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167 results on '"RUBBA, PAOLO OSVALDO FEDERICO"'

1. Endothelial function improvement in patients with familial hypercholesterolemia receiving PCSK-9 inhibitors on top of maximally tolerated lipid lowering therapy

Author

Di Minno, Alessandro, primary, Gentile, Marco, additional, Iannuzzo, Gabriella, additional, Calcaterra, Ilenia, additional, Tripaldella, Maria, additional, Porro, Benedetta, additional, Cavalca, Viviana, additional, Di Taranto, Maria Donata, additional, Tremoli, Elena, additional, Fortunato, Giuliana, additional, Rubba, Paolo Osvaldo Federico, additional, and Di Minno, Matteo Nicola Dario, additional

Published
2020
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2. Efficacy and safety of alirocumab in reducing lipids and cardiovascular events

Author

Robinson, Jg, Farnier, M, Krempf, M, Bergeron, J, Luc, G, Averna, M, Stroes, Es, Langslet, G, Raal, Fj, El Shahawy, M, Koren, Mj, Lepor, Ne, Lorenzato, C, Pordy, R, Chaudhari, U, Kastelein, Jj, Caccavo, A, Codutti, O, Gelersztein, E, Vico, M, Zaidman, C, Majul, C, Balthazar, Y, Capiau, L, Vrolix, M, Vermeersch, P, Gotchev, D, Todorov, G, Tumbev, H, Tzekova, M, Gronkova, N, Dimov, B, Nikolaeva, A, Devedzhiev, T, Mincheva, V, D'Ignazio, G, Dzongowski, P, Elliott, T, Hart, R, Hoag, G, Martinho, V, O'Mahony, M, Tellier, G, Pandey, S, Heaton, K, Constance, C, Phaneuf, Dc, Shu, D, Narvaez, Nc, Cañon, Co, Cardenas, Sp, Loayza, Ms, de Salazar, Dm, Lopez, Rb, Gomez, Ji, Mendoza, Ja, Cure, Cc, Ceska, R, Zidkova, E, Jansky, P, Egstrup, K, Klausen, Ib, Lomholdt, J, Gislason, G, Torp Pedersen, C, Poulsen, S, Kuusela, M, Kekki, S, Nieminen, S, Tuomilehto, J, Boye, A, Bruckert, E, Cadinot, D, Lejay, D, Revol, T, Schaupp, T, Bonnet, J, Paillard, F, Moulin, P, Junggeburth, J, Isermann, B, Zühlke, M, Züchner, D, Theis, E, Stößel, J, König, Hj, Rinke, A, Piechatzek, R, Contzen, C, Lappo, M, Himpel Boenninghoff, Aa, Meissner, G, Maus, O, Degtyareva, E, Schulze, Ed, Horacek, T, Marten, I, Becher, P, Matoltsy, A, Nyirati, G, Paragh, G, Zilahi, Z, Nagy, K, Kanakaridisz, N, Beke, E, Biro, J, Schnabel, R, Elias, M, Gavish, D, Francis, A, Nseir, W, Zimlichman, R, Pozzi, C, Lembo, G, Bucci, M, Mezzetti, A, De Pellegrin, Am, Salvioni, A, De Cesare, N, Briones, Ir, Campos, Pf, Rosas, El, Espinosa, Ev, Salazar, Ma, Ruiz, Ab, Furusho, Lc, Olvera, I, Stroes, E, van den Berg, R, Basart, D, Köse, V, Kentgens, S, Peeters, M, Hoogendijk, J, Voors Pette, C, Agous, I, van Kempen, W, Lingan, Gr, Kooy, A, Troquay, R, Herrman, J, Hoivik, H, Norheim, P, Risberg, K, Høivik, Ho, Elle, S, Derezinski, T, Miekus, P, Ogorek, M, Szymkowiak, K, Cesar, M, Gawron, A, Dabrowska, M, Blach, E, Konieczny, M, Sidor, M, Matias, F, da Silva, Pm, Carvalho, D, Mendonca, I, Andor, M, Andrei, L, Podoleanu, C, Pop, C, Chizhov, P, Chumakova, G, Goloschekin, B, Libov, I, Paltsman, Z, Strutinskiy, A, Koziolova, N, Breedt, J, Ebrahim, I, Ellis, G, Fulat, M, van Rensburg, Dj, Raal, F, van Dyk, C, Vally, T, van der Walt, E, Kotzé, H, Landman, C, Tayob, M, Caixas, A, García, Lr, Fernandez Cruz, A, Gil Extremera, B, Grijalvo, Om, Plana, N, Fuentes, F, Valdivielso, P, Fraile, B, Borgencrantz, B, Larnefeldt, H, Tengmark, Bo, Eriksson, M, Olsson Önerud, Å, Amalyan, W, Dyadyk, O, Koval, O, Kushnir, M, Svintsitskiy, A, Kovalyov, O, Bondarchuk, O, Tashchuk, V, Barna, O, Prokhorov, O, Karpenko, O, Stanciu, D, Pawa, R, Balaji, H, Doig, F, Harvey, P, Ranganath, L, Massalski, W, Hassanin, H, Timmis, H, Pavel Knox, I, Abdulhakim, E, Oyesile, B, Horvathova, V, Donnachie, H, Kondagunta, V, Shaw, H, Thomas, H, Kadr, H, Gunstone, A, Lip, G, Ellery, A, Kerrane, J, Sarker, A, Wong, Yk, Soran, H, Maw, K, Andersen, J, Blair Britt, L, Huffman, C, Kivitz, A, Marple, R, Patron, A, Schear, M, Allegar, N, Awasty, V, Casanova, R, Chaykin, L, Cohen, L, Collins, H, Collins, G, Elkin, G, Reyes, H, Feld, L, Fuller, G, Glover, R, Greenwald, J, Herrod, J, Kaye, W, Kimmel, M, Kolettis, E, Lakin, G, Lorch, D, Palatnik, M, Patel, R, Reichman, A, Rohlf, J, Shockey, G, Shore, K, Radin, D, Alvarado, O, Bellingar, B, Egelhof, R, Mcknight, T, Plevin, S, Pritchard, J, Reddy, R, Velazquez, F, Bolster, E, Broker, R, Butuk, D, Cheung, D, Cohen, K, Golden, G, Murray, A, Naccarato, T, Uusinarkaus, K, Pudi, K, Graff, A, Blumberg, V, Dunn, F, Toth, P, Anspach, R, Chuang, R, Meli, J, Nevins, B, Wayne, J, Schmidt, L, Levinsky, D, Rubino, J, Shealy, N, Torres, D, West, J, Jain, R, Vardi, G, Singh, N, Thew, S, Lo, E, Heitner, J, Gerber, J, Malik, A, Weinstein, D, Prashad, R, Koren, M, Ghitis, A, David, W, Reis, G, Kinzfogl, G, Haught, H, Kantaros, L, O'Dea, D, Weiss, D, Kassas, S, Hunter, J, Mollod, M, Khan, N, Henderson, D, Gatien, L, Schramm, R, Madder, R, Voyce, S, Nadar, V, Stich, M, Kumar, M, Black, R, Treasure, C, Lebeis, M, Mccullough, P, Lepor, N, Moriarty, P, Waxler, A, Talreja, D, Gen, M, Dohad, S, East, C, Conrad, G, Asbill, B, Roberts, J, Robinson, J, Zarich, S, Davis, B, Krolick, M, Sherman, H, Thompson, P., RUBBA, PAOLO OSVALDO FEDERICO, Robinson, Jg, Farnier, M, Krempf, M, Bergeron, J, Luc, G, Averna, M, Stroes, E, Langslet, G, Raal, Fj, El Shahawy, M, Koren, Mj, Lepor, Ne, Lorenzato, C, Pordy, R, Chaudhari, U, Kastelein, Jj, Caccavo, A, Codutti, O, Gelersztein, E, Vico, M, Zaidman, C, Majul, C, Balthazar, Y, Capiau, L, Vrolix, M, Vermeersch, P, Gotchev, D, Todorov, G, Tumbev, H, Tzekova, M, Gronkova, N, Dimov, B, Nikolaeva, A, Devedzhiev, T, Mincheva, V, D'Ignazio, G, Dzongowski, P, Elliott, T, Hart, R, Hoag, G, Martinho, V, O'Mahony, M, Tellier, G, Pandey, S, Heaton, K, Constance, C, Phaneuf, Dc, Shu, D, Narvaez, Nc, Cañon, Co, Cardenas, Sp, Loayza, M, de Salazar, Dm, Lopez, Rb, Gomez, Ji, Mendoza, Ja, Cure, Cc, Ceska, R, Zidkova, E, Jansky, P, Egstrup, K, Klausen, Ib, Lomholdt, J, Gislason, G, Torp Pedersen, C, Poulsen, S, Kuusela, M, Kekki, S, Nieminen, S, Tuomilehto, J, Boye, A, Bruckert, E, Cadinot, D, Lejay, D, Revol, T, Schaupp, T, Bonnet, J, Paillard, F, Moulin, P, Junggeburth, J, Isermann, B, Zühlke, M, Züchner, D, Theis, E, Stößel, J, König, Hj, Rinke, A, Piechatzek, R, Contzen, C, Lappo, M, Himpel Boenninghoff, Aa, Meissner, G, Maus, O, Degtyareva, E, Schulze, Ed, Horacek, T, Marten, I, Becher, P, Matoltsy, A, Nyirati, G, Paragh, G, Zilahi, Z, Nagy, K, Kanakaridisz, N, Beke, E, Biro, J, Schnabel, R, Elias, M, Gavish, D, Francis, A, Nseir, W, Zimlichman, R, Pozzi, C, Lembo, G, Bucci, M, Mezzetti, A, Rubba, PAOLO OSVALDO FEDERICO, De Pellegrin, Am, Salvioni, A, De Cesare, N, Briones, Ir, Campos, Pf, Rosas, El, Espinosa, Ev, Salazar, Ma, Ruiz, Ab, Furusho, Lc, Olvera, I, van den Berg, R, Basart, D, Köse, V, Kentgens, S, Peeters, M, Hoogendijk, J, Voors Pette, C, Agous, I, van Kempen, W, Lingan, Gr, Kooy, A, Troquay, R, Herrman, J, Hoivik, H, Norheim, P, Risberg, K, Høivik, Ho, Elle, S, Derezinski, T, Miekus, P, Ogorek, M, Szymkowiak, K, Cesar, M, Gawron, A, Dabrowska, M, Blach, E, Konieczny, M, Sidor, M, Matias, F, da Silva, Pm, Carvalho, D, Mendonca, I, Andor, M, Andrei, L, Podoleanu, C, Pop, C, Chizhov, P, Chumakova, G, Goloschekin, B, Libov, I, Paltsman, Z, Strutinskiy, A, Koziolova, N, Breedt, J, Ebrahim, I, Ellis, G, Fulat, M, van Rensburg, Dj, Raal, F, van Dyk, C, Vally, T, van der Walt, E, Kotzé, H, Landman, C, Tayob, M, Caixas, A, García, Lr, Fernandez Cruz, A, Gil Extremera, B, Grijalvo, Om, Plana, N, Fuentes, F, Valdivielso, P, Fraile, B, Borgencrantz, B, Larnefeldt, H, Tengmark, Bo, Eriksson, M, Olsson Önerud, Å, Amalyan, W, Dyadyk, O, Koval, O, Kushnir, M, Svintsitskiy, A, Kovalyov, O, Bondarchuk, O, Tashchuk, V, Barna, O, Prokhorov, O, Karpenko, O, Stanciu, D, Pawa, R, Balaji, H, Doig, F, Harvey, P, Ranganath, L, Massalski, W, Hassanin, H, Timmis, H, Pavel Knox, I, Abdulhakim, E, Oyesile, B, Horvathova, V, Donnachie, H, Kondagunta, V, Shaw, H, Thomas, H, Kadr, H, Gunstone, A, Lip, G, Ellery, A, Kerrane, J, Sarker, A, Wong, Yk, Soran, H, Maw, K, Andersen, J, Blair Britt, L, Huffman, C, Kivitz, A, Marple, R, Patron, A, Schear, M, Allegar, N, Awasty, V, Casanova, R, Chaykin, L, Cohen, L, Collins, H, Collins, G, Elkin, G, Reyes, H, Feld, L, Fuller, G, Glover, R, Greenwald, J, Herrod, J, Kaye, W, Kimmel, M, Kolettis, E, Lakin, G, Lorch, D, Palatnik, M, Patel, R, Reichman, A, Rohlf, J, Shockey, G, Shore, K, Radin, D, Alvarado, O, Bellingar, B, Egelhof, R, Mcknight, T, Plevin, S, Pritchard, J, Reddy, R, Velazquez, F, Bolster, E, Broker, R, Butuk, D, Cheung, D, Cohen, K, Golden, G, Murray, A, Naccarato, T, Uusinarkaus, K, Pudi, K, Graff, A, Blumberg, V, Dunn, F, Toth, P, Anspach, R, Chuang, R, Meli, J, Nevins, B, Wayne, J, Schmidt, L, Levinsky, D, Rubino, J, Shealy, N, Torres, D, West, J, Jain, R, Vardi, G, Singh, N, Thew, S, Lo, E, Heitner, J, Gerber, J, Malik, A, Weinstein, D, Prashad, R, Koren, M, Ghitis, A, David, W, Reis, G, Kinzfogl, G, Haught, H, Kantaros, L, O'Dea, D, Weiss, D, Kassas, S, Hunter, J, Mollod, M, Khan, N, Henderson, D, Gatien, L, Schramm, R, Madder, R, Voyce, S, Nadar, V, Stich, M, Kumar, M, Black, R, Treasure, C, Lebeis, M, Mccullough, P, Lepor, N, Moriarty, P, Waxler, A, Talreja, D, Gen, M, Dohad, S, East, C, Conrad, G, Asbill, B, Roberts, J, Robinson, J, Zarich, S, Davis, B, Krolick, M, Sherman, H, and Thompson, P.

Published
2015

3. Nonalcoholic fatty liver and metabolic syndrome in Italy: results from a multicentric study of the Italian Arteriosclerosis society

Author

Soresi, M, Noto, D, Cefalù, Ab, Martini, S, Vigna, Gb, Fonda, M, Manzato, E, Cattin, L, Fellin, R, Averna, Mr, Notarbartolo, A, Pujia, A, Montalcini, T, Mezzetti, A, Bucci, M, Mannarino, E, Pirro, M, Catapano, A, Norata, D, Gentile, M, Cocorullo, G, Montalto, G, Federici, M, Lauro, D., RUBBA, PAOLO OSVALDO FEDERICO, Soresi, M, Noto, D, Cefalù, Ab, Martini, S, Vigna, Gb, Fonda, M, Manzato, E, Cattin, L, Fellin, R, Averna, Mr, Notarbartolo, A, Pujia, A, Montalcini, T, Mezzetti, A, Bucci, M, Mannarino, E, Pirro, M, Catapano, A, Norata, D, Rubba, PAOLO OSVALDO FEDERICO, Gentile, M, Cocorullo, G, Montalto, G, Federici, M, and Lauro, D.

Published
2013

6. IDENTIFICATION AND FUNCTIONALCHARACTERIZATION OF A NEW MUTATIONLEADING TO DEFECTIVE UPTAKEOF LDL-LDLR COMPLEX

Author

A. Ruotolo, M. Romano, M. D. Di Taranto, P. Mirabelli, M. N. D’Agostino, A. Iannuzzi, G. Marotta, M. Gentile, R. Di Noto, L. Del Vecchio, RUBBA, PAOLO OSVALDO FEDERICO, FORTUNATO, GIULIANA, Ruotolo, A., Romano, M., Di Taranto, M. D., Mirabelli, P., D’Agostino, M. N., Iannuzzi, A., Marotta, G., Gentile, M., Di Noto, R., Del Vecchio, L., Rubba, PAOLO OSVALDO FEDERICO, and Fortunato, Giuliana

Published
2011

8. Identification and functional characterization of a new mutation leading to defective uptake of LDL-LDLR complex

Author

A. Ruotolo, M. Romano, M. D. Di Taranto, P. Mirabelli, A. Iannuzzi, M. Gentile, D'AGOSTINO, MARIA NICOLETTA, MAROTTA, GENNARO, DI NOTO, ROSA, DEL VECCHIO, LUIGI, RUBBA, PAOLO OSVALDO FEDERICO, FORTUNATO, GIULIANA, Ruotolo, A., Romano, M., Di Taranto, M. D., Mirabelli, P., D'Agostino, MARIA NICOLETTA, Iannuzzi, A., Marotta, Gennaro, Gentile, M., DI NOTO, Rosa, DEL VECCHIO, Luigi, Rubba, PAOLO OSVALDO FEDERICO, and Fortunato, Giuliana

Published
2011

9. ASSOCIATION BETWEEN SMALL DENSELDL AND PSORIATIC ARTHRITIS

Author

M. Gentile, S. Iervolino, PELUSO, ROSARIO, Dario di Minno, B. de Simone, G. Iannuzzo, R. Scarpa, RUBBA, PAOLO OSVALDO FEDERICO, Gentile, M., Iervolino, S., Peluso, Rosario, Dario di Minno, de Simone, B., Iannuzzo, G., Scarpa, R., and Rubba, PAOLO OSVALDO FEDERICO

Published
2011

10. ECHOCARDIOGRAFIC ANDECO-DOPPLER ABNORMALITIESIN RELATION TO LDL CHOLESTEROLIN FAMILIAL HYPERCHOLESTEROLEMIA

Author

M. G. Coppola, F. Jossa, M. Nunziata, M. Gentile, DE SIMONE, GIOVANNI, M. De Marco, G. Fortunato, M. N. D’Agostino, M. D. Di Taranto, G. Marotta, RUBBA, PAOLO OSVALDO FEDERICO, Coppola, M. G., Jossa, F., Nunziata, M., Gentile, M., DE SIMONE, Giovanni, De Marco, M., Fortunato, G., D’Agostino, M. N., Di Taranto, M. D., Marotta, G., and Rubba, PAOLO OSVALDO FEDERICO

Published
2011

15. IDENTIFICATION OF LDLR MUTATIONSIN PATIENTS WITH FAMILIAL COMBINEDHYPERLIPIDEMIA

Author

M. N. D’Agostino, M. D. Di Taranto, E. Bloise, A. D’Angelo, I. Altieri, G. Marotta, M. Gentile, F. Jossa, A. Iannuzzi, RUBBA, PAOLO OSVALDO FEDERICO, G. Fortunato, D’Agostino, M. N., Di Taranto, M. D., Bloise, E., D’Angelo, A., Altieri, I., Marotta, G., Gentile, M., Jossa, F., Iannuzzi, A., Rubba, PAOLO OSVALDO FEDERICO, and Fortunato, G.

Published
2011

16. HYPERLIPIDEMIAS HOSPITAL PATHWAYMANAGEMENT

Author

F. Rubba, G. Mancini, F. Verdesca, M. Gentile, G. Marotta, F. Jossa, G. Fortunato, G. Canfora, P. Cuccaro, E. Giancotti, RUBBA, PAOLO OSVALDO FEDERICO, Rubba, F., Mancini, G., Verdesca, F., Gentile, M., Marotta, G., Jossa, F., Fortunato, G., Canfora, G., Cuccaro, P., Rubba, PAOLO OSVALDO FEDERICO, and Giancotti, E.

Published
2011

18. An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations

Author

Romano M, Di Taranto MD, Mirabelli P, Iannuzzi A, Gentile M, Raia M, D'AGOSTINO, MARIA NICOLETTA, MAROTTA, GENNARO, DI NOTO, ROSA, DEL VECCHIO, LUIGI, RUBBA, PAOLO OSVALDO FEDERICO, FORTUNATO, GIULIANA, Romano, M, DI TARANTO, MARIA DONATA, Mirabelli, P, D'Agostino, MARIA NICOLETTA, Iannuzzi, A, Marotta, Gennaro, Gentile, M, Raia, M, DI NOTO, Rosa, DEL VECCHIO, Luigi, Rubba, PAOLO OSVALDO FEDERICO, and Fortunato, Giuliana

Abstract

The main causes of familial hypercholesterolemia (FH) are mutations in LDL receptor (LDLR) gene. Functional studies are necessary to demonstrate the LDLR function impairment caused by mutations and would be useful as a diagnostic tool if they allow discrimination between FH patients and controls. In order to identify the best method to detect LDLR activity, we compared continuous Epstein-Barr virus (EBV)-transformed B-lymphocytes and mitogen stimulated T-lymphocytes. In addition, we characterized both novel and known mutations in the LDLR gene. T-lymphocytes and EBV-transformed B-lymphocytes were obtained from peripheral blood of 24 FH patients and 24 control subjects. Functional assays were performed by incubation with fluorescent LDL followed by flow cytometry analysis. Residual LDLR activity was calculated normalizing fluorescence for the mean fluorescence of controls. With stimulated T-lymphocytes we obtained a better discrimination capacity between controls and FH patients compared with EBV-transformed B-lymphocytes as demonstrated by receiver operating characteristic (ROC) curve analysis (the areas under the curve are 1.000 and 0.984 respectively; P < 0.0001 both). The characterization of LDLR activity through T-lymphocytes is more simple and faster than the use of EBV-transformed B-lymphocytes and allows a complete discrimination between controls and FH patients. Therefore the evaluation of residual LDLR activity could be helpful not only for mutation characterization but also for diagnostic purposes.

Published
2011

19. Toyotism modelind inside the regional network for inherited lipid disorders

Author

Mancini G., Rubba F., Gentile M., Jossa F., de Simone B., Marotta G., Cipollaro R., TRIASSI, MARIA, Giancotti E., RUBBA, PAOLO OSVALDO FEDERICO, Mancini, G., Rubba, F., Gentile, M., Jossa, F., de Simone, B., Marotta, G., Cipollaro, R., Triassi, Maria, Rubba, PAOLO OSVALDO FEDERICO, and Giancotti, E.

Published
2010

20. Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy

Author

Romano M., Di Taranto M. D., D'AGOSTINO, MARIA NICOLETTA, MAROTTA, GENNARO, Gentile M., Abate G., Mirabelli P., DI NOTO, ROSA, DEL VECCHIO, LUIGI, RUBBA, PAOLO OSVALDO FEDERICO, FORTUNATO, GIULIANA, Romano, M., Di Taranto, M. D., D'Agostino, MARIA NICOLETTA, Marotta, Gennaro, Gentile, M., Abate, G., Mirabelli, P., DI NOTO, Rosa, DEL VECCHIO, Luigi, Rubba, PAOLO OSVALDO FEDERICO, and Fortunato, Giuliana

Abstract

OBJECTIVE: Autosomal dominant hypercholesterolemias are due to defects in the LDL receptor (LDLR) gene, in the apolipoprotein B-100 gene or in the proprotein convertase subtilisin/kexin type 9 gene. The aim of this study was to identify and functionally characterize mutations in the LDLR gene that account for most cases of familial hypercholesterolemia (FH). METHODS: We enrolled 56 unrelated patients from Southern Italy with a clinical diagnosis of FH. The mutation screening was performed by direct sequencing of the promoter and the 18 exons of the LDLR gene and by multiplex ligation-dependent probe amplification (MLPA) analysis to search for large rearrangements. RESULTS AND CONCLUSION: We found 5 new mutations, the causative role of which was demonstrated by functional characterization performed by quantification of fluorescent LDL uptake in EBV-transformed B lymphocytes. These results enlarge the spectrum of FH-causative LDLR mutations. Lastly, screening for large rearrangements is highly recommended for the genetic diagnosis of FH.

Published
2010

22. A first comparative study on two cell colture techniques – stimulated T cells and continous lymphoblastoid cell lines – in the detection of LDL receptor residual activity versus molecular genetic analysys

Author

Romano M., Mirabelli P., D’Agostino M.N., Di Taranto M.D., Marotta G., Gentile M., Abate G., Di Noto R., Del Vecchio L., Fortunato G., RUBBA, PAOLO OSVALDO FEDERICO, Romano, M., Mirabelli, P., D’Agostino, M. N., Di Taranto, M. D., Marotta, G., Gentile, M., Abate, G., Di Noto, R., Del Vecchio, L., Rubba, PAOLO OSVALDO FEDERICO, and Fortunato, G.

Published
2010

23. A case of cerebrotendinous xantomatosis in a woman with a normal colesterolemia

Author

Gelzo M., Marotta G., Di Taranto M.D., D’Agostino M.N., Gentile M., Fortunato G., Dello Russo A., Corso G., RUBBA, PAOLO OSVALDO FEDERICO, Gelzo, M., Marotta, G., Di Taranto, M. D., D’Agostino, M. N., Gentile, M., Fortunato, G., Dello Russo, A., Rubba, PAOLO OSVALDO FEDERICO, and Corso, G.

Published
2010

24. Plasma Exchange and heterozygous FH: a case report

Author

Nunziata M., Coppola M.G., Maresca L., Sodano M., Gentile M., Marotta G., Fortunato G., D’Agostino M.N., Romano M., SCARPATO, NICOLA, RUBBA, PAOLO OSVALDO FEDERICO, Nunziata, M., Coppola, M. G., Maresca, L., Sodano, M., Gentile, M., Marotta, G., Fortunato, G., D’Agostino, M. N., Romano, M., Scarpato, Nicola, and Rubba, PAOLO OSVALDO FEDERICO

Published
2010

26. Familial hypercholesterolemia: a flow chart for the molecular diagnosis

Author

D'AGOSTINO, MARIA NICOLETTA, RUBBA, PAOLO OSVALDO FEDERICO, FORTUNATO, GIULIANA, M. Romano, M. D. Di Taranto, G. Marotta, M. Gentile, D'Agostino, MARIA NICOLETTA, Romano, M., Di Taranto, M. D., Marotta, G., Gentile, M., Rubba, PAOLO OSVALDO FEDERICO, and Fortunato, Giuliana

Published
2010

27. A case of cerebrotendinous xanthomatosis in a woman with a normal cholesterolemia

Author

GELZO, MONICA, DELLO RUSSO, ANTONIO, Marotta G, Di Taranto MD, D’Agostino MN, Gentile M, Fortunato G, RUBBA, PAOLO OSVALDO FEDERICO, Corso G., Gelzo, Monica, Marotta, G, DI TARANTO, MARIA DONATA, D’Agostino, Mn, Gentile, M, Fortunato, G, DELLO RUSSO, Antonio, Rubba, PAOLO OSVALDO FEDERICO, and Corso, G.

Published
2010

30. Vascular preventive measures: the progression from asymptomatic to symptomatic atherosclerosis management. Evidence on usefulness of early diagnosis in women and children. Future Cardiology 2010 Mar;6(2):211-20

Author

Rubba F, Gentile M, Iannuzzi A, PANICO, SALVATORE, Mattiello A, QUAGLIATA, LUIGI, TRIASSI, MARIA, RUBBA, PAOLO OSVALDO FEDERICO, Rubba, F, Gentile, M, Iannuzzi, A, Panico, Salvatore, Mattiello, A, Quagliata, Luigi, Triassi, Maria, and Rubba, PAOLO OSVALDO FEDERICO

Subjects
Vascular preventive measures, atherosclerosis management
Abstract

This review reports our experience in evaluating the progression from asymptomatic to symptomatic atherosclerosis in an evidence-based context. In particular, studies published in the last 5 years were analyzed in more detail and their relevance to cardiovascular prevention in women and children is discussed. The evaluation of carotid artery intima-media thickness by ultrasonography and the measurement of coronary artery calcification using computed tomography scanning can provide evidence for the presence and extent of atherosclerosis in adults. Intima-media thickness was demonstrated to predict prognosis and help in clinical decision making. Computed tomography estimates of advanced coronary atherosclerosis are markers of advanced atherosclerosis and are of value for screening adult men, but their value in women and children is doubtful owing to radiation risk. Intima-media thickness measurement, even when acknowledging its limitations, is a preferred approach, with the promising perspective of the availability of portable devices of lower cost in the near future. Further evaluation of the potential role for the emerging biomarkers and imaging techniques could clarify the clinical relevance of emerging risk profiles such as the metabolic syndrome. Ultrasound methods provide information regarding the extent and progression of early atherosclerotic abnormalities in women and in children and predict cardiovascular prognosis.

Published
2010

32. Apo B, Small-dense LDL and carotid atherosclerosis in menopausal women

Author

Gentile M., RUBBA, PAOLO OSVALDO FEDERICO, Pauciullo P., IANNUZZO, GABRIELLA, Faccenda F., UBALDI, STEFANIA MARIA, SODANO, MARTA, Marotta G., Jossa F., Mattiello A., PANICO, SALVATORE, Gentile, M., Rubba, PAOLO OSVALDO FEDERICO, Pauciullo, P., Iannuzzo, Gabriella, Faccenda, F., Ubaldi, STEFANIA MARIA, Sodano, Marta, Marotta, G., Jossa, F., Mattiello, A., and Panico, Salvatore

Published
2009

35. Regulatory networks and regulatory sequences in familial combined hyperlipidemia patients

Author

M. Coiro, F. Vuolo, I. Donnarumma, L. Gambardella, L. de Magistris, M. Gentile, PAUCIULLO, PAOLO, RUBBA, PAOLO OSVALDO FEDERICO, DE SIMONE, VINCENZO, M., Coiro, F., Vuolo, I., Donnarumma, L., Gambardella, L., de Magistri, Pauciullo, Paolo, M., Gentile, Rubba, PAOLO OSVALDO FEDERICO, and DE SIMONE, Vincenzo

Subjects
Trascrittomica, System Biology, Bioinformatica
Abstract

Familial combined hyperlipidemia (FCHL) is the most frequent dislipidemic syndrome in our population, and it is strictly associated to the insurgence of coronary artery diseases in affected patients. In a previous project we have carried out a “genome wide” gene expression profiles analysis in FCHL patients as compared to normal control individuals, showing that the expression levels of approx. 300 genes are significantly altered (increased or reduced) in association to the disease. Statins are the elective drugs for treatment of this syndrome. The gene expression profiles of FCHL patients before and after statin treatment reveal that administration the drug for a minimum of 4 weeks "restores” the expression levels of most of the altered genes to "normal" values, in some cases causing hypo-expressed genes to became hyper-expressed. These results reveal the existence of regulatory interconnections among subsets of genes affected by FCHL syndrome. In order to identify putative common cis-acting sequence elements involved in the transcriptional regulation by statins, we searched the 5' upstream region of these genes for enriched short sequence motifs. We have analysed the -400/-200, -200/+1 and +1/+200 (relative to the transcriptional start site) human genomic sequences corresponding to both up- and down-regulated genes, obtaining six dataset. Each dataset has been searched with the MEME algorithm, setting the program to display up to 10 motifs, and using three different width windows (5-10, 6-15 or 10-20 nucleotides). We have identified some specifically enriched consensus sequences. One of these motifs is present in either the -400/-200 or the -200/+1 region of the majority (70%) of the up-regulated genes. We have synthesised double strand DNA fragments containing this consensus sequence in order to carry out EMSA (electrophoretic mobility shift assays) experiments with nuclear extracts from statin-treated cell cultures. These experiments are in presently in progress.

Published
2009

36. Familial Combined hyperlipidemia and IMT

Author

Covetti G., Iannuzzi A., Gentile M., Pauciullo P., Iannuzzo G., Marotta G., Bresciani A., PANICO, SALVATORE, RUBBA, PAOLO OSVALDO FEDERICO, Covetti, G., Iannuzzi, A., Gentile, M., Pauciullo, P., Iannuzzo, G., Marotta, G., Bresciani, A., Panico, Salvatore, and Rubba, PAOLO OSVALDO FEDERICO

Published
2009

37. Obesity, overweight and carotid atherosclerosis in menopausal women

Author

RUBBA, PAOLO OSVALDO FEDERICO, G.e.n.t.i.l.e.M., Mattiello A., Rubba P., Baiano A., Nunziata M., Chiodini P., PANICO, SALVATORE, Rubba, PAOLO OSVALDO FEDERICO, G. e. n. t. i. l. e., M., Mattiello, A., Rubba, P., Baiano, A., Nunziata, M., Chiodini, P., and Panico, Salvatore

Published
2009

43. Effects of weight modification on hs-crp in a cohort of mediterranean women: findings from progetto atena

Author

Gentile M., Mattiello A., Pauciullo P., Jossa F., Marotta G., SANTUCCI DE MAGISTRIS, MARIA, Del Pezzo M., Iannuzzo G., Rubba F., RUBBA, PAOLO OSVALDO FEDERICO, PANICO, SALVATORE, Gentile, M., Mattiello, A., Pauciullo, P., Jossa, F., Marotta, G., SANTUCCI DE MAGISTRIS, Maria, Del Pezzo, M., Iannuzzo, G., Rubba, F., Rubba, PAOLO OSVALDO FEDERICO, and Panico, Salvatore

Published
2008

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