that extensive genetic engineering of human hematopoiesis can be achieved with lentiviral vectors and that this approach may offer therapeutic benefit for MLD patients.\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\"\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\"\\\\\\\\\\\\\\\"\\\\\\\"\\\"\""
- Published
- 2013
20. Primary cell cultures from human renal cortex and renal-cell carcinoma evidence a differential expression of two spliced isoforms of Annexin A3
- Author
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G. Zanetti, Francesca Raimondo, Marina Pitto, Cristina Bianchi, Fulvio Magni, Valentina Angeloni, Vitalba Di Stefano, Paolo Mocarelli, Roberto A. Perego, Ingrid Cifola, Clizia Chinello, Silvia Bombelli, Paolo Brambilla, Barbara Torsello, Stefano Ferrero, Lara Invernizzi, Bianchi, C, Bombelli, S, Raimondo, F, Torsello, B, Angeloni, V, Ferrero, S, DI STEFANO, V, Chinello, C, Cifola, I, Invernizzi, L, Brambilla, P, Magni, F, Pitto, M, Zanetti, G, Mocarelli, P, and Perego, R
- Subjects
Gene isoform ,Adult ,Male ,Pathology ,medicine.medical_specialty ,Kidney Cortex ,Renal cortex ,cell coltures ,Down-Regulation ,carcinoma ,Biology ,Kidney ,urologic and male genital diseases ,Pathology and Forensic Medicine ,Western blot ,Renal cell carcinoma ,medicine ,Humans ,Protein Isoforms ,renal-cell carcinoma ,spliced isoform ,Primary cell culture ,Hypoxia ,Carcinoma, Renal Cell ,Annexin A3 ,Aged ,Aged, 80 and over ,Tissue microarray ,medicine.diagnostic_test ,Alternative splicing ,MED/04 - PATOLOGIA GENERALE ,isoforms ,AnnexinA3 ,Middle Aged ,medicine.disease ,Prognosis ,RCC ,Molecular biology ,female genital diseases and pregnancy complications ,Kidney Neoplasms ,Gene Expression Regulation, Neoplastic ,medicine.anatomical_structure ,Cell culture ,Female ,Regular Articles - Abstract
Primary cell cultures from renal cell carcinoma (RCC) and normal renal cortex tissue of 60 patients have been established, with high efficiency (more than 70%) and reproducibility, and extensively characterized. These cultures composed of more than 90% of normal or tumor tubular cells have been instrumental for molecular characterization of Annexin A3 (AnxA3), never extensively studied before in RCC cells although AnxA3 has a prognostic relevance in some cancer and it has been suggested to be involved in the hypoxia-inducible factor-1 pathway. Western blot analysis of 20 matched cortex/RCC culture lysates showed two AnxA3 protein bands of 36 and 33 kDa, and two-dimensional Western blot evidenced several specific protein spots. In RCC cultures the 36-kDa isoform was significantly down-regulated and the 33-kDa isoform up-regulated. Furthermore, the inversion of the quantitative expression pattern of two AnxA3 isoforms in tumor cultures correlate with hypoxia-inducible factor-1 alpha expression. The total AnxA3 protein is down-regulated in RCC cultures as confirmed also in tissues by tissue microarray. Two AnxA3 transcripts that differ for alternative splicing of exon III have been also detected. Real-time PCR quantification in 19 matched cortex/RCC cultures confirms the down-regulation of longer isoform in RCC cells. The characteristic expression pattern of AnxA3 in normal and tumor renal cells, documented in our primary cultures, may open new insight in RCC management. (Ant J Pathol 2010, 176:1660-1670; DOI: 10.2353/ajpath.2010.090402)
- Published
- 2010
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