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6. Management of dyslipidaemia in patients with coronary heart disease: Results from the ESC-EORP EUROASPIRE V survey in 27 countries

Author

De Backer, Guy Jankowski, Piotr Kotseva, Kornelia and Mirrakhimov, Erkin Reiner, Zeljko Ryden, Lars Tokgozoglu, Lale Wood, David De Bacquer, Dirk Abreu, A. Aguiar, C. and Badariene, J. Bruthans, J. Castro Conde, A. Cifkova, R. and Crowley, J. Davletov, K. De Smedt, D. De Sutter, J. and Deckers, J. W. Dilic, M. Dolzhenko, M. Druais, H. and Dzerve, V. Erglis, A. Fras, Z. Gaita, D. Gotcheva, N. and Grobbee, D. E. Gyberg, V. Ali, H. Hasan Heuschmann, P. and Hoes, A. W. Lalic, N. Lehto, S. Lovic, D. Maggioni, A. P. Mancas, S. Marques-Vidal, P. Mellbin, L. Milicic, D. Oganov, R. Pogosova, N. Stagmo, M. Stoerk, S. and Sundvall, J. Tsioufis, K. Vulic, D. Wood, D. A. and Jennings, C. Adamska, A. Adamska, S. Mellbin, L. and Tuomilehto, J. Schnell, O. Fiorucci, E. Glemot, M. and Larras, F. Missiamenou, V. Maggioni, A. Taylor, C. and Ferreira, T. Lemaitre, K. Raman, L. Sundvall, J. and DeSmedt, D. De Sutter, J. Willems, A. M. De Pauw, M. and Vervaet, P. Bollen, J. Dekimpe, E. Mommen, N. Van Genechten, G. Dendale, P. Bouvier, C. A. Chenu, P. and Huyberechts, D. Persu, A. Dilic, M. Begic, A. Nalbantic, A. Durak Dzubur, A. Hadzibegic, N. Iglica, A. Kapidjic, S. Bico, A. Osmanagic Resic, N. Bajramovic, N. Sabanovic and Zvizdic, F. Vulic, D. Kovacevic-Preradovic, T. and Popovic-Pejicic, S. Djekic, D. Gnjatic, T. Knezevic, T. and Kovacevic-Preradovic, T. Kos, Lj Popovic-Pejicic, S. and Stanetic, B. Topic, G. Gotcheva, N. Georgiev, Borislav and Terziev, A. Vladimirov, G. Angelov, A. Kanazirev, B. and Nikolaeva, S. Tonkova, D. Vetkova, M. Milicic, D. and Bosnic, A. Dubravcic, M. Glavina, M. Mance, M. and Pavasovic, S. Samardzic, J. Batinic, T. Crljenko, K. and Delic-Brkljacic, D. Dula, K. Golubic, K. Klobucar, I. and Kordic, K. Kos, N. Nedic, M. Olujic, D. Sedinic, V. and Blazevic, T. Pasalic, A. Percic, M. Sikic, J. Bruthans, J. Cifkova, R. Hasplova, K. Sulc, P. Wohlfahrt, P. and Mayer, Jr., O. Cvicela, M. Filipovsky, J. Gelzinsky, J. and Hronova, M. Hasan-Ali, H. Bakery, S. Mosad, E. Hamed, H. B. Ibrahim, A. Elsharef, M. A. Kholef, E. F. Shehata, A. and Youssef, M. Elhefny, E. Farid, H. Moustafa, T. M. and Sobieh, M. S. Kabil, H. Abdelmordy, A. Lehto, S. and Kiljander, E. Kiljander, P. Koukkunen, H. Mustonen, J. and Cremer, C. Frantz, S. Haupt, A. Hofmann, U. Ludwig, K. and Melnyk, H. Noutsias, M. Karmann, W. Prondzinsky, R. and Herdeg, C. Hoevelborn, T. Daaboul, A. Geisler, T. and Keller, T. Sauerbrunn, D. Walz-Ayed, M. Ertl, G. Leyh, R. Stoerk, S. Heuschmann, P. Ehlert, T. Klocke, B. and Krapp, J. Ludwig, T. Kaes, J. Starke, C. Ungethuem, K. and Wagner, M. Wiedmann, S. Tsioufis, K. Tolis, P. and Vogiatzi, G. Sanidas, E. Tsakalis, K. Kanakakis, J. and Koutsoukis, A. Vasileiadis, K. Zarifis, J. Karvounis, C. and Crowley, J. Gibson, I. Houlihan, A. Kelly, C. O'Donnell, M. Bennati, M. Cosmi, F. Mariottoni, B. Morganti, M. and Cherubini, A. Di Lenarda, A. Radini, D. Ramani, F. and Francese, M. G. Gulizia, M. M. Pericone, D. Davletov, K. and Aigerim, K. Bekbolat, Z. Amirov, B. Assembekov, B. and Chernokurova, E. Ibragimova, F. Kodasbayev, A. Markova, A. and Asanbaev, A. Toktomamatov, U. Tursunbaev, M. Zakirov, U. and Abilova, S. Arapova, R. Bektasheva, E. Esenbekova, J. and Neronova, K. Asanbaev, A. Baigaziev, K. Toktomamatov, U. and Zakirov, U. Baitova, G. Zheenbekov, T. Erglis, A. and Andrejeva, T. Bajare, I. Kucika, G. Labuce, A. Putane, L. Stabulniece, M. Dzerve, V. Klavins, E. Sime, I. and Badariene, J. Gedvilaite, L. Peciuraite, D. Sileikiene, V. and Skiauteryte, E. Solovjova, S. Sidabraite, R. Briedis, K. and Ceponiene, I. Jurenas, M. Kersulis, J. Martinkute, G. and Vaitiekiene, A. Vasiljevaite, K. Veisaite, R. Plisiene, J. Siurkaite, V. Vaiciulis, Z. Czarnecka, D. Koziel, P. and Podolec, P. Nessler, J. Gomula, P. Mirek-Bryniarska, E. and Bogacki, P. Wisniewski, A. Pajak, A. Wolfshaut-Wolak, R. and Bucko, J. Kaminski, K. Lapinska, M. Paniczko, M. and Raczkowski, A. Sawicka, E. Stachurska, Z. Szpakowicz, M. and Musial, W. Dobrzycki, S. Bychowski, J. Kosior, D. A. and Krzykwa, A. Setny, M. Kosior, D. A. Rak, A. Gasior, Z. and Haberka, M. Gasior, Z. Haberka, M. Szostak-Janiak, K. and Finik, M. Liszka, J. Botelho, A. Cachulo, M. Sousa, J. Pais, A. Aguiar, C. Durazzo, A. Matos, D. and Gouveia, R. Rodrigues, G. Strong, C. Guerreiro, R. and Aguiar, J. Abreu, A. Cruz, M. Daniel, P. Morais, L. and Moreira, R. Rosa, S. Rodrigues, I. Selas, M. Gaita, D. and Mancas, S. Apostu, A. Cosor, O. Gaita, L. Giurgiu, L. Hudrea, C. Maximov, D. Moldovan, B. Mosteoru, S. and Pleava, R. Ionescu, M. Parepa, I. Pogosova, N. and Arutyunov, A. Ausheva, A. Isakova, S. Karpova, A. and Salbieva, A. Sokolova, O. Vasilevsky, A. Pozdnyakov, Y. and Antropova, O. Borisova, L. Osipova, I. Lovic, D. and Aleksic, M. Crnokrak, B. Djokic, J. Hinic, S. Vukasin, T. Zdravkovic, M. Lalic, N. M. Jotic, A. Lalic, K. and Lukic, L. Milicic, T. Macesic, M. Gajovic, J. Stanarcic and Stoiljkovic, M. Djordjevic, D. Kostic, S. Tasic, I. and Vukovic, A. Fras, Z. Jug, B. Juhant, A. Krt, A. and Kugonjic, U. Chipayo Gonzales, D. Gomez Barrado, J. J. and Kounka, Z. Marcos Gomez, G. Mogollon Jimenez, M. V. Ortiz Cortes, C. Perez Espejo, P. Porras Ramos, Y. Colman, R. and Delgado, J. Otero, E. Perez, A. Fernandez-Olmo, M. R. and Torres-LLergo, J. Vasco, C. Barrenada, E. Botas, J. and Campuzano, R. Gonzalez, Y. Rodrigo, M. de Pablo, C. and Velasco, E. Hernandez, S. Lozano, C. Gonzalez, P. and Castro, A. Dalmau, R. Hernandez, D. Irazusta, F. J. and Velez, A. Vindel, C. Gomez-Doblas, J. J. Garcia Ruiz, V. and Gomez, L. Gomez Garcia, M. Jimenez-Navarro, M. Molina Ramos, A. Marzal, D. Martinez, G. Lavado, R. Vidal, A. and Bostrom-Nilsson, V. Kjellstrom, B. Shahim, B. Smetana, S. and Hansen, O. Stensgaard-Nake, E. Deckers, J. W. Klijn, A. J. Mangus, T. J. P. Peters, R. J. G. Reimer, W. Scholte Op and Snaterse, M. Aydogdu, S. Erol, C. Oturk, S. Kaya, C. Tulunay Ahmetoglu, Y. Ergene, O. Akdeniz, B. Cirgamis, D. Kultursay, S. Akkoyun H. Kayikcioglu, M. Catakoglu, A. B. and Cengel, A. Kocak, A. A. Agirbasli, M. A. Aciksari, G. and Cekin, M. E. Kaya, E. B. Kocyigit, D. Ongen, Z. and Ozmen, E. Sansoy, V. Kaya, A. Oktay, V. Temizhan, A. and Unal, S. Yakut, I. Kalkan, A. K. Bozkurt, E. Kasapkara, H. A. Dolzhenko, M. Faradzh, C. Hrubyak, L. Konoplianyk, L. Kozhuharyova, N. Lobach, L. Nesukai, V. Nudchenko, O. and Simagina, T. Yakovenko, L. Azarenko, V. Potabashny, V. and Bazylevych, A. Bazylevych, M. Kaminska, K. Panchenko, L. and Shershnyova, O. Ovrakh, T. Serik, S. Kolesnik, T. and Kosova, H. Adamska, A. Adamska, S. Jennings, C. Atkin, A. Hoye P. Fellowes, D. Lindsay, S. Atkinson, C. and Kranilla, C. Vinod, M. Beerachee, Y. Bennett, C. Broome, M. Bwalya, A. Caygill, Lindsay Dinning, L. Gillespie, A. and Goodfellow, R. Guy, J. Idress, T. Mills, C. Morgan, C. Oustance, N. Singh, N. Yare, M. Jagoda, J. M. and Bowyer, H. Christenssen, V. Groves, A. Jan, A. Riaz, A. and Gill, M. Sewell, T. A. Gorog, D. Baker, M. De Sousa, P. Mazenenga, T. Porter, J. Haines, F. Peachey, T. and Taaffe, J. Wells, K. Ripley, D. P. Forward, H. McKie, H. and Pick, S. L. Thomas, H. E. Batin, P. D. Exley, D. and Rank, T. Wright, J. Kardos, A. Sutherland, S. -B. Wren, L. Leeson, P. Barker, D. Moreby, B. Sawyer, J. and Stirrup, J. Brunton, M. Brodison, A. Craig, J. Peters, S. Kaprielian, R. Bucaj, A. Mahay, K. Oblak, M. and Gale, C. Pye, M. McGill, Y. Redfearn, H. Fearnley, M. and EUROASPIRE V Collaborators Writing Comm Sci Steering Executive Comm Coordinating Ctr Diabet Ctr Data Management Ctr Stat Anal Ctr Cent Lab Study Ctr Org Investigators Other

Abstract

Background and aims: One of the objectives of the ESC-EORP EUROASPIRE V survey is to determine how well European guidelines on the management of dyslipidaemias are implemented in coronary patients. Methods: Standardized methods were used by trained technicians to collect information on 7824 patients from 130 centers in 27 countries, from the medical records and at a visit at least 6 months after hospitalization for a coronary event. All lipid measurements were performed in one central laboratory. Patients were divided into three groups: on high-intensity LDL-C-lowering-drug therapy (LLT), on low or moderate-intensity LLT and on no LLT. Results: At the time of the visit, almost half of the patients were on a high-intensity LLT. Between hospital discharge and the visit, LLT had been reduced in intensity or interrupted in 20.8% of the patients and had been started or increased in intensity in 11.7%. In those who had interrupted LLT or had reduced the intensity, intolerance to LLT and the advice of their physician were reported as the reason why in 15.8 and 36.8% of the cases, respectively. LDL-C control was better in those on a high-intensity LLT compared to those on low or moderate intensity LLT. LDL-C control was better in men than women and in patients with self-reported diabetes. Conclusions: The results of the EUROASPIRE V survey show that most coronary patients have a less than optimal management of LDL-C. More professional strategies are needed, aiming at lifestyle changes and LLT adapted to the need of the individual patient.

Published
2019

8. SCREENING OF TOMATO LANDRACES FOR TOLERANCE TO HEAT STRESS CONDITIONS

Author

CALAFIORE R., SCHETTINI C., FONTANELLA V., FRANCESE M., FRUSCIANTE, LUIGI, RIGANO, MARIA MANUELA, BARONE, AMALIA, CALAFIORE R., SCHETTINI C., FONTANELLA V., RIGANO M.M., FRANCESE M., FRUSCIANTE L., BARONE A, Calafiore, R., Schettini, C., Fontanella, V., Rigano, MARIA MANUELA, Francese, M., Frusciante, Luigi, and Barone, Amalia

Published
2016

11. Handling epistemic uncertainty in the Fault Tree Analysis using interval valued expert information

Author

Francese, M, GALANTE, Giacomo Maria, LA FATA, Concetta Manuela, PASSANNANTI, Gianfranco, Francese, M, Galante, GM, La Fata, CM, and Passannanti G

Subjects
Risk Analysi, Epistemic Uncertainty, Fuzzy Boundary Interval
Abstract

Risk Analysis ( RA) is a meaningful process in every industrial context, particularly referring to major hazard plants. In such sites, input reliability data are generally poor so leading to a partial or incomplete knowledge of the failure process. As a consequence, RA is always affected by the so called epistemic uncertainty which presence makes inappropriate the classical probabilistic approach. Therefore, the present work deals with such a kind of uncertainty in the Fault Tree Analysis (FTA) and proposes a new aggregation rule to combine the interval-valued information supplied by a team of experts about each Basic Event ( BE). The aggregation leads to an interval which bounds are modelled by fuzzy numbers. Successively, such an uncertainty is properly propagated up to the Top Event ( TE) in order to determine the related probability of occurrence. The approach is finally applied and discussed with relation to a Safety Instrumented System (SIS)

Published
2014

12. Iron overload causes osteoporosis in Thalassemia Major patients through interaction with TRPV1 channels

Author

ROSSI, Francesca, PERROTTA, Silverio, BELLINI, Giulia, LUONGO, Livio, Tortora C, Siniscalco D, Francese M, TORELLA, Marco, NOBILI, Bruno, Di Marzo V, MAIONE, Sabatino, Rossi, Francesca, Perrotta, Silverio, Bellini, Giulia, Luongo, Livio, Tortora, C, Siniscalco, D, Francese, M, Torella, Marco, Nobili, Bruno, Di Marzo, V, and Maione, Sabatino

Abstract

The pathogenesis of bone resorption in b-thalassemia major is multifactorial and our understanding of the underlying molecular and cellular mechanisms remains incomplete. Considering the emerging importance of the endocannabinoid/ endovanilloid system in bone metabolism, it may be instructive to examine a potential role for this system in the development of osteoporosis in patients with b-thalassemia major and its relationship with iron overload and iron chelation therapy. This study demonstrates that, in thalassemic-derived osteoclasts, tartrateresistant acid phosphatase expression inversely correlates with femoral and lumbar bone mineral density, and directly correlates with ferritin levels and liver iron concentration. The vanilloid agonist resiniferatoxin dramatically reduces cathepsin K levels and osteoclast numbers in vitro, without affecting tartrate-resistant acid phosphatase expression. The iron chelators deferoxamine, deferiprone and deferasirox decrease both tartrate-resistant acid phosphatase and cathepsin K expression, as well as osteoclast activity. Taken together, these data show that transient receptor potential vanilloid type 1 activation/desensitization influences tartrate-resistant acid phosphatase expression and activity, and this effect is dependent on iron, suggesting a pivotal role for iron overload in the dysregulation of bone metabolism in patients with thalassemia major. Our applied pharmacology provides evidence for the potential of iron chelators to abrogate these effects by reducing osteoclast activity. Whether iron chelation therapy is capable of restoring bone health in humans requires further study, but the potential to provide dual benefits for patients with b-thalassemia major –preventing iron-overload and alleviating associated osteoporotic changes – is exciting. © 2014 Ferrata Storti Foundation.

Published
2014

13. Influence of methylenetetrahydrofolate reductase gene polymorphisms on the outcome of pediatric patients with non-Hodgkin lymphoma treated with high-dose methotrexate

Author

D'ANGELO, Velia, Ramaglia M, Iannotta A, Francese M, Pota E, Affinita MC, Pecoraro G, Indolfi C, Di Martino M, Di Pinto D, Buffardi S, Poggi V, Indolfi P, CASALE, Fiorina, D'Angelo, Velia, Ramaglia, M, Iannotta, A, Francese, M, Pota, E, Affinita, Mc, Pecoraro, G, Indolfi, C, Di Martino, M, Di Pinto, D, Buffardi, S, Poggi, V, Indolfi, P, and Casale, Fiorina

Abstract

"High-dose methotrexate (MTX) is a key component of most treatment protocols for childhood and adolescent non-Hodgkin lymphoma (NHL). Recent studies have suggested that the toxicity of antifolate drugs, such as MTX, is affected by inherited single nucleotide polymorphisms (SNPs) in folate metabolizing genes. The aim of our study was to investigate the potential influence of the C677T and A1298C genetic variants of the methylenetetrahydrofolate reductase (MTHFR) gene on the clinical toxicity and efficacy of MTX in pediatric patients with NHL (n = 95) treated with therapeutic protocols Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) LNH-97 and EURO LB-02. We demonstrated that patients with the 677T genotype had an approximately six-fold greater risk of developing hematological toxicity compared with wild-type carriers, especially in the 1 g\/m2 treatment group (p = 0.01). Moreover, we identified a correlation between the risk of relapse and the T genotype: T carriers had reduced disease-free survival compared with wild-type patients (67% vs. 100%). Our data suggest a pharmacogenetic influence on the adverse effects of high-dose MTX in the 1 g\/m2 treatment group.. . "

Published
2013

14. Methotrexate toxicity and efficacy during the consolidation phase in paediatric acute lymphoblastic leukaemia and MTHFR polymorphisms as pharmacogenetic determinants

Author

D'ANGELO, Velia, Ramaglia M, Iannotta A, Crisci S, Francese M, Affinita M, Pecoraro G, Napolitano A, Fusco C, Oreste M, Indolfi C, INDOLFI, Paolo, CASALE, Fiorina, D'Angelo, Velia, Ramaglia, M, Iannotta, A, Crisci, S, Indolfi, Paolo, Francese, M, Affinita, M, Pecoraro, G, Napolitano, A, Fusco, C, Oreste, M, Indolfi, C, and Casale, Fiorina

Published
2011

15. Saggio di tossicità a 14 giorni con Artemia francescana: primo interconfronto

Author

Manfra L., Savorelli F., Migliore L., Biandolino F., Butera D., Cesca C., Cicero A. M., Comin S., Conti D., Di Capua E., Ferioli A., Francese M., Frate R., Gallo M. L., Gelli F., Grillo C., Inglese M., Leoni T., Magaletti E., Martelli F., Martone C., Prato E., Traldi D., Marino G., Mauro A. M., Rossi E., Vacri M., Valenti A., Verde T. R., GUIDA, MARCO, Manfra, L., Savorelli, F., Migliore, L., Biandolino, F., Butera, D., Cesca, C., Cicero, A. M., Comin, S., Conti, D., Di Capua, E., Ferioli, A., Francese, M., Frate, R., Gallo, M. L., Gelli, F., Grillo, C., Guida, Marco, Inglese, M., Leoni, T., Magaletti, E., Martelli, F., Martone, C., Prato, E., Traldi, D., Marino, G., Mauro, A. M., Rossi, E., Vacri, M., Valenti, A., and Verde, T. R.

Subjects
Artemia francescana, long term bioassay, intercalibration exercise
Published
2009

17. Clinical and molecular evaluation of non-dominant hereditary spherocytosis

Author

Miraglia del Giudice E, Nobili B, Francese M, D'Urso L, Eber S, Perrotta S., IOLASCON, ACHILLE, MIRAGLIA DEL GIUDICE, Emanuele, Nobili, Bruno, Francese, M, D'Urso, L, Iolascon, A, Eber, S, Perrotta, Silverio, Miraglia del Giudice, E, Nobili, B, Iolascon, Achille, and Perrotta, S.

Subjects
Ankyrins, Male, Adolescent, Genotype, Spectrin, Genes, Recessive, Spherocytosis, Hereditary, spherocytosi, de novo mutation, Pedigree, Phenotype, Child, Preschool, Mutation, Humans, Female, Child, Promoter Regions, Genetic
Abstract

About 75% of hereditary spherocytosis (HS) patients have the autosomal dominant form of the disease, whereas both parents of the remaining HS patients are clinically and haematologically normal. These patients could have either the autosomal recessive form of the disease or a de novo mutation. We studied 80 randomly chosen, Italian HS children with normal parents. They had different clinical phenotypes (16 mild, 40 moderate, 16 moderately severe and eight severe). These patients were screened for the occurrence of ankyrin or beta-spectrin de novo mutations. To search for ankyrin de novo mutations affecting mRNA accumulation, we studied a (AC)(n) microsatellite located in the non-coding sequence of the last exon of the ankyrin gene, and four different exonic polymorphisms in the beta-spectrin gene were utilized for the detection of de novo mutations influencing beta-spectrin mRNA stability. They were also screened for the presence of alpha-spectrin(LEPRA) as well as for the mutation -108T-->C in the ankyrin promoter, two variants previously found in some cases of genuinely recessive HS. Twenty-five patients showed ankyrin de novo mutations and 10 HS subjects had beta-spectrin de novo mutations. Furthermore, we found five patients to be heterozygous for alpha-spectrin(LEPRA) and one heterozygous for the mutation in the ankyrin promoter. Therefore, a molecular diagnosis was achieved in about 50% of the cases. Our data demonstrate that, among HS patients with normal parents, de novo dominant mutants are six times more common than recessive mutations. These results should be considered in view of the genetic counselling of a normal couple with a HS child.

Published
2001

19. Intercalibration of ecotoxicity testing protocols with Artemia franciscana

Author

Manfra, L., primary, Savorelli, F., additional, Di Lorenzo, B., additional, Libralato, G., additional, Comin, S., additional, Conti, D., additional, Floris, B., additional, Francese, M., additional, Gallo, M.L., additional, Gartner, I., additional, Guida, M., additional, Leoni, T., additional, Marino, G., additional, Martelli, F., additional, Palazzi, D., additional, Prato, E., additional, Righini, P., additional, Rossi, E., additional, Volpi Ghirardini, A., additional, and Migliore, L., additional

Published
2015
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20. Physical activity in celiac women before gluten free diet

Author

Cristina Bucci, Tortora, R., Zingone, F., Francese, M. D., Cappello, C., Santonicola, A., Caria, M. C., carolina ciacci, C., Bucci, R., Tortora, F., Zingone, M. D., Francese, C., Cappello, A., Santonicola, M. C., Caria, and Ciacci, Carolina

Published
2009

22. Reproducibility of electrocardiographic findings in patients with suspected reflex neurally-mediated syncope

Author

Brignole, M, Sutton, R, Menozzi, C, Moya, A, Garcia-Civera, R, G Benditt, D, Vardas, P, Wieling, W, Andresen, D, Migliorini, R, Hollinworth, D, Grovale, N, Zanna, F, P Lopez, M, Mohammad, S, Guthmann, A, Manders, M, D Van Aggel, Erckens, D, Andersen, V, Sousani, E, Eppacher, C, J St Ores, T De Santo, Bottoni, N, Ammirati, F, Santini, M, Donateo, P, Reviele, A, Giada, F, Orazi, S, Alboni, P, Dinelli, M, Perego, G, Brambilla, R, A Del Rosso, Vincenti, A, S De Ceglia, Sassone, B, T Baratto, M, Ungar, A, Currò, S, Gulizia, M, Francese, M, Pandolfo, L, Burattini, M, Cornacchia, D, Casali, E, Giani, P, Santangelo, L, Panico, S, G De Marchi, Marchetti, A, Buja, G, Folino, F, Spampinato, A, Bruni, G, Lunati, M, Buttera, G, García-Civera, R, Morell, S, Ruiz, R, Sanjuan, R, F Garcia-Sacristan, J, Beiras, X, Campos, G, Alonso, C, Garcia-Alberola, A, Lacuna, J, P Villacastín, J, Castellanos, P, Roda, J, Palanca, V, Martí, J, Delclós, J, Alvarez, M, Tercedor, L, Castellanos, E, Mauri, T, F Lozano, I, Tomás, J, Bènèzet, J, Fidalgo, M, G Martinez, J, Herreros, B, Muñoz, F, A J, J Aerts, L V, A Boersma, M Schroeder-Tanka, J, R Van Mechelen, H Ruiter, J, Ehlers, C, Meinerts, T, Schuchert, A, Vieth, T, Reithmann, C, P Von Lowis, Cripps, T, Sulke, N, A Kenny, R, D Skehan, J, Paul, V, Wrigley, M, E Louridas, G, Vasilikos, V, N Jakobsen, T, H Simonsen, E, B Johansen, J, W Grander Affiliation, ACS - Amsterdam Cardiovascular Sciences, and General Internal Medicine

Subjects
Male, medicine.medical_specialty, Socio-culturale, Neurological disorder, Ventricular tachycardia, Electrocardiography, Internal medicine, medicine, Syncope, Vasovagal, Humans, Sinus rhythm, Prospective Studies, cardiovascular diseases, Asystole, Prospective cohort study, medicine.diagnostic_test, biology, business.industry, Syncope (genus), Reproducibility of Results, Middle Aged, medicine.disease, biology.organism_classification, Electrocardiographic Finding, Anesthesia, Cardiology, cardiovascular system, Female, Cardiology and Cardiovascular Medicine, business
Abstract

The reproducibility of electrocardiographic (ECG) recordings in syncopal recurrences and the diagnostic role of nonsyncopal arrhythmias are not well known. The objective of this study was to analyse the reproducibility of the ECG findings recorded with implantable loop recorders in 41 patients with suspected neurally-mediated syncope who were included in the International Study on Syncope of Uncertain Origin-2 study and that had > or =2 events recorded by implantable loop recorders. In these patients, the electrocardiogram obtained with the first documented syncope (index syncope) was compared with other recorded events. Twenty-two patients had > or =2 syncopes, and their electrocardiograms were reproducible in 21 (95%): 15 with sinus rhythm, 5 with asystole, and 1 with ventricular tachycardia; 1 had asystole at first syncope and sinus rhythm at recurrent syncope. In 32 patients with nonsyncopal episodes, an arrhythmia was documented in 9, and all of them had the same arrhythmia during the index syncope (100% reproducibility); conversely, when sinus rhythm was documented (23 patients) during nonsyncopal episodes, an arrhythmia was still documented in 6 during the index syncope (70% reproducibility; p = 0.0004). In conclusion, the ECG findings during the first syncope are highly reproducible in subsequent syncopes. The presence of an arrhythmia during nonsyncopal episodes is also highly predictive of the mechanism of syncope, but the presence of sinus rhythm does not rule out the possibility of arrhythmia during syncope. Therefore the finding of an arrhythmia during a nonsyncopal episode allows the etiologic diagnosis of syncope, and eventually to anticipate treatment, without waiting for syncope

Published
2008

24. Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patients with the inactivation of one ankyrin (ANK1) allele

Author

Miraglia del Giudice E, Francese M, Polito R, Nobili B, Iolascon A, Silverio Perrotta, MIRAGLIA DEL GIUDICE, Emanuele, Francese, M, Polito, R, Nobili, Bruno, Iolascon, A, Perrotta, Silverio, Miraglia del Giudice, E, Nobili, B, Iolascon, Achille, and Perrotta, S.

Subjects
Ankyrins, Spherocytes, Reticulocytes, Erythrocyte Membrane, Splenectomy, Electrophoresis, Polyacrylamide Gel, Spherocytosis, Hereditary, Blood Protein Electrophoresis, False Negative Reactions, Algorithms, Alleles, Gene Deletion
Abstract

The study of erythrocyte membrane protein concentration by polyacrylamide gel electrophoresis (PAGE) is the first step in approaching the primary molecular defect in hereditary spherocytosis (HS). Normal or greater than normal protein 2.1 levels were found in ten unrelated HS patients showing the inactivation of one ankyrin allele. Erythrocyte membranes from the same patients, once splenectomized, showed a homogeneous degree of protein 2.1 reduction. Thus protein 2.1 levels could misleadingly appear normal due to the high number of circulating reticulocytes. To calculate the true ankyrin level using PAGE and consequently to avoid mistakes in studying a mutated gene, a simple equation, based on the number of reticulocytes, was developed.

Published
1997

29. La prevenzione dell’anemia mediterranea in Campania: stato attuale e prospettive

Author

Carestia C, De Angioletti M, Lacerra G, Fioretti G, Pagano L, De Rosa C, Di Girolamo R, Sciorio A, De Biase R, Mastrullo L, Colella R, Vaccaro E, Friggino M, Rinaldi C, Di Lonardo A, NOBILI, Bruno, Francese M, Danise P, Amendola G, D’Onofrio R., GUASTAFIERRO, Salvatore, Carestia, C, De Angioletti, M, Lacerra, G, Fioretti, G, Pagano, L, De Rosa, C, Di Girolamo, R, Sciorio, A, De Biase, R, Mastrullo, L, Colella, R, Vaccaro, E, Friggino, M, Rinaldi, C, Di Lonardo, A, Nobili, Bruno, Francese, M, Danise, P, Amendola, G, Guastafierro, Salvatore, and D’Onofrio, R.

Published
1994

40. Discrepancy between clinical practice and standardized indications for an implantable loop recorder in patients with unexplained syncope

Author

Vitale, E., primary, Ungar, A., additional, Maggi, R., additional, Francese, M., additional, Lunati, M., additional, Colaceci, R., additional, Del Rosso, A., additional, Castro, A., additional, Santini, M., additional, Giuli, S., additional, Belgini, L., additional, Casagranda, I., additional, and Brignole, M., additional

Published
2010
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41. Impaired Adult Neurogenesis Associated with Short-Term Memory Defects in NF- B p50-Deficient Mice

Author

Denis-Donini, S., primary, Dellarole, A., additional, Crociara, P., additional, Francese, M. T., additional, Bortolotto, V., additional, Quadrato, G., additional, Canonico, P. L., additional, Orsetti, M., additional, Ghi, P., additional, Memo, M., additional, Bonini, S. A., additional, Ferrari-Toninelli, G., additional, and Grilli, M., additional

Published
2008
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45. Recurrent Unexplained Palpitations (RUP) Study Comparison of Implantable Loop Recorder Versus Conventional Diagnostic Strategy

Author

GIADA F., GULIZIA M., FRANCESE M., CROCI F., SANTOMAURO M., OCCHETTA E., MENOZZI C., RAVIELE A., SANTANGELO, Lucio, Giada, F., Gulizia, M., Francese, M., Croci, F., Santomauro, M., Occhetta, E., Menozzi, C., Raviele, A., and Santangelo, Lucio

Subjects
unexplained palpitations, electrophysiological study, ambulatory ECG monitor-ing
Abstract

Objectives The aim of the study was to compare the diagnostic yield and the costs of implantable loop recorder (ILR) with those of the conventional strategy in patients with unexplained palpitations. Background In patients with unexplained palpitations, especially in those with infrequent symptoms, the conventional strat-egy, including short-term ambulatory electrocardiogram (ECG) monitoring and electrophysiological study, some-times fails to establish a diagnosis. Methods We studied 50 patients with infrequent (*1 episode/month), sustained (*1 min) palpitations. Before enroll-ment, patients had a negative initial evaluation, including history, physical examination, and ECG. Patients were randomized either to conventional strategy (24-h Holter recording, a 4-week period of ambulatory ECG monitor-ing with an external recorder, and electrophysiological study) (n * 24) or to ILR implantation with 1-year moni-toring (n * 26). Hospital costs of the 2 strategies were calculated. Results A diagnosis was obtained in 5 patients in the conventional strategy group, and in 19 subjects in the ILR group (21% vs. 73%, p * 0.001). Despite the higher initial cost, the cost per diagnosis in the ILR group was lower than in the conventional strategy group (€3,056 * €363 vs. €6,768 * €6,672, p * 0.012). Conclusions In subjects without severe heart disease and with infrequent palpitations, ILR is a safe and more cost-effective diagnostic approach than conventional strategy.

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46. High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis

Author

Miraglia del Giudice, E., Francese, M., Nobili, B., Morle, L., Cutillo, S., Delaunay, J., and Perrotta, S.

Abstract

Objective: To evaluate the frequency of de novo monoallelic expression of the ANK1 gene in hereditary spherocytosis individuals appearing as recessive. Study design: We studied 40 unrelated children with spherocytosis and their normal parents. The genomic distribution of the ankyrin (AC)"n dinucleotide repeats was evaluated in the patients showing combined ankyrin and spectrin deficiency. To search for the absence of mRNA derived from one of the two ANK1 genes, cDNA from the heterozygous patients was amplified using polymerase chain reaction. This was analyzed for the (AC)"n dinucleotide repeats. Results: Thirty-three hereditary spherocytosis subjects had variable degrees of combined ankyrin and spectrin reduction; 19 were found to be heterozygous for the AC repeat lengths and were further studied. In 12, we found a cDNA polymerase chain reaction product from one ankyrin gene alone. These findings strongly suggested the nonexpression of one of the two ANK1 genes because of the de novo mutational events. Conclusion: The de novo loss of an ankyrin allele expression is a frequent cause of hereditary spherocytosis in children with normal parents. Therefore the category of genuinely recessive hereditary spherocytosis cases is further reduced compared with spherocytosis cases because of de novo mutations. The determination of the (AC)"n microsatellite polymorphisms appears as a helpful and reliable tool for the discrimination between these two categories. (J Pediatr 1998;132:117-20)

Published
1998
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48. [Inherited disorders of bilirubin metabolism]

Author

Rossi F, Francese M, Rm, Iodice, Falcone E, Vetrella S, Punzo F, De Vita S, Silverio Perrotta, Rossi, Francesca, Francese, M, Iodice, Rm, Falcone, E, Vetrella, S, Punzo, F, De Vita, S, and Perrotta, Silverio

Subjects
Genotype, Hyperbilirubinemia, Hereditary, Humans, Point Mutation, Bilirubin, Gilbert Disease, Glucuronosyltransferase, Crigler-Najjar Syndrome
Abstract

Jaundice in an infant or older child may reflect accumulation of either unconjugated or conjugated bilirubin and could be related to inherited bilirubin disorders. Three grades of inherited unconjugated hyperbilirubinemia are recognised in humans. This spectrum of disorders is distinguished primarily on the basis of the plasma bilirubin level, the response to phenobarbital administration, and the presence or absence of bilirubin glucoronides in bile. The enzyme responsible for the conjugation of bilirubin is the bilirubin uridine-diphosphate-glucuronosyltransferase (UGT). Mutations in the gene encoding bilirubin-UGT (UGT1A1), lead to complete or partial inactivation of the enzyme causing the rare autosomal recessively inherited conditions, Crigler-Najjar syndrome type 1 (CN-1) and type 2 (CN-2). Gilbert syndrome (GS) is due to an insertional mutation at homozygous state of the TATAA element (seven TA repeats) of UGT1A1 producing a reduced level of expression of the gene. The association of GS with haemolytic anemias, e.g., Hereditary Spherocytosis (HS) or Congenital Dyserythropoietic Anemia type 2 (CDA 2), increase the hyperbilirubinemia level and the risk of cholelithiasis. Forms of chronic conjugated hyperbilirubinemia are Dubin-Johnson syndrome, Rotor syndrome, Alagille syndrome or arteriohepatic dysplasia, Wilson disease or hepatolenticular degeneration. Liver or liver cell transplantation is the therapy in some cases.

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