5 results on '"Gianelli, L"'
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2. Felbamate in therapy-resistant epilepsy: An Italian experience
- Author
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Avanzini, G, Canger, R, Dallabernardina, B, Vigevano, F, Aguglia, U, Albano, C, Antonini, L, Battaglia, S, Battino, D, Benna, P, Besana, D, Antonelli, C, Binelli, S, Biondi, R, Boniver, C, Buti, D, Canziani, F, Capovilla, G, Casara, G, Casazza, M, Cernibori, A, Chindemi, A, Cianchetti, C, Cilio, Mr, Coppola, G, Cremonte, M, Dagostino, V, Daniele, O, Demarco, P, Demaria, G, Dicosmo, F, Diperri, R, Durisotti, C, Elia, M, Fois, A, Fontana, E, Franceschetti, S, Gaggero, R, Galeone, D, Gallitto, Giuseppe, Gianelli, L, Rossi, Pg, Giubergia, S, Gobbi, G., Guarneri, B., La Selva, L., Lanzi, G., Laurienzo, P., Lenti, C., Lunardi, G., Magaudda, A., Mangano, S., Marchini, C., Mecarelli, O., Michelucci, R., Muscas, G. C., Musetti, L., Musolino, R., Mutani, R., Parmeggiani, A., Pascotto, A., Pasquinelli, A., Pelliccia, A., Perniola, T., Pisani, F., Porta, M., Radice, L., Ricci, G. F., Ricci, S., Romeo, A., Rozza, L., Rozzi, N., Santucci, M., Sardella, M., Sasso, E., Severi, S., Sgrò, V., Sofia, V., Specchio, L., Spreafico, R., Striano, S., Tassinari, C., Tiacci, C., Tiberti, A., Tinuper, P., Torelli, D., Tortorella, G., Valseriati, D., Veggiotti, P., Viani, F., Vignoli, A., Viri, M., Volpi, L., Zaccara, G., Zagnoni, P., Zambrino, A., Zappoli, R., Zucca, C., Zuddas, A., Bonardi, R., Jensen, P, Kwan, R., and Teoh, N.
- Published
- 1996
3. Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome
- Author
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Giuseppe Ciconte, Emanuela T Locati, Luigi Giannelli, Nicoletta Resta, Luigi Anastasia, Valeria Borrelli, Michelle M. Monasky, Gabriele Vicedomini, Andrea Ghiroldi, Chiara Di Resta, Rosanna Bagnulo, Sara Benedetti, Maurizio Ferrari, Carlo Pappone, Emanuele Micaglio, Micaglio, E, Monasky, M M, Resta, N, Bagnulo, R, Ciconte, G, Gianelli, L, Locati, E T, Vicedomini, G, Borrelli, V, Ghiroldi, A, Anastasia, L, Benedetti, S, Di Resta, C, Ferrari, M, and Pappone, C
- Subjects
0301 basic medicine ,Male ,Genetic testing ,family ,Case Report ,030204 cardiovascular system & hematology ,Sudden cardiac death ,NAV1.5 Voltage-Gated Sodium Channel ,lcsh:Chemistry ,0302 clinical medicine ,Channelopathy ,lcsh:QH301-705.5 ,Spectroscopy ,SCN5A ,Brugada syndrome ,Genetics ,medicine.diagnostic_test ,Sodium channel ,scn5a ,General Medicine ,Middle Aged ,Computer Science Applications ,Pedigree ,Codon, Nonsense ,Mutation (genetic algorithm) ,Female ,Arrhythmia ,point-nonsense mutation ,Human ,sodium channel ,Adult ,Nonsense mutation ,Biology ,arrhythmia ,Catalysis ,sudden cardiac death ,genetic testing ,Inorganic Chemistry ,03 medical and health sciences ,channelopathy ,medicine ,Family ,Functional studies ,Physical and Theoretical Chemistry ,Molecular Biology ,Gene ,Organic Chemistry ,fungi ,Point-nonsense mutation ,medicine.disease ,030104 developmental biology ,lcsh:Biology (General) ,lcsh:QD1-999 ,Mutation ,mutation ,brugada syndrome - Abstract
Brugada syndrome (BrS) is marked by an elevated ST-segment elevation and increased risk of sudden cardiac death. Variants in the SCN5A gene are considered to be molecular confirmation of the syndrome in about one third of cases, while the genetics remain a mystery in about half of the cases, with the remaining cases being attributed to variants in any of a number of genes. Before research models can be developed, it is imperative to understand the genetics in patients. Even data from humans is complicated, since variants in the most common gene in BrS, SCN5A, are associated with a number of pathologies, or could even be considered benign, depending on the variant. Here, we provide crucial human data on a novel NM_198056.2:c.2091G>A (p.Trp697X) point-nonsense heterozygous variant in the SCN5A gene, as well as its segregation with BrS. The results herein suggest a pathogenic effect of this variant. These results could be used as a stepping stone for functional studies to better understand the molecular effects of this variant in BrS.
- Published
- 2019
4. Inverse relationship between scores on the quality of life questionnaire SF-12 and on the Aging Males' Symptoms scale in Italian men
- Author
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Giorgio Valenti, Massimo Capone, Gianni Forti, Marco Grasso, Vicenzo Mirone, Francesca Chiaffarino, Elena Ricci, Gianluca Appiani, Emilio Corti, Davide Fabbrica, Enzo Ferrario, Sergio Ghezzi, Marco Grendele, Paolo Maroni, Gianbattista Mazzoleni, Mario Nicolussi, Antonio Pinnavaria, Alberto Rossi, Vittorino Sala, Silvana Santoro, Gaetano Autore, Giovanni Avvento, Roberto Barra, Dario Brunetti, Aurelio Catalano, Vincenzo Girardi, Giuseppe Iovane, Federico Lettieri, Sergio Marescotti, Nicola Pelaggi, Gennaro Sica, Stefano Delcanale, Beatrice M. Gorreri, Carlo Maini, Fabrizio Peri, Emilio Sani, Mario Sisto, Anita Sullam, Giovanni Zanardi, Giuseppe Burgio, Alessandro Bussotti, Lucia Caldini, Lucia Gianelli, Nadia Gianni, Massimo Giuntoli, Massimo Guarducci, Alessio Nastruzzi, Rachele Pacileo, Riccardo Pirozzi, Lorenzo Pisani, Maurizio Puliti, Paola Rafanelli, Paolo Baron, Filippo Cocomazzi, Giovanni Cominetti, Gianfranco Matera, Gianfranco Panizzo, Denis Podrecca, Ivana Rupalti, Paolo Spagnul, Laura Ivana Tonelli, Onorino Venturini, Claudio Nardo, Fabio Parazzini, null Aging Male Italian Epidemiological, Valenti, G, Capone, M, Forti, G, Grasso, M, Mirone, Vincenzo, Chiaffarino, F, Ricci, E, Appiani, G, Corti, E, Fabbrica, D, Ferrario, E, Ghezzi, S, Grendele, M, Maroni, P, Mazzoleni, G, Nicolussi, M, Pinnavaria, A, Rossi, A, Sala, V, Santoro, S, Autore, G, Avvento, G, Barra, R, Brunetti, D, Catalano, A, Girardi, V, Iovane, G, Lettieri, F, Marescotti, S, Pelaggi, N, Sica, G, Delcanale, S, Gorreri, Bm, Maini, C, Peri, F, Sani, E, Sisto, M, Sullam, A, Zanardi, G, Burgio, G, Bussotti, A, Caldini, L, Gianelli, L, Gianni, N, Giuntoli, M, Guarducci, M, Nastruzzi, A, Pacileo, R, Pirozzi, R, Pisani, L, Puliti, M, Rafanelli, P, Baron, P, Cocomazzi, F, Cominetti, G, Matera, G, Panizzo, G, Podrecca, D, Rupalti, I, Spagnul, P, Tonelli, Li, Venturini, O, Nardo, C, Parazzini, F, and Aging Male Italian Epidemiological Study, G. r. o. u. p.
- Subjects
Gerontology ,Male ,medicine.medical_specialty ,Aging ,Cross-sectional study ,Quality of life ,Risk Factors ,Diabetes mellitus ,Surveys and Questionnaires ,Epidemiology ,medicine ,Humans ,Myocardial infarction ,Aged ,business.industry ,Odds ratio ,Middle Aged ,medicine.disease ,Increased risk ,Cross-Sectional Studies ,Italy ,Cardiovascular Diseases ,Scale (social sciences) ,Physical therapy ,Quality of Life ,Geriatrics and Gerontology ,business - Abstract
To analyse the relation between results of the Aging Males' Symptoms (AMS) questionnaire for aging males, and of quality of life (QOL) questionnaire SF-12 and cardiovascular risk factors.1,927 men aged 55-85 years were interviewed by 56 general practitioners. During the interview the men were asked to fill in the AMS scale and the QOL questionnaire SF-12.Of 1,927 men 1,806 men filled correctly the AMS questionnaire. The mean SF-12 mental index was respectively 55.9 in men with a total AMS score indicating no impairment, 50.9 mild, 42.8 moderate, and 32.8 severe impairment. The corresponding values for the physical index were 51.2, 46.7, 40.8 and 32.3. A history of diabetes was associated with an increased risk of reporting moderate/severe impairment: in relation to the total AMS score the odds ratio, (OR), of moderate/severe impairment in comparison with no impairment was 1.6 (95%CI 1.2-2.1). A history of myocardial infarction and hypertension increased the risk (respectively OR 1.4 (95%CI 1.1-18) and 1.7 (95%CI 1.2-2.4)).This study shows that higher AMS scores are associated with lower SF-12 indices and suggests that elevated values of the AMS score are associated with cardiovascular risk factors or diseases.
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- 2008
5. Selectivity in the peroxidase catalyzed oxidation of phenolic sulfides
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Luigi Casella, Noura Gaiji, Stefano Colonna, Michele Gullotti, Antonio De Riso, Enrico Monzani, Antonella Profumo, Luca Gianelli, Luca De Gioia, De Riso, A, Gullotti, M, Casella, L, Monzani, E, Profumo, A, Gianelli, L, DE GIOIA, L, Gaiji, N, and Colonna, S
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biology ,alkylthiophenol ,Process Chemistry and Technology ,Lactoperoxidase ,Active site ,Sulfoxide ,peroxidase ,hydrogen peroxide ,docking calculations ,Horseradish peroxidase ,Catalysis ,chemistry.chemical_compound ,chemistry ,Polymer chemistry ,biology.protein ,Organic chemistry ,Oxidative coupling of methane ,Phenols ,Physical and Theoretical Chemistry ,Hydrogen peroxide ,paramagnetic NMR relaxation - Abstract
The catalytic oxidation of ortho- and para-alkylthiophenols, carrying methyl or ethyl substituents at sulfur, by lactoperoxidase (LPO), horseradish peroxidase (HRP) or chloroperoxidase (CPO), in the presence of hydrogen peroxide, has been investigated. HPP and CPO are active toward these substrates, whereas LPO is only active with the ortho-substituted compounds. The enzymatic solutions containing ortho-alkylthiophenols develop an intense blue color (with optical absorptions near 400 and 600nm) that is attributed to the formation of relatively stable dimeric three-electron bonded complexes resulting from the association of enzyme-derived radical cations with the phenolic sulfide. The products of the enzymatic reactions by HRP and LPO are oligomers resulting from phenol oxidative coupling reactions and the sulfoxide, with minor amounts of oligomers containing mono or disulfoxide functionalities. With CPO the major product is always the sulfoxide, while phenol coupling products are formed in minor amounts. The selectivity exhibited by LPO toward 2- and 4-methylthiophenol has been investigated through binding experiments, NMR relaxation measurements of LPO-substrate complexes and docking calculations. The para-isomer binds much more strongly than the ortho-isomer to the enzymes. The stronger binding depends on the establishment of hydrogen bonding interactions with protein residues in the active site. (C) 2003 Elsevier Science B.V. All rights reserved.
- Published
- 2003
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