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2. Deciphering the state of immune silence in fatal COVID-19 patients

Author

Bost, P, De Sanctis, F, Cane, S, Ugel, S, Donadello, K, Castellucci, M, Eyal, D, Fiore, A, Anselmi, C, Barouni, R, Trovato, R, Caligola, S, Lamolinara, A, Iezzi, M, Facciotti, F, Mazzariol, A, Gibellini, D, De Nardo, P, Tacconelli, E, Gottin, L, Polati, E, Schwikowski, B, Amit, I, Bronte, V, Bost P., De Sanctis F., Cane S., Ugel S., Donadello K., Castellucci M., Eyal D., Fiore A., Anselmi C., Barouni R. M., Trovato R., Caligola S., Lamolinara A., Iezzi M., Facciotti F., Mazzariol A., Gibellini D., De Nardo P., Tacconelli E., Gottin L., Polati E., Schwikowski B., Amit I., Bronte V., Bost, P, De Sanctis, F, Cane, S, Ugel, S, Donadello, K, Castellucci, M, Eyal, D, Fiore, A, Anselmi, C, Barouni, R, Trovato, R, Caligola, S, Lamolinara, A, Iezzi, M, Facciotti, F, Mazzariol, A, Gibellini, D, De Nardo, P, Tacconelli, E, Gottin, L, Polati, E, Schwikowski, B, Amit, I, Bronte, V, Bost P., De Sanctis F., Cane S., Ugel S., Donadello K., Castellucci M., Eyal D., Fiore A., Anselmi C., Barouni R. M., Trovato R., Caligola S., Lamolinara A., Iezzi M., Facciotti F., Mazzariol A., Gibellini D., De Nardo P., Tacconelli E., Gottin L., Polati E., Schwikowski B., Amit I., and Bronte V.

Abstract

Since the beginning of the SARS-CoV-2 pandemic, COVID-19 appeared as a unique disease with unconventional tissue and systemic immune features. Here we show a COVID-19 immune signature associated with severity by integrating single-cell RNA-seq analysis from blood samples and broncho-alveolar lavage fluids with clinical, immunological and functional ex vivo data. This signature is characterized by lung accumulation of naïve lymphoid cells associated with a systemic expansion and activation of myeloid cells. Myeloid-driven immune suppression is a hallmark of COVID-19 evolution, highlighting arginase-1 expression with immune regulatory features of monocytes. Monocyte-dependent and neutrophil-dependent immune suppression loss is associated with fatal clinical outcome in severe patients. Additionally, our analysis shows a lung CXCR6+ effector memory T cell subset is associated with better prognosis in patients with severe COVID-19. In summary, COVID-19-induced myeloid dysregulation and lymphoid impairment establish a condition of ‘immune silence’ in patients with critical COVID-19.

Published
2021

5. Baricitinib restrains the immune dysregulation in severe COVID-19

Author

Bronte V, Ugel S, Tinazzi E, Vella A, De Sanctis F, Canè S, Batani V, Trovato R, Fiore A, Petrova V, Hofer F, Barouni RM, Musiu C, Caligola S, Pinton L, Torroni L, Polati E, Donadello K, Friso S, Pizzolo F, Iezzi M, Facciotti F, Pelicci PG, Righetti D, Bazzoni P, Rampudda M, Comel AC, Mosaner W, Lunardi C, Olivieri O., Bronte, V, Ugel, S, Tinazzi, E, Vella, A, De Sanctis, F, Canè, S, Batani, V, Trovato, R, Fiore, A, Petrova, V, Hofer, F, Barouni, R, Musiu, C, Caligola, S, Pinton, L, Torroni, L, Polati, E, Donadello, K, Friso, S, Pizzolo, F, Iezzi, M, Facciotti, F, Pelicci, P, Righetti, D, Bazzoni, P, Rampudda, M, Comel, A, Mosaner, W, Lunardi, C, and Olivieri, O

Subjects
SARS-CoV-2, COVID-19 patients, cytokine storm, immune modulation, JAK/STAT
Abstract

BACKGROUND. Patients with coronavirus disease 2019 (COVID-19) develop pneumonia generally associated with lymphopenia and a severe inflammatory response due to uncontrolled cytokine release. These mediators are transcriptionally regulated by the JAK/ STAT signaling pathways, which can be disabled by small molecules. METHODS. We treated a group of patients (n = 20) with baricitinib according to an off-label use of the drug. The study was designed as an observational, longitudinal trial and approved by the local ethics committee. The patients were treated with 4 mg baricitinib twice daily for 2 days, followed by 4 mg per day for the remaining 7 days. Changes in the immune phenotype and expression of phosphorylated STAT3 (p-STAT3) in blood cells were evaluated and correlated with serum-derived cytokine levels and antibodies against severe acute respiratory syndrome–coronavirus 2 (anti–SARS-CoV-2). In a single treated patient, we also evaluated the alteration of myeloid cell functional activity. RESULTS. We provide evidence that patients treated with baricitinib had a marked reduction in serum levels of IL-6, IL-1β, and TNF-α, a rapid recovery of circulating T and B cell frequencies, and increased antibody production against the SARS-CoV-2 spike protein, all of which were clinically associated with a reduction in the need for oxygen therapy and a progressive increase in the P/F (PaO2, oxygen partial pressure/FiO2, fraction of inspired oxygen) ratio. CONCLUSION. These data suggest that baricitinib prevented the progression to a severe, extreme form of the viral disease by modulating the patients’ immune landscape and that these changes were associated with a safer, more favorable clinical outcome for patients with COVID-19 pneumonia.

Published
2020

6. Ngs in hereditary ataxia: When rare becomes frequent

Author

Galatolo, D., De Michele, G., Silvestri, Gabriella, Leuzzi, V., Casali, C., Musumeci, O., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Caputi, C., Cioffi, E., Dotti, M. T., Fico, T., Fiorillo, C., Galosi, S., Lieto, M., Malandrini, A., Melone, M. A. B., Mignarri, A., Natale, G., Pegoraro, E., Petrucci, A., Ricca, I., Riso, V., Rossi, Salvatore, Rubegni, A., Scarlatti, A., Tinelli, F., Trovato, R., Tedeschi, G., Tessa, A., Filla, A., Santorelli, F. M., Silvestri G. (ORCID:0000-0002-1950-1468), Rossi S., Galatolo, D., De Michele, G., Silvestri, Gabriella, Leuzzi, V., Casali, C., Musumeci, O., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Caputi, C., Cioffi, E., Dotti, M. T., Fico, T., Fiorillo, C., Galosi, S., Lieto, M., Malandrini, A., Melone, M. A. B., Mignarri, A., Natale, G., Pegoraro, E., Petrucci, A., Ricca, I., Riso, V., Rossi, Salvatore, Rubegni, A., Scarlatti, A., Tinelli, F., Trovato, R., Tedeschi, G., Tessa, A., Filla, A., Santorelli, F. M., Silvestri G. (ORCID:0000-0002-1950-1468), and Rossi S.

Abstract

The term hereditary ataxia (HA) refers to a heterogeneous group of neurological disorders with multiple genetic etiologies and a wide spectrum of ataxia‐dominated phenotypes. Massive gene analysis in next‐generation sequencing has entered the HA scenario, broadening our genetic and clinical knowledge of these conditions. In this study, we employed a targeted resequencing panel (TRP) in a large and highly heterogeneous cohort of 377 patients with a clinical diagnosis of HA, but no molecular diagnosis on routine genetic tests. We obtained a positive result (genetic diagnosis) in 33.2% of the patients, a rate significantly higher than those reported in similar studies employing TRP (average 19.4%), and in line with those performed using exome sequencing (ES, average 34.6%). Moreover, 15.6% of the patients had an uncertain molecular diagnosis. STUB1, PRKCG, and SPG7 were the most common causative genes. A comparison with published literature data showed that our panel would have identified 97% of the positive cases reported in previous TRP‐based studies and 92% of those diagnosed by ES. Proper use of multigene panels, when combined with detailed phenotypic data, seems to be even more efficient than ES in clinical practice.

Published
2021

7. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

Author

Lieto, M., Riso, Vittorio, Galatolo, D., De Michele, G., Rossi, S., Barghigiani, M., Cocozza, S., Pontillo, G., Trovato, R., Sacca, F., Salvatore, E., Tessa, A., Filla, A., Santorelli, F. M., Silvestri, Gabriella, Riso V., Silvestri G. (ORCID:0000-0002-1950-1468), Lieto, M., Riso, Vittorio, Galatolo, D., De Michele, G., Rossi, S., Barghigiani, M., Cocozza, S., Pontillo, G., Trovato, R., Sacca, F., Salvatore, E., Tessa, A., Filla, A., Santorelli, F. M., Silvestri, Gabriella, Riso V., and Silvestri G. (ORCID:0000-0002-1950-1468)

Abstract

Background and purpose: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48. Methods: Molecular screening was performed in a cohort of 235 unrelated patients with adult-onset, autosomal dominant (17) or sporadic (218) cerebellar ataxia, negative for pathological trinucleotide expansions in the common SCAs, FRDA and FXTAS loci, by using targeted multigene panels or whole-exome sequencing. Bioinformatics analyses, detailed neurological phenotyping and family segregation studies corroborated the pathogenicity of the novel STUB1 mutations. Clinico-diagnostic findings were reviewed to define the phenotypic spectrum. Results: Eight heterozygous STUB1 mutations were identified, six of which were novel in 11 patients from eight index families, giving an estimated overall frequency of 3.4% (8/235) for SCA48 in our study cohort, rising to 23.5% (4/17) when considering only familial cases. All our SCA48 patients had cerebellar ataxia and dysarthria associated with cerebellar atrophy on brain magnetic resonance imaging; of note, many cases were also associated with parkinsonism, chorea and dystonia. CCAS also occurred frequently, whereas definite signs of pyramidal tract dysfunction and peripheral nervous system involvement were absent. One SCA48 patient presented with hypogonadism, associated with other autoimmune endocrine dysfunctions. Conclusions: Our results support SCA48 as a significant cause of adult-onset SCA. Besides CCAS, our SCA48 patients often showed movement disorders and other clinical manifestations previously described in SCAR16, linked to biallelic variants in the same gene, thus suggesting a continuous clinical spectrum and significant overlap amongst recessive and dominantly inherited mutations in STUB1.

Published
2020

11. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Author

Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I., Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A., Santorelli, F. M., Italian CMD Network, Berardinelli, A., Comi, G., Donati, M. A., Dotti, M., Grandis, M., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Merlini, L., Moggio, M., Morandi, L. O., Musumeci, O., Pane, M., Pini, A., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Siciliano, G., Simonati, A., Tonin, P., Toscano, A., Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fattori, Fabiana, Fiorillo, Chiara, Guerrini, Renzo, Maggi, Lorenzo, Mercuri, Eugenio, Morani, Federica, Mora, Marina, Moro, Francesca, Pezzini, Ilaria, Picillo, Esther, Pinelli, Michele, Politano, Luisa, Rubegni, Anna, Sanseverino, Walter, Savarese, Marco, Striano, Pasquale, Torella, Annalaura, Trevisan, Carlo Pietro, Trovato, Rosanna, Zaraieva, Irina, Muntoni, Francesco, Nigro, Vincenzo, D'Amico, Adele, Santorelli, Filippo M., Berardinelli, Angela, Comi, Giacomo, Donati, Maria Alice, Dotti, Maria Teresa, Grandis, Marina, Magri, Francesca, Maioli, Maria A, Malandrini, Alessandro, Mari, Francesco, Massa, Roberto, Merlini, Luciano, Moggio, Maurizio, Morandi, Lucia O, Musumeci, Olimpia, Pane, Marika, Pini, Antonella, Pegoraro, Elena, Pennisi, Elena M, Peverelli, Lorenzo, Ricci, Giulia, Rodolico, Carmelo, Ruggiero, Lucia, Sacchini, Michele, Santoro, Lucio, Siciliano, Gabriele, Simonati, Alessandro, Tonin, Paola, Toscano, Antonio, Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I., Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A., Santorelli, F. M., Berardinelli, A., Comi, G., Donati, M. A., Dotti, M. T., Grandis, M., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Merlini, L., Moggio, M., Morandi, L. O., Musumeci, O., Pane, M., Pini, A., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, Lucio., Siciliano, G., Simonati, A., Tonin, P., Toscano, A., Department of Medical and Clinical Genetics, and Medicum

Subjects
0301 basic medicine, Male, Genotype-phenotype correlation, Dystriglycanopathies, lcsh:Medicine, GMPPB, Genotype-phenotype correlations, Dystroglycanopathie, Nucleotidyltransferase, Muscular Dystrophies, Limb-Girdle, 0302 clinical medicine, Missense mutation, Pharmacology (medical), Dystroglycan, Muscular dystrophy, Dystroglycans, Muscular Dystrophie, Genetics (clinical), Genetics, Arthrogryposis, education.field_of_study, 1184 Genetics, developmental biology, physiology, General Medicine, Middle Aged, Nucleotidyltransferases, Dystroglycanopathies, 3. Good health, Congenital muscular dystrophy, Female, Limb-girdle muscular dystrophy, medicine.symptom, Human, Adult, Population, Mutation, Missense, Genetic Association Studie, Biology, Settore MED/26, Aged, Cross-Sectional Studies, Genetic Association Studies, Humans, Muscular Dystrophies, Limb-Girdle, Mutation, Young Adult, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Congenital muscular dystrophy, Dystroglycanopathies, Genotype-phenotype correlations, GMPPB, Limb-girdle muscular dystrophy, Genetics (clinical), Pharmacology (medical), medicine, Congenital muscular dystrophy, Dystroglycanopathies, Genotype-phenotype correlations, GMPPB, Limb-girdle muscular dystrophy, Myopathy, education, SERVER, Cross-Sectional Studie, STABILITY, MUTATIONS, Genetic heterogeneity, Research, lcsh:R, medicine.disease, 030104 developmental biology, CONGENITAL MUSCULAR-DYSTROPHY, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, Missense, 030217 neurology & neurosurgery
Abstract

Background Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes. We re-sequenced the full set of known disease genes in 73 Italian patients with evidence of either reduced or nearly absent α-dystroglycan to assess genotype-phenotype correlations in this cohort. We used innovative bioinformatic tools to calculate the effects of all described GMPPB mutations on protein function and attempted to correlate them with phenotypic expressions. Results We identified 13 additional cases from 12 families and defined seven novel mutations. Patients displayed variable phenotypes including less typical pictures, ranging from asymptomatic hyperCKemia, to arthrogryposis and congenital clubfoot at birth, and also showed neurodevelopmental comorbidities, such as seizures and ataxic gait, as well as autism-spectrum disorder, which is seldom described in clinical reports of dystroglycanopathies. We also demonstrated that few mutations recur in the Italian GMPPB-mutated population and that alterations of protein stability are the main effects of GMPPB missense variants. Conclusion This work adds to the data on genotype-phenotype correlations in α-DG and offers new bionformatic tools to provide the conceptual framework needed to understand the complexity of these disorders. Electronic supplementary material The online version of this article (10.1186/s13023-018-0863-x) contains supplementary material, which is available to authorized users.

Published
2018

14. One-year experience of a regional service model of teleconsultation for planning and treatment of complex thoracoabdominal aortic disease

Author

Chisci, E, de Donato, G, Fargion, A, Ventoruzzo, G, Parlani, G, Setacci, C, Ercolini, L, Michelagnoli, S, Guidotti, A, Turini, F, Pigozzi, C, Alberti, A, Frosini, P, Barbanti, E, Romano, E, Troisi, N, Pratesi, C, Bellandi, G, Isernia, G, Simonte, G, Lenti, M, Verzini, F, Belcastro, M, Landini, R, Trovato, R, Galzerano, G, Casalino, A, Micheli, R, Ferilli, F, Berchiolli, R, Marconi, M, Ferrari, M, Invernizzi, C, Credi, G, Nottoli, J, Carbonari, L, Gatta, E, Cecchi, M, and Saccardi, S.

Subjects
Time Factors, 020205 medical informatics, Computed Tomography Angiography, Thoracic, Aorta, Thoracic, 02 engineering and technology, 030204 cardiovascular system & hematology, 0302 clinical medicine, Informed consent, Aortography, Clinical Decision-Making, Cooperative Behavior, Delivery of Health Care, Integrated, Feasibility Studies, Humans, Interdisciplinary Communication, Italy, Observer Variation, Predictive Value of Tests, Program Evaluation, Prospective Studies, Referral and Consultation, Regional Health Planning, Remote Consultation, Reproducibility of Results, Teleradiology, Treatment Outcome, Aorta, Abdominal, Aortic Diseases, Integrated, 0202 electrical engineering, electronic engineering, information engineering, Prospective cohort study, Aorta, Computed tomography angiography, medicine.diagnostic_test, Cardiothoracic surgery, Predictive value of tests, Radiology, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, Concordance, 03 medical and health sciences, medicine, Abdominal, Surgical team, Surgery, business.industry, General surgery, Angiography, business, Delivery of Health Care
Abstract

Objective The objective of this study was to report the methodology and 1-year experience of a regional service model of teleconsultation for planning and treatment of complex thoracoabdominal aortic disease (TAAD). Methods Complex TAADs without a feasible conventional surgical repair were prospectively evaluated by vascular surgeons of the same public health service (National Health System) located in a huge area of 22,994 km 2 with 3.7 million inhabitants and 11 tertiary hospitals. Surgeons evaluated computed tomography scans and clinical details that were placed on a web platform (Google Drive; Google, Mountain View, Calif) and shared by all surgeons. Patients gave informed consent for the teleconsultation. The surgeon who submits a case discusses in detail his or her case and proposes a possible therapeutic strategy. The other surgeons suggest other solutions and options in terms of grafts, techniques, or access to be used. Computed tomography angiography, angiography, and clinical outcomes of cases are then presented at the following telemeetings, and a final agreement of the operative strategy is evaluated. Teleconsultation is performed using a web conference service (WebConference.com; Avaya Inc, Basking Ridge, NJ) every month. An inter-rater agreement statistic was calculated, and the κ value was interpreted according to Altman's criteria for computed tomography angiography measurements. Results The rate of participation was constant (mean number of surgeons, 11; range, 9-15). Twenty-four complex TAAD cases were discussed for planning and operation during the study period. The interobserver reliability recorded was moderate (κ = 0.41-0.60) to good (κ = 0.61-0.80) for measurements of proximal and distal sealing and very good (κ = 0.81-1) for detection of any target vessel angulation >60 degrees, significant calcification (circumferential), and thrombus presence (>50%). The concordance for planning and therapeutic strategy among all participants was complete in 16 cases. In one case, the consultation was decisive for creating an innovative therapeutic strategy; in the remaining seven cases, the strategy proposed by the patient's surgeon was changed completely after the discussion. Technical success was the same (100%) if concordance in planning was present initially or not. Overall 6-month mortality was 4%, 0% for those patients with initial concordance in planning vs 12% for those without initial concordance ( P = .33). Surgery was always performed in a tertiary hospital by local surgeons, and in two cases (8%) external surgeons joined the local surgical team. Conclusions Such a regional service of teleconsultation may be of value in standardizing the treatment and derived costs of complex TAADs in a huge region under the same health provider. The shared decision-making strategy may be of medical-legal value as well.

Published
2018

15. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

Author

Lieto, M., primary, Riso, V., additional, Galatolo, D., additional, De Michele, G., additional, Rossi, S., additional, Barghigiani, M., additional, Cocozza, S., additional, Pontillo, G., additional, Trovato, R., additional, Saccà, F., additional, Salvatore, E., additional, Tessa, A., additional, Filla, A., additional, Santorelli, F. M., additional, and Silvestri, G., additional

Published
2019
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16. Intrinsic limits on resolutions in muon and electron-neutrino charged-current events in the KM3NeT/ORCA detector

Author

The KM3NeT collaboration, Adrián, Martínez, Ageron, S., Aiello, M., Albert, S., Ameli, A., Anassontzis, F., E. G., Andre, Androulakis, M., Anghinolfi, G., Anton, M., Ardid, G., Avgitas, M., Barbarino, T., Barbarito, G., Baret, E., Barrios, Mart, Belias, J., Berbee, A., van den Berg, Bertin, A., Beurthey, V., Van, Beveren, Beverini, V., Biagi, N., Biagioni, S., Billault, A., Bondì, M., Bormuth, M., Bouhadef, R., Bourlis, B., Bourret, G., Boutonnet, S., Bouwhuis, C., Bozza, M., Bruijn, C., Brunner, R., Buis, J., Buompane, E., Busto, R., Cacopardo, J., Caillat, G., Calamai, L., Calvo, M., Capone, D., Caramete, A., Cecchini, L., Celli, S., Champion, S., Cherubini, Silvio, Chiarella, V., Chiarelli, L., Chiarusi, T., Circella, M., Classen, L., Cobas, D., Cocimano, R., Coelho, J. A. B., Coleiro, A., Colonges, S., Coniglione, R., Cordelli, M., Cosquer, A., Coyle, P., Creusot, A., Cuttone, G., D’Amato, C., D’Amico, A., D’Onofrio, A., Bonis, De, Sio, De, Palma, Di, Díaz, I., A. F., Distefano, Donzaud, C., Dornic, C., Dorosti, Hasankiadeh, Drakopoulou, Q., Drouhin, E., Durocher, D., Eberl, M., Eichie, T., Van, Eijk, Bojaddaini, El, Elsaesser, I., Enzenhöfer, D., Favaro, A., Fermani, M., Ferrara, P., Frascadore, G., Furini, G., Fusco, M., L. A., Gal, Galatà, T., Garufi, S., Gay, F., Gebyehu, P., Giacomini, M., Gialanella, F., Giordano, L., Gizani, V., Gracia, N., Graf, R., Grégoire, K., Grella, T., Grmek, G., Guerzoni, A., Habel, M., Hallmann, R., Van, Haren, Harissopulos, H., Heid, S., Heijboer, T., Heine, A., Henry, E., Hernández, Rey, J. J., Hevinga, Hofestädt, M., Hugon, J., C. M. F., Illuminati, James, G., C. W., Jansweijerf, Jongen, P., Jong, De, Kadler, M., Kalekin, M., Kappes, O., Katz, A., U. F., Keller, Kieft, P., Kießling, G., Koffeman, D., E. N., Kooijman, Kouchner, P., Kreter, A., Kulikovskiy, M., Lahmann, V., Lamare, R., Larosa, P., Leisos, G., Leone, Francesco, Leonora, E., Lindsey, Clark, Liolios, M., Llorens, Alvarez, C. D., LO PRESTI, Domenico, Löhner, H., Lonardo, A., Lotze, M., Loucatos, S., Maccioni, E., Mannheim, K., Manzali, M., Margiotta, A., Margotti, A., Marinelli, A., Maris, O., Markou, C., Martínez, Mora, J. A., Martini, Marzaioli, A., Mele, F., Melis, R., K. W., Michael, Migliozzi, T., Migneco, P., Mijakowski, E., Miraglia, P., Mollo, A., C. M., Mongelli, Morganti, M., Moussa, M., Musico, A., Musumeci, P., Navas, M., Nicolau, S., C. A., Olcina, Olivetto, I., Orlando, C., Orzelli, A., Pancaldi, A., Papaikonomou, G., Papaleo, A., Păvălas, R., G. E., Peek, Pellegrini, H., Pellegrino, G., Perrina, C., Pfutzner, C., Piattelli, M., Pikounis, P., Pleinert, K., M. O., Poma, G. E., Popa, Pradier, V., Pratolongo, T., Pühlhofer, F., Pulvirenti, G., Quinn, S., Racca, L., Raffaelli, C., Randazzo, F., Rauch, N., Real, T., Resvanis, D., Reubelt, L., Riccobene, J., Rossi, G., Rovelli, C., Saldaña, A., Salvadori, M., Samtleben, I., D. F. E., Sánchez, García, Sánchez, Losa, Sanguineti, A., Santangelo, M., Santonocito, A., Sapienza, D., Schimmel, P., Schmelling, F., Schnabel, J., Sciacca, J., Sedita, V., Seitz, M., Sgura, T., Simeone, I., Sipala, F., Spisso, V., Spurio, B., Stavropoulos, M., Steijger, G., Stellacci, J., S. M., Stransky, Taiuti, D., Tayalati, M., Terrasi, Y., Tézier, F., Theraube, D., Timmer, S., Tönnis, P., Trasatti, C., Travaglini, L., Trovato, R., Tsirigotis, A., Tzamarias, A., Tzamariudaki, S., Vallage, E., Van, Elewyck, Vermeulen, V., Versari, J., Vicini, F., Viola, P., Vivolo, S., Volkert, D., Wiggers, M., Wilms, L., Wolf, De, Zachariadou, E., Zani, K., Zornoza, S., J. D., Zúñiga, KM3NeT (IHEF, IoP, FNWI), ATLAS (IHEF, IoP, FNWI), Research unit Astroparticle Physics, Research unit Nuclear & Hadron Physics, Adrian-Martinez, S, Ageron, M, Aiello, S, Albert, A, Ameli, F, Anassontzis, Eg, Andre, M, Androulakis, G, Anghinolfi, M, Anton, G, Ardid, M, Avgitas, T, Barbarino, G, Barbarito, E, Baret, B, Barrios-Marti, J, Belias, A, Berbee, E, van den Berg, A, Bertin, V, Beurthey, S, van Beveren, V, Beverini, N, Biagi, S, Biagioni, A, Billault, M, Bondi, M, Bormuth, R, Bouhadef, B, Bourlis, G, Bourret, S, Boutonnet, C, Bouwhuis, M, Bozza, C, Bruijn, R, Brunner, J, Buis, E, Buompane, R, Busto, J, Cacopardo, G, Caillat, L, Calamai, M, Calvo, D, Capone, A, Caramete, L, Cecchini, S, Celli, S, Champion, C, Cherubini, S, Chiarella, V, Chiarelli, L, Chiarusi, T, Circella, M, Classen, L, Cobas, D, Cocimano, R, Coelho, Jab, Coleiro, A, Colonges, S, Coniglione, R, Cordelli, M, Cosquer, A, Coyle, P, Creusot, A, Cuttone, G, D'Amato, C, D'Amico, A, D'Onofrio, A, De Bonis, G, De Sio, C, Di Palma, I, Diaz, Af, Distefano, C, Donzaud, C, Dornic, D, Dorosti-Hasankiadeh, Q, Drakopoulou, E, Drouhin, D, Durocher, M, Eberl, T, Eichie, S, van Eijk, D, El Bojaddaini, I, Elsaesser, D, Enzenhofer, A, Favaro, M, Fermani, P, Ferrara, G, Frascadore, G, Furini, M, Fusco, La, Gal, T, Galata, S, Garufi, F, Gay, P, Gebyehu, M, Giacomini, F, Gialanella, L, Giordano, V, Gizani, N, Gracia, R, Graf, K, Gregoire, T, Grella, G, Grmek, A, Guerzoni, M, Habel, R, Hallmann, S, van Haren, H, Harissopulos, S, Heid, T, Heijboer, A, Heine, E, Henry, S, Hernandez-Rey, Jj, Hevinga, M, Hofestadt, J, Hugon, Cmf, Illuminati, G, James, Cw, Jansweijer, P, Jongen, M, de Jong, M, Kadler, M, Kalekin, O, Kappes, A, Katz, Uf, Keller, P, Kieft, G, Kiessling, D, Koffeman, En, Kooijman, P, Kouchner, A, Kreter, M, Kulikovskiy, V, Lahmann, R, Lamare, P, Larosa, G, Leisos, A, Leone, F, Leonora, E, Clark, Ml, Liolios, A, Alvarez, Cdl, Lo Presti, D, Lohner, H, Lonardo, A, Lotze, M, Loucatos, S, Maccioni, E, Mannheim, K, Manzali, M, Margiotta, A, Margotti, A, Marinelli, A, Maris, O, Markou, C, Martinez-Mora, Ja, Martini, A, Marzaioli, F, Mele, R, Melis, Kw, Michael, T, Migliozzi, P, Migneco, E, Mijakowski, P, Miraglia, A, Mollo, Cm, Mongelli, M, Morganti, M, Moussa, A, Musico, P, Musumeci, M, Navas, S, Nicolau, Ca, Olcina, I, Olivetto, C, Orlando, A, Orzelli, A, Pancaldi, G, Papaikonomou, A, Papaleo, R, Pavalas, Ge, Peek, H, Pellegrini, G, Pellegrino, C, Perrina, C, Pfutzner, M, Piattelli, P, Pikounis, K, Pleinert, Mo, Poma, Ge, Popa, V, Pradier, T, Pratolongo, F, Puhlhofer, G, Pulvirenti, S, Quinn, L, Racca, C, Raffaelli, F, Randazzo, N, Rauch, T, Real, D, Resvanis, L, Reubelt, J, Riccobene, G, Rossi, C, Rovelli, A, Saldana, M, Salvadori, I, Samtleben, Dfe, Garcia, A, Losa, A, Sanguineti, M, Santangelo, A, Santonocito, D, Sapienza, P, Schimmel, F, Schmelling, J, Schnabel, J, Sciacca, V, Sedita, M, Seitz, T, Sgura, I, Simeone, F, Sipala, V, Spisso, B, Spurio, M, Stavropoulos, G, Steijger, J, Stellacci, Sm, Stransky, D, Taiuti, M, Tayalati, Y, Terrasi, F, Tezier, D, Theraube, S, Timmer, P, Tonnis, C, Trasatti, L, Travaglini, R, Trovato, A, Tsirigotis, A, Tzamarias, S, Tzamariudaki, E, Vallage, B, Van Elewyck, V, Vermeulen, J, Versari, F, Vicini, P, Viola, S, Vivolo, D, Volkert, M, Wiggers, L, Wilms, J, de Wolf, E, Zachariadou, K, Zani, S, Zornoza, Jd, Zuniga, J, Centre de Physique des Particules de Marseille (CPPM), Aix Marseille Université (AMU)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), KM3NeT, Centre Tecnològic de Vilanova i la Geltrú, Universitat Politècnica de Catalunya. LAB - Laboratori d'Aplicacions Bioacústiques, Adrián Martínez, S., Ageron, M., Aiello, S., Albert, A., Ameli, F., Anassontzis, E. G., Andre, M., Androulakis, G., Anghinolfi, M., Anton, G., Ardid, M., Avgitas, T., Barbarino, G., Barbarito, E., Baret, B., Barrios Mart, J., Belias, A., Berbee, E., van den Berg, A., Bertin, V., Beurthey, S., van Beveren, V., Beverini, N., Biagi, S., Biagioni, A., Billault, M., Bondì, M., Bormuth, R., Bouhadef, B., Bourlis, G., Bourret, S., Boutonnet, C., Bouwhuis, M., Bozza, C., Bruijn, R., Brunner, J., Buis, E., Buompane, R., Busto, J., Cacopardo, G., Caillat, L., Calamai, M., Calvo, D., Capone, A., Caramete, L., Cecchini, S., Celli, S., Champion, C., Cherubini, S., Chiarella, V., Chiarelli, L., Chiarusi, T., Circella, M., Classen, L., Cobas, D., Cocimano, R., Coelho, J. A. B., Coleiro, A., Colonges, S., Coniglione, R., Cordelli, M., Cosquer, A., Coyle, P., Creusot, A., Cuttone, G., D’Amato, C., D’Amico, A., D'Onofrio, Antonio, De Bonis, G., De Sio, C., Di Palma, I., Díaz, A. F., Distefano, C., Donzaud, C., Dornic, D., Dorosti Hasankiadeh, Q., Drakopoulou, E., Drouhin, D., Durocher, M., Eberl, T., Eichie, S., van Eijk, D., El Bojaddaini, I., Elsaesser, D., Enzenhöfer, A., Favaro, M., Fermani, P., Ferrara, G., Frascadore, G., Furini, M., Fusco, L. A., Gal, T., Galatà, S., Garufi, F., Gay, P., Gebyehu, M., Giacomini, F., Gialanella, Lucio, Giordano, V., Gizani, N., Gracia, R., Graf, K., Grégoire, T., Grella, G., Grmek, A., Guerzoni, M., Habel, R., Hallmann, S., van Haren, H., Harissopulos, S., Heid, T., Heijboer, A., Heine, E., Henry, S., Hernández Rey, J. J., Hevinga, M., Hofestädt, J, Hugon, C. M. F., Illuminati, G., James, C. W., Jansweijerf, P., Jongen, M., de Jong, M., Kadler, M., Kalekin, O., Kappes, A., Katz, U. F., Keller, P., Kieft, G., Kießling, D., Koffeman, E. N., Kooijman, P., Kouchner, A., Kreter, M., Kulikovskiy, V., Lahmann, R., Lamare, P., Larosa, G., Leisos, A., Leone, F., Leonora, E., Lindsey Clark, M., Liolios, A., Llorens Alvarez, C. D., Lo Presti, D., Löhner, H., Lonardo, A., Lotze, M., Loucatos, S., Maccioni, E., Mannheim, K., Manzali, M., Margiotta, A., Margotti, A., Marinelli, A., Maris, O., Markou, C., Martínez Mora, J. A., Martini, A., Marzaioli, Fabio, Mele, R., Melis, K. W., Michael, T., Migliozzi, P., Migneco, E., Mijakowski, P., Miraglia, A., Mollo, C. M., Mongelli, M., Morganti, M., Moussa, A., Musico, P., Musumeci, M., Navas, S., Nicolau, C. A., Olcina, I., Olivetto, C., Orlando, Antonio, Orzelli, A., Pancaldi, G., Papaikonomou, A., Papaleo, R., Păvălas, G. E., Peek, H., Pellegrini, G., Pellegrino, C., Perrina, C., Pfutzner, M., Piattelli, P., Pikounis, K., Pleinert, M. O., Poma, G. E., Popa, V., Pradier, T., Pratolongo, F., Pühlhofer, G., Pulvirenti, S., Quinn, L., Racca, C., Raffaelli, F., Randazzo, N., Rauch, T., Real, D., Resvanis, L., Reubelt, J., Riccobene, G., Rossi, C., Rovelli, A., Saldaña, M., Salvadori, I., Samtleben, D. F. E., Sánchez García, A., Sánchez Losa, A., Sanguineti, M., Santangelo, A., Santonocito, D., Sapienza, P., Schimmel, F., Schmelling, J., Schnabel, J., Sciacca, V., Sedita, M., Seitz, T., Sgura, I., Simeone, F., Sipala, V., Spisso, B., Spurio, M., Stavropoulos, G., Steijger, J., Stellacci, S. M., Stransky, D., Taiuti, M., Tayalati, Y., Terrasi, Filippo, Tézier, D., Theraube, S., Timmer, P., Tönnis, C., Trasatti, L., Travaglini, R., Trovato, A., Tsirigotis, A., Tzamarias, S., Tzamariudaki, E., Vallage, B., Van Elewyck, V., Vermeulen, J., Versari, F., Vicini, P., Viola, S., Vivolo, D., Volkert, M., Wiggers, L., Wilms, J., de Wolf, E., Zachariadou, K., Zani, S., Zornoza, J. D., Zúñiga, J., Barbarino, Giancarlo, D’Onofrio, A., Garufi, Fabio, Gialanella, L., Hofestädt, J., Marzaioli, F., Orlando, A., Terrasi, F., Vivolo, Daniele, Adrián-Martínez, S., Barrios-Mart, J., Dorosti-Hasankiadeh, Q., Hernández-Rey, J. J., Martínez-Mora, J. A., and Pleinert, M.-O.

Subjects
Astrofísica, Photon, Physics - Instrumentation and Detectors, Physics::Instrumentation and Detectors, High Tech Systems & Materials, 01 natural sciences, law.invention, High Energy Physics - Experiment, ENERGY, High Energy Physics - Experiment (hep-ex), High Energy Physics - Phenomenology (hep-ph), law, neutrino Telescopes, Charged current, OPT - Optics, Physics, TS - Technical Sciences, Industrial Innovation, SEA, Detector, Instrumentation and Detectors (physics.ins-det), OPTICAL-PROPERTIES, High Energy Physics - Phenomenology, Astronomy--Observations, Neutrino Detectors, Nano Technology, Neutrino, Nuclear and High Energy Physics, TELESCOPE, Cherenkov detector, Astrophysics::High Energy Astrophysical Phenomena, FOS: Physical sciences, Nuclear physics, 0103 physical sciences, lcsh:Nuclear and particle physics. Atomic energy. Radioactivity, [PHYS.PHYS.PHYS-INS-DET]Physics [physics]/Physics [physics]/Instrumentation and Detectors [physics.ins-det], 14. Life underwater, Neutrins, Neutrinos, 010306 general physics, Muon, 010308 nuclear & particles physics, GENERATOR, Neutrino Detectors and Telescopes (experiments), Neutrino astrophysics, KM3NeT, Física::Astronomia i astrofísica [Àrees temàtiques de la UPC], FISICA APLICADA, lcsh:QC770-798, High Energy Physics::Experiment, Electronics, Electron neutrino
Abstract

Studying atmospheric neutrino oscillations in the few-GeV range with a multimegaton detector promises to determine the neutrino mass hierarchy. This is the main science goal pursued by the future KM3NeT/ORCA water Cherenkov detector in the Mediterranean Sea. In this paper, the processes that limit the obtainable resolution in both energy and direction in charged-current neutrino events in the ORCA detector are investigated. These processes include the composition of the hadronic fragmentation products, the subsequent particle propagation and the photon-sampling fraction of the detector. GEANT simulations of neutrino interactions in seawater produced by GENIE are used to study the effects in the 1 - 20 GeV range. It is found that fluctuations in the hadronic cascade in conjunction with the variation of the inelasticity y are most detrimental to the resolutions. The effect of limited photon sampling in the detector is of significantly less importance. These results will therefore also be applicable to similar detectors/media, such as those in ice., 37 pages, 28 figures, JHEP published version

Published
2017

18. Congenital myopathies: Clinical phenotypes and new diagnostic tools

Author

Cassandrini, D., Trovato, R., Rubegni, A., Lenzi, S., Fiorillo, Claudio, Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M., Berardinelli, A., Bertini, Enrico Silvio, Comi, G., D'Amico, A., Donati, M. A., Dotti, M. T., Fattori, Francesco, Grandis, M., Maggi, L., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, Raffael, Mercuri, Eugenio Maria, Merlini, L., Moggio, M., Mora, M., Morandi, L. O., Musumeci, O., Nigro, V., Pane, Marika, Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, Giuseppe, Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Savarese, Mariarosaria, Siciliano, Giovanni, Simonati, A., Tonin, Paolo, Toscano, A., Fiorillo C. (ORCID:0000-0001-7681-3567), Bertini E. S., Fattori F., Massa R., Mercuri E. (ORCID:0000-0002-9851-5365), Pane M. (ORCID:0000-0002-4851-6124), Ricci G., Savarese M. (ORCID:0000-0003-0809-100X), Siciliano G., Tonin P., Cassandrini, D., Trovato, R., Rubegni, A., Lenzi, S., Fiorillo, Claudio, Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M., Berardinelli, A., Bertini, Enrico Silvio, Comi, G., D'Amico, A., Donati, M. A., Dotti, M. T., Fattori, Francesco, Grandis, M., Maggi, L., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, Raffael, Mercuri, Eugenio Maria, Merlini, L., Moggio, M., Mora, M., Morandi, L. O., Musumeci, O., Nigro, V., Pane, Marika, Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, Giuseppe, Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Savarese, Mariarosaria, Siciliano, Giovanni, Simonati, A., Tonin, Paolo, Toscano, A., Fiorillo C. (ORCID:0000-0001-7681-3567), Bertini E. S., Fattori F., Massa R., Mercuri E. (ORCID:0000-0002-9851-5365), Pane M. (ORCID:0000-0002-4851-6124), Ricci G., Savarese M. (ORCID:0000-0003-0809-100X), Siciliano G., and Tonin P.

Abstract

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.

Published
2017

19. Grammatica spagnola

Author

CARRERAS GOICOECHEA, Maria and Trovato, R.

Subjects
lingua spagnola, grammatica
Published
2016

20. MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Author

Fiorillo, Claudio, Astrea, G., Savarese, Mariarosaria, Cassandrini, D., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, Giorgio, Pane, Marika, Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L., Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, Andrea, Massa, Raffael, Grandis, M., Toscano, A., Pegoraro, E., Mercuri, Eugenio Maria, Bertini, Enrico Silvio, Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M., Bruno, C., Fiorillo C. (ORCID:0000-0001-7681-3567), Savarese M. (ORCID:0000-0003-0809-100X), Tasca G., Pane M. (ORCID:0000-0002-4851-6124), Petrucci A., Massa R., Mercuri E. (ORCID:0000-0002-9851-5365), Bertini E., Fiorillo, Claudio, Astrea, G., Savarese, Mariarosaria, Cassandrini, D., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, Giorgio, Pane, Marika, Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., Vita, G. L., Sframeli, M., Gibertini, S., Morandi, L., Mora, M., Maggi, L., Petrucci, Andrea, Massa, Raffael, Grandis, M., Toscano, A., Pegoraro, E., Mercuri, Eugenio Maria, Bertini, Enrico Silvio, Mongini, T., Santoro, L., Nigro, V., Minetti, C., Santorelli, F. M., Bruno, C., Fiorillo C. (ORCID:0000-0001-7681-3567), Savarese M. (ORCID:0000-0003-0809-100X), Tasca G., Pane M. (ORCID:0000-0002-4851-6124), Petrucci A., Massa R., Mercuri E. (ORCID:0000-0002-9851-5365), and Bertini E.

Abstract

Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions. Results: As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps. Conclusion: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.

Published
2016

21. La médiation lévinasienne dans l'introduction de la phénoménologie en France. Lectures de 'La théorie de l'intuition dans la phénoménologie de Husserl'

Author

Vergani, M, Trovato, R, VERGANI, MARIO, Trovato, R., Vergani, M, Trovato, R, VERGANI, MARIO, and Trovato, R.

Abstract

The article aims at analyzing the importance and the effects produced, in the French reception of the phenomenology, by Levinas’ first interpretation of Husserl’s philosophy, through his book “La théorie de l’intuition dans la phénoménologie de Husserl”. Discussing with several authors belonging to the phenomenological tradition, the essay dwells upon three basic ideas: theoreticism, phenomenological reduction, fundamental ontology.

Published
2007

22. Preclinical Atherosclerosis, Metabolic Syndrome and Risk of Cardiovascular Events

Author

Novo, S, Graceffa, A, Cameli, M, Ciccone, Mm, Maiello, M, Modesti, Pa, Muiesan, Ml, Muratori, I, Novo, G, Palmiero, P, Peritore, A, Saba, Ps, Scicchitano, P, Trovato, R, and Pedrinelli, Roberto

Abstract

The CVD represent nowadays the first cause of mortality and disability in western country. But atherosclerosis disease is a gradually process that develops over decades, giving the time to carry out prevention and intervention strategy. Great attention should be made on the analysis of RF and on their correction, especially when they are clustered in a manner that enhances them. For this reason, it's important to prevent the development of MetS abnormalities (for example with daily physical activity and Mediterranean diet) and to detect it early so as start pharmacological treatment of modifiable risk factors. Moreover, in order to address the therapeutic efforts to the subjects that can receive greater benefit, it is important to have tool to identify subjects affected but non symptomatic yet. For this purpose, non-invasive techniques capable of evaluating arterial wall and endothelial function should enter in routinely evaluation of cardiovascular risk. In particular, according to ESC guidelines (1), carotid ultrasonography, brachial-ankle index measurement and computed tomography for coronary calcium assessment should be taken in mind for further risk stratification of asymptomatic adults at moderate risk. The detection of subclinical lesions indicates the need of a more aggressive management of risk factors, possibly with the help of drug treatment.Read Complete Article at ijSciences: V3201406514

Published
2014
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24. La médiation lévinasienne dans l'introduction de la phénoménologie en France. Lectures de 'La théorie de l'intuition dans la phénoménologie de Husserl'

Author

VERGANI, MARIO, Trovato, R., Vergani, M, and Trovato, R

Subjects
Phenomenology, Levinas, Husserl
Abstract

The article aims at analyzing the importance and the effects produced, in the French reception of the phenomenology, by Levinas’ first interpretation of Husserl’s philosophy, through his book “La théorie de l’intuition dans la phénoménologie de Husserl”. Discussing with several authors belonging to the phenomenological tradition, the essay dwells upon three basic ideas: theoreticism, phenomenological reduction, fundamental ontology.

Published
2007

26. Detection of lymphotropic herpesvirus DNA by polymerase chain reaction in cerebrospinal fluid of AIDS patients with neurological disease

Author

Francesco Broccolo, Iuliano, R., Careddu, A. M., Trovato, R., Lico, S., Blanc, P. L., Mazotta, F., Ceccherini-Nelli, L., Broccolo, F, Iuliano, R, Careddu, A, Trovato, R, Lico, S, Blanc, P, Mazotta, F, and Ceccherini Nelli, L

Subjects
Epstein-Barr Virus Infections, Herpesvirus 4, Human, Herpesvirus 6, Human, Cytomegalovirus, Herpesvirus 7, Human, Polymerase Chain Reaction, HHV-6, HHV-7, EBV, Central Nervous System Diseases, Virology, Detection of lymphotropic herpesvirus DNA, Cerebrospinal fluid, AIDS, Neurological disease, Humans, Encephalitis, Viral, CNS disease, HHV-8, Lymphoma, AIDS-Related, Acquired Immunodeficiency Syndrome, AIDS-Related Opportunistic Infections, Medicine (all), CMV, Peripheral Nervous System Diseases, Infectious Diseases, Cytomegalovirus Infections, DNA, Viral, Herpesvirus 8, Human
Abstract

Cerebrospinal fluid (CSF) samples from 49 acquired immunodefficiency disease syndrome (AIDS) patients with a central nervous system (CNS) disease were examined by polymerase chain reaction (PCR) to evaluate the association between the positivity for cytomegalovirus (CMV) and Epstein-Barr virus (EBV), and clinical diagnosis of a CNS disease. Frequency and clinical relevance of detection of DNA of human herpesviruses 6 (HHV-6), 7 (HHV-7) and 8 (HHV-8) were also determined. DNA of one or more of the following viruses was found in 26 of 49 patients (53%): CMV in 16 (33%), EBV in 13 (27%), human herpesvirus 6 (HHV-6) in 2 (4%), human herpesvirus 7 (HHV-7) in 1 (2%), and human herpesvirus 8 (HHV-8) in 1 (2%). The CMV detection was significantly associated with encephalitis and peripheral neuropathy (7/16 vs. 2/33, p = 0.003), while EBV with primary CNS lymphoma (P-CNSL) (8/13 vs. 0/36, p

Published
2000

27. Search for mutations in the Italian patients with congenital myopathy

Author

Trovato, R., Cassandrini, D., Pane, M., D’Amico, A., Comi, G., Battini, R., Astrea, G., Santorelli, F. M., Minetti, C., Bruno, C., Bertini, E., Mercuri, E., Pegoraro, E., Toscano, Antonio, Messina, Sonia, Nigro, V., Beradinelli, A., and Mongini, T.

Published
2011

31. The QUOVADIS study: features of obese Italian patients seeking treatment at specialist centers

Author

Melchionda, Nazario, Marchesini, Giulio, Apolone, Giovanni, Cuzzolaro, Massimo, Mannucci, Edoardo, Grossi, Enzo, Avagnina, Sebastiano, Ferrero, L., Barantani, E. G., Molinari, Enrico, Petroni, MARIA LETIZIA, Marsala, R. M., Compare, Angelo, Hacker, S., Belfiore, F., Caviezel, F., Ambrosi, B., Tufano, A., Corica, F., Corsonello, A., DE DOMENICO, D., Giancotti, V., Valentini, M., Antonini, S., Dall'Aglio, E., Adami, A., DALLE GRAVE, Riccardo, Scutari, C., DEL RIO, G., Bondi, Mario, Menozzi, R., Fatati, Giuseppe, Palazzi, M., Fusco, MARIA ANTONIA, Carbonelli, M. G., Gennaro, M., Scaglione, L., Rossin, K., Lucchin, L., Trovato, R., Natale, S., Baraldi, L., Forlani, G., Villanova, Nicola, Ciccarone, A. M., Chatzianagnostou, K., Novi, R. F., Trombetta, A., Seardo, M. A., Alberto, G. F., Pontiroli, E. A., Saibene, A., Vedani, P., Rotella, C., Ciani, S., Zucchi, T., Salvioli, G., Ventura, P., Morselli, L., Tomasi, Franco, Barbieri, S., Scalambra, E., Capani, F., Vitacolonna, E., Taraborrelli, M., Noacco, C., Taboga, C., Mreule, S., Ferrari, E., Magri, F., BECK PECCOZ, Paolo, Morpurgo, P. S., DE ROSA, M., Covezzoli, A., Campana, F., Rivolta, G., and Cerruti, D.

Subjects
obesity, therapy, Anthropometry, quality of life, behavior, Settore M-PSI/08 - Psicologia Clinica
Published
2003

32. Cellular localization of human herpesvirus 8 in nonneoplastic lymphadenopathies and chronic interstitial pneumonitis by in situ polymerase chain reaction studies

Author

Trovato, R, Luppi, Mario, Barozzi, Patrizia, Da Prato, L, Maiorana, Antonino, Lico, S, Marasca, Roberto, Torricelli, Pietro, Torelli, Giuseppe, and Ceccherini Nelli, L.

Subjects
Herpesvirus 8, Human, Humans, Herpesviridae Infections, human herpesvirus-8 (HHV-8), Lung Diseases, Interstitial, Tomography, X-Ray Computed, Lymphatic Diseases, Polymerase Chain Reaction
Abstract

To study the cellular localization of human herpesvirus 8 (HHV-8) in rare cases of HHV-8 infection from Italy that are associated neither with human immunodeficiency virus (HIV) infection nor Kaposi's sarcoma (KS).The presence and distribution of HHV-8-infected cells was investigated by direct in situ polymerase chain reaction (PCR) in the lymph node tissues from 2 patients with reactive lymphadenopathies with florid follicular hyperplasia and increased vascularity and in the lung tissue from 1 patient with chronic interstitial pneumonitis.HHV-8 was localized in lymphoid and monocyte-macrophage cells scattered in the interfollicular regions of both lymph nodes but not in endothelial cells. In the lung tissue, HHV-8 was found in the inflammatory cells infiltrating the interalveolar interstitium, in endothelial cells of the pulmonary vasculature, and in rare pneumocytes.HHV-8 can infect nonneoplastic lymph nodes of immunocompetent subjects, and the distribution of infected cells outside of the germinal centers resembles that of Epstein-Barr virus (EBV)-infected cells in the lymph nodes in the course of infectious mononucleosis. Endothelial cells and pneumocytes may be a target of HHV-8 infection out of the KS setting, at least in the presence of a chronic inflammatory process.

Published
1999

36. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Author

Fiorillo, C., Astrea, G., Savarese, M., Cassandrini, D., Brisca, G., Trucco, F., Pedemonte, M., Trovato, R., Ruggiero, L., Vercelli, L., D'Amico, A., Tasca, G., Pane, M., Fanin, M., Bello, L., Broda, P., Musumeci, O., Rodolico, C., Messina, S., and Vita, G. L.

Subjects
MUSCLE diseases, MUSCLE disease treatment, HYPERTROPHIC cardiomyopathy, MYOSIN, NEUROGENIC bowel, THERAPEUTICS, DIAGNOSIS of muscle diseases, MUSCLE protein metabolism, COMPARATIVE studies, GENEALOGY, GENETIC techniques, LEG, MAGNETIC resonance imaging, RESEARCH methodology, MEDICAL cooperation, MUSCLE proteins, GENETIC mutation, RESEARCH, RESEARCH funding, PHENOTYPES, EVALUATION research, SKELETAL muscle, GENOTYPES
Abstract

Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions.Results: As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps.Conclusion: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder. [ABSTRACT FROM AUTHOR]

Published
2016
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37. Human herpesvirus-6 reactivation in a longitudinal study of two HIV-1 infected patients

Author

Iuliano, R, Trovato, R, Lico, S, Luppi, Mario, Forastieri, G, Barsanti, La, Pizzigallo, Am, Mecocci, L, Barozzi, Patrizia, Torelli, Giuseppe, Mazzotta, F, and Ceccherininelli, L.

Subjects
Male, AIDS-Related Opportunistic Infections, Herpesvirus 6, Human, viral reactivation, Herpesviridae Infections, Antibodies, Viral, Polymerase Chain Reaction, CD4 Lymphocyte Count, HHV-6, PCR, indirect immunofluorescence assay, Immunoglobulin M, Immunoglobulin G, HIV-1, DNA, Viral, Humans, Female, Virus Activation, Longitudinal Studies
Abstract

After primary infection, human herpesvirus-6 (HHV-6) persists in latent form and can be reactivated in immunocompromised subjects. A longitudinal study of HHV-6 infection was carried out in two HIV-1 seropositive patients to provide in vivo evidence of HHV-6 reactivation. Concomitant with a significant rise of anti-HHV-6 IgG detected by IFA, a transient increase of HHV-6 viral load was shown in PBLs by PCR. During HHV-6 reactivation it was also identified either cell-free HHV-6 by PCR in plasma or IgM antibody titers. HHV-6 reactivation was followed by a temporary decrease in CD4+ count and by a progressive dramatic loss of CD4+ during the following 18 months. HHV-6 strain characterization by PCR demonstrated that first patient (MM) initially showed the B variant, followed by reactivation and persistence of the A variant, while in the second (SG) only the A variant was detected. The evidence of HHV-6 reactivation suggests its involvement in immunologic damage underlying the disease.

Published
1997

48. Detection of lymphotropic herpesvirus DNA by polymerase chain reaction in cerebrospinal fluid of aids patients with neurological disease

Author

Broccolo, F, Iuliano, R, Careddu, A, Trovato, R, Lico, S, Blanc, P, Mazotta, F, Ceccherini Nelli, L, BROCCOLO, FRANCESCO, CAREDDU, ANNA MARIA LAURA, TROVATO, ROSARIA, Ceccherini Nelli, L., Broccolo, F, Iuliano, R, Careddu, A, Trovato, R, Lico, S, Blanc, P, Mazotta, F, Ceccherini Nelli, L, BROCCOLO, FRANCESCO, CAREDDU, ANNA MARIA LAURA, TROVATO, ROSARIA, and Ceccherini Nelli, L.

Abstract

Cerebrospinal fluid (CSF) samples from 49 acquired immunodefficiency disease syndrome (AIDS) patients with a central nervous system (CNS) disease were examined by polymerase chain reaction (PCR) to evaluate the association between the positivity for cytomegalovirus (CMV) and Epstein-Barr virus (EBV), and clinical diagnosis of a CNS disease. Frequency and clinical relevance of detection of DNA of human herpesviruses 6 (HHV-6), 7 (HHV-7) and 8 (HHV-8) were also determined. DNA of one or more of the following viruses was found in 26 of 49 patients (53%): CMV in 16 (33%), EBV in 13 (27%), human herpesvirus 6 (HHV-6) in 2 (4%), human herpesvirus 7 (HHV-7) in 1 (2%), and human herpesvirus 8 (HHV-8) in 1 (2%). The CMV detection was significantly associated with encephalitis and peripheral neuropathy (7/16 vs. 2/33, p = 0.003), while EBV with primary CNS lymphoma (P-CNSL) (8/13 vs. 0/36, p <0.0001). HHV-6 DNA was found in CSF of two patients with neuroradiological features suggestive of cerebral lesions. HHV-8 or HHV-7 DNA was detected in the CSF of patients with unexplained neurological symptoms. This study confirms that the PCR analysis of CSF is a valid tool for the diagnosis of neurological diseases associated with CMV and EBV. On the other hand, HHV-6, HHV-7 and HHV-8, instead, were rarely detected in CSF of AIDS patients and have certainly no correlation with the CNS disease found

Published
2000

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