Search

Your search keyword '"Consalvo D"' showing total 208 results
Start Over Author "Consalvo D"
208 results on '"Consalvo D"'

1. OC.14.2: THE MANAGEMENT OF CHRONIC CONSTIPATION IN ITALY: RESULTS FROM A SURVEY CONDUCTED AMONG ITALIAN GASTROENTEROLOGISTS

Author

Lambiase, C., primary, Consalvo, D., additional, Valenzi, E., additional, Battaglia, E., additional, Cataudella, G., additional, Londoni, C., additional, Neri, M.C., additional, Rossitti, P., additional, Benedetti, A., additional, Soncini, M., additional, Parodi, M.C., additional, Bellini, M., additional, and D'Alba, L., additional

Published
2024
Full Text
View/download PDF

2. The practical management of chronic constipation as detected by a survey conducted on Italian gastroenterologists

Author

Fabbri, Carlo, Spada, Cristiano, Aragona, S. E., Ciprandi, Guido, Alberico, G., Antoniazzi, S., Arrigoni, A., Astegiano, M., Astretto, S., Baroni, S., Battaglia, E., Belcari, C., Beretta, P., Bianchetti, Maddalena, Bianchi, M. L., Bindi, B., Buda, C., Camilleri, S., Caronna, S., Cautela, G., Cavallaro, Fabio, Cocco, A., Colucci, R., Consalvo, D., Cordone, G., Cortelezzi, C., Cozzoli, G., Curro, E. A., Damiani, Andrea, D'Amore, F., De Falco, P., De Girolamo, Maria Vittoria, De Luca, L., Di Lorenzo, F., Di Marzo, S., Di Nardo, G., Ferrara, M., Fiaccavento, R., Fina, D., Frasca, R., Gallo, M., Gennarelli, N., Ghittoni, G., Giangregorio, F., Giannetti, A., Giglio, L. A., Giuncato, S., Grosso, S., Iannuzziello, D., Ibba, I., Incarbone, S., La Spada, S., Lagoussis, P., Lecca, G., Leonardi, G., Licari, G., Lucia, Mothanje Barbara Patricia, Lupinacci, G., Magri, S., Oppezzi, M., Paiano, P., Palombo, V., Pardocchi, D., Parodi, A., Pati, A., Petrini, C., Pinto, A., Pirrotta, P., Piscopo, A., Polimeni, N., Preatoni, P., Quintigliano, D., Radice, E., Ricco, G., Rodella, Luigi Fabrizio, Schettino, M., Schettino, Paola, Schicchi, A. A., Schiffino, L., Severi, C., Sinagra, E., Tarantello, M., Valeri, Giovanni, Vanni, R., Vinti, M., Zulli, C., Fabbri C., Spada C. (ORCID:0000-0002-5692-0960), Ciprandi G., Bianchetti M., Cavallaro F., Damiani A., De Girolamo V., Lucia M. (ORCID:0000-0001-7648-2198), Rodella L., Schettino P., Valeri G., Fabbri, Carlo, Spada, Cristiano, Aragona, S. E., Ciprandi, Guido, Alberico, G., Antoniazzi, S., Arrigoni, A., Astegiano, M., Astretto, S., Baroni, S., Battaglia, E., Belcari, C., Beretta, P., Bianchetti, Maddalena, Bianchi, M. L., Bindi, B., Buda, C., Camilleri, S., Caronna, S., Cautela, G., Cavallaro, Fabio, Cocco, A., Colucci, R., Consalvo, D., Cordone, G., Cortelezzi, C., Cozzoli, G., Curro, E. A., Damiani, Andrea, D'Amore, F., De Falco, P., De Girolamo, Maria Vittoria, De Luca, L., Di Lorenzo, F., Di Marzo, S., Di Nardo, G., Ferrara, M., Fiaccavento, R., Fina, D., Frasca, R., Gallo, M., Gennarelli, N., Ghittoni, G., Giangregorio, F., Giannetti, A., Giglio, L. A., Giuncato, S., Grosso, S., Iannuzziello, D., Ibba, I., Incarbone, S., La Spada, S., Lagoussis, P., Lecca, G., Leonardi, G., Licari, G., Lucia, Mothanje Barbara Patricia, Lupinacci, G., Magri, S., Oppezzi, M., Paiano, P., Palombo, V., Pardocchi, D., Parodi, A., Pati, A., Petrini, C., Pinto, A., Pirrotta, P., Piscopo, A., Polimeni, N., Preatoni, P., Quintigliano, D., Radice, E., Ricco, G., Rodella, Luigi Fabrizio, Schettino, M., Schettino, Paola, Schicchi, A. A., Schiffino, L., Severi, C., Sinagra, E., Tarantello, M., Valeri, Giovanni, Vanni, R., Vinti, M., Zulli, C., Fabbri C., Spada C. (ORCID:0000-0002-5692-0960), Ciprandi G., Bianchetti M., Cavallaro F., Damiani A., De Girolamo V., Lucia M. (ORCID:0000-0001-7648-2198), Rodella L., Schettino P., and Valeri G.

Abstract

BACKGROUND: Chronic constipation represents a widespread medical condition, mainly in elderly people. The management is compelling as these patients frequently have comorbidity and polypharmacy. Polyethylene glycol (PEG) is commonly used but does not resolve some complaints, mainly concerning pain and bloating. Therefore, a new medical device containing PEG plus simethicone, an antifoaming agent, has been developed. The present survey explored its use in clinical practice. METHODS: A group of 64 Italian gastroenterologists visited 2426 patients with chronic primary constipation. In about two/third, gastroenterologists freely prescribed the new medical device, and in the remaining patients, other treatments were freely chosen by doctors. Patients were followed up for three months. The number of evacuations, stool characteristics, patients’ perception of illness assessed by VAS, frequency of patients with pain and intestinal symptoms, and discontinuing patients was observed during the experience. RESULTS: The new medical device was significantly better than other therapies in improving all parameters (P<0.05 for all parameters). CONCLUSIONS: The present survey demonstrated that a new medical device containing PEG plus simethicone represents a favorable option in managing patients with chronic primary constipation as significantly and safely improves intestinal transit, reduces stool consistency, reduces symptom severity, and is highly satisfactory.

Published
2023

3. Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

Author

Koko, M, Motelow, JE, Stanley, KE, Bobbili, DR, Dhindsa, RS, May, P, Alldredge, BK, Allen, AS, Altmüller, J, Amrom, D, Andermann, E, Auce, P, Avbersek, A, Baulac, S, Bautista, JF, Becker, F, Bellows, Susannah, Berghuis, B, Berkovic, SF, Bluvstein, J, Boro, A, Bridgers, J, Burgess, R, Caglayan, H, Cascino, GD, Cavalleri, GL, Chung, SK, Cieuta-Walti, C, Cloutier, V, Consalvo, D, Cossette, P, Crumrine, P, Delanty, N, Depondt, C, Desbiens, R, Devinsky, O, Dlugos, D, Epstein, MP, Everett, K, Fiol, M, Fountain, NB, Francis, B, French, J, Freyer, C, Friedman, D, Gambardella, A, Geller, EB, Girard, S, Glauser, T, Glynn, S, Goldstein, DB, Gravel, M, Haas, K, Haut, SR, Heinzen, EL, Helbig, I, Hildebrand, MS, Johnson, MR, Jorgensen, A, Joshi, S, Kanner, A, Kirsch, HE, Klein, KM, Knowlton, RC, Koeleman, BPC, Kossoff, EH, Krause, R, Krenn, M, Kunz, WS, Kuzniecky, R, Langley, SR, LeGuern, E, Lehesjoki, AE, Lerche, H, Leu, C, Lortie, A, Lowenstein, DH, Marson, AG, Mebane, C, Mefford, HC, Meloche, C, Moreau, C, Motika, PV, Muhle, H, Møller, RS, Nabbout, R, Nguyen, DK, Nikanorova, M, Novotny, EJ, Nürnberg, P, Ottman, R, O’Brien, TJ, Paolicchi, JM, Parent, JM, Park, K, Peter, S, Petrou, S, Petrovski, S, Pickrell, WO, Poduri, A, Koko, M, Motelow, JE, Stanley, KE, Bobbili, DR, Dhindsa, RS, May, P, Alldredge, BK, Allen, AS, Altmüller, J, Amrom, D, Andermann, E, Auce, P, Avbersek, A, Baulac, S, Bautista, JF, Becker, F, Bellows, Susannah, Berghuis, B, Berkovic, SF, Bluvstein, J, Boro, A, Bridgers, J, Burgess, R, Caglayan, H, Cascino, GD, Cavalleri, GL, Chung, SK, Cieuta-Walti, C, Cloutier, V, Consalvo, D, Cossette, P, Crumrine, P, Delanty, N, Depondt, C, Desbiens, R, Devinsky, O, Dlugos, D, Epstein, MP, Everett, K, Fiol, M, Fountain, NB, Francis, B, French, J, Freyer, C, Friedman, D, Gambardella, A, Geller, EB, Girard, S, Glauser, T, Glynn, S, Goldstein, DB, Gravel, M, Haas, K, Haut, SR, Heinzen, EL, Helbig, I, Hildebrand, MS, Johnson, MR, Jorgensen, A, Joshi, S, Kanner, A, Kirsch, HE, Klein, KM, Knowlton, RC, Koeleman, BPC, Kossoff, EH, Krause, R, Krenn, M, Kunz, WS, Kuzniecky, R, Langley, SR, LeGuern, E, Lehesjoki, AE, Lerche, H, Leu, C, Lortie, A, Lowenstein, DH, Marson, AG, Mebane, C, Mefford, HC, Meloche, C, Moreau, C, Motika, PV, Muhle, H, Møller, RS, Nabbout, R, Nguyen, DK, Nikanorova, M, Novotny, EJ, Nürnberg, P, Ottman, R, O’Brien, TJ, Paolicchi, JM, Parent, JM, Park, K, Peter, S, Petrou, S, Petrovski, S, Pickrell, WO, and Poduri, A

Published
2022

5. Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

Author

Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A., Radtke, R. A., Rees, M. I., Regan, B. M., Ren, Z., Sadleir, L. G., Sander, J. W., Sander, T., Scheffer, I. E., Schubert, J., Shellhaas, R. A., Sherr, E. H., Shih, J. J., Shinnar, S., Sills, G. J., Singh, R. K., Siren, A., Sirven, J., Sisodiya, S. M., Smith, M. C., Sonsma, A. C. M., Striano, P., Sullivan, J., Thio, L. L., Thomas, R. H., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Wang, Q., Weber, Y. G., Weckhuysen, S., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Wolking, S., Zara, F., Zimprich, F., Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS-CoGIE Consortium, Department of Medical and Clinical Genetics, Medicum, Fonds National de la Recherche - FnR [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Peter, Sarah, Petrou, Steven, Petrovski, Slavé, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Ren, Zhong, Sadleir, Lynette G., Alldredge, Brian K., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Schubert, Julian, Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Sills, Graeme J., Singh, Rani K., Allen, Andrew S., Siren, Auli, Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Striano, Pasquale, Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Altmüller, Janine, Vining, Eileen P. G., Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zara, Federico, Amrom, Dina, Zimprich, Fritz, Andermann, Eva, Auce, Pauls, Avbersek, Andreja, Baulac, Stéphanie, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Bridgers, Joshua, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Cavalleri, Gianpiero L., Chung, Seo-Kyung, Cieuta-Walti, Cécile, Cloutier, Véronique, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fiol, Miguel, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Freyer, Catharine, Friedman, Daniel, Gambardella, Antonio, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Johnson, Michael R., Jorgensen, Andrea, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Klein, Karl M., Knowlton, Robert C., Koeleman, Bobby P. C., Kossoff, Eric H., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Langley, Sarah R., LeGuern, Eric, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lortie, Anne, Lowenstein, Daniel H., Marson, Anthony G., Mebane, Caroline, Mefford, Heather C., Meloche, Caroline, Moreau, Claudia, Motika, Paul V., Muhle, Hiltrud, Møller, Rikke S., Nabbout, Rima, Nguyen, Dang K., Nikanorova, Marina, Novotny, Edward J., Nürnberg, Peter, Ottman, Ruth, O'Brien, Terence J., Paolicchi, Juliann M., Parent, Jack M., and Park, Kristen

Subjects
GABA receptors, Neurology [D14] [Human health sciences], Clinical Sciences, GABA(A) receptors, GABRG2, familial epilepsy, Article, Clinical Research, Receptors, Exome Sequencing, Genetics, 2.1 Biological and endogenous factors, Humans, GGE, Genetic Predisposition to Disease, sporadic epilepsy, EpiPGX Consortium, Aetiology, gamma-Aminobutyric Acid, GABAA receptors, Epi4K Consortium, Epilepsy, Neurology & Neurosurgery, Neurologie [D14] [Sciences de la santé humaine], Generalized, GABA-A, Prevention, Human Genome, Neurosciences, 1184 Genetics, developmental biology, physiology, 3112 Neurosciences, Receptors, GABA-A, EuroEPINOMICS-CoGIE Consortium, Neurology, Case-Control Studies, Epilepsy, Generalized, Canadian Epilepsy Network, Neurology (clinical), Genetics & genetic processes [F10] [Life sciences], 3111 Biomedicine, Human medicine, Génétique & processus génétiques [F10] [Sciences du vivant], Epilepsy Phenome/Genome Project
Abstract

ObjectiveWe aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with individuals with a positive family history. Secondarily, we set out to compare the association of genes independently with familial and sporadic GGE.MethodsWe performed a case-control whole exome sequencing study in unrelated individuals of European descent diagnosed with GGE (previously recruited and sequenced through multiple international collaborations) and ancestry-matched controls. The association of ultra-rare variants (URVs; in 18834 protein-coding genes) with epilepsy was examined in 1928 individuals with GGE (vs. 8578 controls), then separately in 945 individuals with familial GGE (vs. 8626 controls), and finally in 1005 individuals with sporadic GGE (vs. 8621 controls). We additionally examined the association of URVs with familial and sporadic GGE in two gene sets important for inhibitory signaling (19genes encoding γ-aminobutyric acid type A [GABAA ] receptors, 113genes representing the GABAergic pathway).ResultsGABRG2 was associated with GGE (p=1.8×10-5 ), approaching study-wide significance in familial GGE (p=3.0×10-6 ), whereas no gene approached a significant association with sporadic GGE. Deleterious URVs in the most intolerant subgenic regions in genes encoding GABAA receptors were associated with familial GGE (odds ratio [OR]=3.9, 95% confidence interval [CI]=1.9-7.8, false discovery rate [FDR]-adjusted p=.0024), whereas their association with sporadic GGE had marginally lower odds (OR=3.1, 95% CI=1.3-6.7, FDR-adjusted p=.022). URVs in GABAergic pathway genes were associated with familial GGE (OR=1.8, 95% CI=1.3-2.5, FDR-adjusted p=.0024) but not with sporadic GGE (OR=1.3, 95% CI=.9-1.9, FDR-adjusted p=.19).SignificanceURVs in GABRG2 are likely an important risk factor for familial GGE. The association of gene sets of GABAergic signaling with familial GGE is more prominent than with sporadic GGE.

Published
2022

6. AF.3 QUALITY OF LIFE IN PATIENTS COMPLAINING OF UPPER GASTROINTESTINAL SYMPTOMS: A NATIONAL SURVEY IN PATIENTS ATTENDING GASTROENTEROLOGY CLINICS OF THE ITALIAN NHS: AN INTERIM ANALYSIS OF THE GUESS STUDY

Author

Gatta, L., primary, Bellini, M., additional, Montesanti, I., additional, Rentini, S., additional, Biviano, I., additional, Orzes, N., additional, Consalvo, D., additional, Pancetti, A., additional, Rettura, F., additional, Berti, G., additional, Pezzilli, R., additional, Bargiggia, S., additional, Turco, L., additional, De Francesco, V., additional, Torresan, F., additional, Praianò, F., additional, Iovino, P., additional, Facciorusso, A., additional, Cautadella, G., additional, Neri, M.C., additional, Festa, V., additional, Zullo, A., additional, Dezi, A., additional, Borgatta, B., additional, Cannizzaro, R., additional, Milazzo, G., additional, Scarpignato, C., additional, and Monica, F., additional

Published
2021
Full Text
View/download PDF

7. AF.2 A NATIONAL SURVEY OF UPPER GASTROINTESTINAL SYMPTOMS IN PATIENTS ATTENDING GASTROENTEROLOGY CLINICS OF THE ITALIAN NHS: AN INTERIM ANALYSIS OF THE GUESS STUDY

Author

Gatta, L., primary, Bellini, M., additional, Montesanti, I., additional, Rentini, S., additional, Biviano, I., additional, Orzes, N., additional, Pancetti, A., additional, Rettura, F., additional, Berti, G., additional, Consalvo, D., additional, Pezzilli, R., additional, Bargiggia, S., additional, Turco, L., additional, De Francesco, V., additional, Torresan, F., additional, Praianò, F., additional, Iovino, P., additional, Facciorusso, A., additional, Cautadella, G., additional, Neri, M.C., additional, Festa, V., additional, Zullo, A., additional, Dezi, A., additional, Borgatta, B., additional, Cannizzaro, R., additional, Milazzo, G., additional, Scarpignato, C., additional, and Monica, F., additional

Published
2021
Full Text
View/download PDF

8. A NATIONAL SURVEY OF UPPER GASTROINTESTINAL SYMPTOMS IN PATIENTS ATTENDING GASTROENTEROLOGY CLINICS OF THE ITALIAN NHS: AN INTERIM ANALYSIS OF THE GUESS STUDY

Author

Gatta, L, Bellini, M, Montesanti, I, Rentini, S, Biviano, I, Orzes, N, Pancetti, A, Rettura, F, Berti, G, Consalvo, D, Pezzilli, R, Bargiggia, S, Turco, L, De Francesco, V, Torresan, F, Praiano, F, Iovino, P, Facciorusso, A, Cautadella, G, Neri, Mc, Festa, V, Zullo, A, Dezi, A, Borgatta, B, Cannizzaro, R, Milazzo, G, Scarpignato, C, and Monica, F

Published
2021

9. Diverse genetic causes of polymicrogyria with epilepsy

Author

Allen, AS, Aggarwal, V, Berkovic, SF, Cossette, P, Delanty, N, Dlugos, D, Eichler, EE, Epstein, MP, Freyer, C, Goldstein, DB, Guerrini, R, Glauser, T, Heinzen, EL, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Marson, AG, Mefford, HC, O'Brien, TJ, Ottman, R, Poduri, A, Petrou, S, Petrovski, S, Ruzzo, EK, Scheffer, IE, Sherr, EH, Abou-Khalil, B, Amrom, D, Andermann, E, Andermann, F, Bluvstein, J, Boro, A, Cascino, G, Consalvo, D, Crumrine, P, Devinsky, O, Fountain, N, Friedman, D, Geller, E, Glynn, S, Haas, K, Haut, S, Joshi, S, Kirsch, H, Knowlton, R, Kossoff, E, Motika, PV, Paolicchi, JM, Parent, JM, Shellhaas, RA, Shih, JJ, Shinnar, S, Singh, RK, Sperling, M, Smith, MC, Sullivan, J, Vining, EPG, Von Allmen, GK, Widdess-Walsh, P, Winawer, MR, Bautista, J, Fiol, M, Hayward, J, Helmers, S, Park, K, Sirven, J, Thio, LL, Venkat, A, Weisenberg, J, Kuperman, R, McGuire, S, Novotny, E, Sadleir, L, Allen, AS, Aggarwal, V, Berkovic, SF, Cossette, P, Delanty, N, Dlugos, D, Eichler, EE, Epstein, MP, Freyer, C, Goldstein, DB, Guerrini, R, Glauser, T, Heinzen, EL, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Marson, AG, Mefford, HC, O'Brien, TJ, Ottman, R, Poduri, A, Petrou, S, Petrovski, S, Ruzzo, EK, Scheffer, IE, Sherr, EH, Abou-Khalil, B, Amrom, D, Andermann, E, Andermann, F, Bluvstein, J, Boro, A, Cascino, G, Consalvo, D, Crumrine, P, Devinsky, O, Fountain, N, Friedman, D, Geller, E, Glynn, S, Haas, K, Haut, S, Joshi, S, Kirsch, H, Knowlton, R, Kossoff, E, Motika, PV, Paolicchi, JM, Parent, JM, Shellhaas, RA, Shih, JJ, Shinnar, S, Singh, RK, Sperling, M, Smith, MC, Sullivan, J, Vining, EPG, Von Allmen, GK, Widdess-Walsh, P, Winawer, MR, Bautista, J, Fiol, M, Hayward, J, Helmers, S, Park, K, Sirven, J, Thio, LL, Venkat, A, Weisenberg, J, Kuperman, R, McGuire, S, Novotny, E, and Sadleir, L

Abstract

OBJECTIVE: We sought to identify novel genes and to establish the contribution of known genes in a large cohort of patients with nonsyndromic sporadic polymicrogyria and epilepsy. METHODS: We enrolled participants with polymicrogyria and their parents through the Epilepsy Phenome/Genome Project. We performed phenotyping and whole exome sequencing (WES), trio analysis, and gene-level collapsing analysis to identify de novo or inherited variants, including germline or mosaic (postzygotic) single nucleotide variants, small insertion-deletion (indel) variants, and copy number variants present in leukocyte-derived DNA. RESULTS: Across the cohort of 86 individuals with polymicrogyria and epilepsy, we identified seven with pathogenic or likely pathogenic variants in PIK3R2, including four germline and three mosaic variants. PIK3R2 was the only gene harboring more than expected de novo variants across the entire cohort, and likewise the only gene that passed the genome-wide threshold of significance in the gene-level rare variant collapsing analysis. Consistent with previous reports, the PIK3R2 phenotype consisted of bilateral polymicrogyria concentrated in the perisylvian region with macrocephaly. Beyond PIK3R2, we also identified one case each with likely causal de novo variants in CCND2 and DYNC1H1 and biallelic variants in WDR62, all genes previously associated with polymicrogyria. Candidate genetic explanations in this cohort included single nucleotide de novo variants in other epilepsy-associated and neurodevelopmental disease-associated genes (SCN2A in two individuals, GRIA3, CACNA1C) and a 597-kb deletion at 15q25, a neurodevelopmental disease susceptibility locus. SIGNIFICANCE: This study confirms germline and postzygotically acquired de novo variants in PIK3R2 as an important cause of bilateral perisylvian polymicrogyria, notably with macrocephaly. In total, trio-based WES identified a genetic diagnosis in 12% and a candidate diagnosis in 6% of our polymicrogyria

Published
2021

15. P.02.17 ACUTE LOWER GASTROINTESTINAL BLEEDING: PREDICTORS OF EARLY DISCHARGE

Author

Consalvo, D., primary, Granata, R., additional, De Leone, A., additional, Pietrini, L., additional, Orsini, L., additional, Menchise, A., additional, Martino, R., additional, Amitrano, L., additional, Guardascione, M., additional, Bennato, R., additional, Picascia, S., additional, Lombardi, G., additional, Manguso, F., additional, and Riccio, E., additional

Published
2019
Full Text
View/download PDF

16. ADVANCED ADENOMA IN SCREENING POPULATION AND LIFE STYLE HABITS: A CASE CONTROL STUDY

Author

Urban, F., Tonello, C., Paolini, A., Simeth, C., Consalvo, D., Fabro, M., Stefani, N., Sozzi, M., Monica, F., GIUDICI, FABIOLA, ZANCONATI, FABRIZIO, Urban, F., Giudici, Fabiola, Tonello, C., Paolini, A., Simeth, C., Consalvo, D., Fabro, M., Stefani, N., Sozzi, M., Zanconati, Fabrizio, and Monica, F.

Subjects
risk factor, colorectal cancer, adenoma
Abstract

Colorectal cancer (CRC) is the most frequent tumor in Italy. Friuli Venezia Giulia Region has higher CRC incidence than in population of Northern Italy (33 vs 21/100,000 men and 21 vs 12.1/100.00 females). Several risk factors may increase the chance of developing CRC. Aim of this study was to evaluate if lifestyle habits are linked to the development of advanced adenoma in screening population in Trieste area. Material and methods: In the present single centre, case-control observational study, 50-74 years old asymptomatic subjects participating in an organized CRC screening program based on immunologic fecal occult blood test and undergoing colonoscopy for positive test received a structured questionnaire investigating lifestyle habits. Patients with advanced adenoma were matched on age and sex with patients with negative colonoscopy (controls). Results: Since January to May 2015, 400 pts were recruited and data on 234 subjects (78 cases and 156 controls) were evaluated. Seven variables were selected for multivariate logistic regression analysis: daily intake of fresh fruit, daily 30’walking, units of alcohol consumption, daily intake of raw vegetables, smoking habits, low dose aspirin and vitamins per day. A protective role for the onset for advanced adenoma was found for the intake of fresh fruit (OR for ≥2 vs. 0-1 portions 0.28 CI 0.08-0.78 p=0.02) and daily walking (OR 30’ or more walking vs.

Published
2016

17. Evaluation of Clensia®, a new low-volume PEG bowel preparation in colonoscopy: Multicentre randomized controlled trial versus 4L PEG

Author

Spada, Cristiano, Cesaro, Paola, Bazzoli, F., Saracco, G. M., Cipolletta, L., Buri, L., Crosta, C., Petruzziello, Lucio, Ceroni, Liza, Fuccio, L., Giordanino, C., Elia, C., Rotondano, G., Bianco, M. A., Simeth, C., Consalvo, D., De Roberto, G., Fiori, G., Campanale, Mariachiara, Costamagna, Guido, Spada C. (ORCID:0000-0002-5692-0960), Cesaro P., Petruzziello L., Ceroni L., Campanale M., Costamagna G. (ORCID:0000-0002-8100-2731), Spada, Cristiano, Cesaro, Paola, Bazzoli, F., Saracco, G. M., Cipolletta, L., Buri, L., Crosta, C., Petruzziello, Lucio, Ceroni, Liza, Fuccio, L., Giordanino, C., Elia, C., Rotondano, G., Bianco, M. A., Simeth, C., Consalvo, D., De Roberto, G., Fiori, G., Campanale, Mariachiara, Costamagna, Guido, Spada C. (ORCID:0000-0002-5692-0960), Cesaro P., Petruzziello L., Ceroni L., Campanale M., and Costamagna G. (ORCID:0000-0002-8100-2731)

Abstract

Background Success of colonoscopy is linked to the adequacy of bowel cleansing. Polyethylene glycol 4 L (PEG 4 L) solutions are widely used for colonic cleansing but with limitations concerning tolerability and acceptability. Aim To demonstrate the equivalence of a new low-volume PEG containing citrates and simeticone (Clensia) versus a standard PEG 4 L. Methods In this, multicentre, randomised, observer-blind trial, patients received either Clensia 2 L or PEG 4 L solution. Primary endpoint was the proportion of patients with colon cleansing evaluated as excellent or good. Results 422 patients received Clensia (n = 213) or PEG 4 L (n = 209). Rate of excellent/good bowel cleansing was 73.6% and 72.3% in Clensia and PEG 4 L group respectively. Clensia was demonstrated to be equivalent to PEG 4 L. No SAEs were observed. Clensia showed better gastrointestinal tolerability (37.0% vs 25.4%). The acceptability was significantly better with Clensia in terms of proportion of subjects who felt no distress (Clensia 72.8% vs PEG 4 L 63%, P = 0.0314) and willingness-to-repeat (93.9% vs 82.2%, P = 0.0002). The rate of optimal compliance was similar with both formulations (91.1% for Clensia vs 90.9% for PEG 4 L, P = 0.9388). Conclusions The low-volume Clensia is equally effective and safe in bowel cleansing compared to the standard PEG 4 L, with better gastrointestinal tolerability and acceptability.

Published
2017

18. The intermolecular vibrations of Ar–styrene and Ar–4-fluorostyrene complexes.

Author

Consalvo, D., Avoird, A. van der, Piccirillo, S., Coreno, M., Giardini-Guidoni, A., Mele, A., and Snels, M.

Subjects
*VIBRATIONAL spectra, *MOLECULAR spectra, *ARGON, *STYRENE
Abstract

One-color (1+1) resonance enhanced multiphoton ionization (REMPI) spectra are reported for styrene–Arn clusters with n=2, 3, and for 4-fluorostyrene–Arn clusters with n=2–5. These spectra are compared with previously recorded spectra of the mono-Ar complexes and discussed in relation to the structures of the clusters. For the mono-Ar complexes we have performed practically exact quantum calculations of the van der Waals vibrational frequencies and properties, starting from two different empirical atom–atom potentials. The intermolecular potentials are strongly anharmonic and, due to the low symmetry of these dimers, we find considerable mode mixing. As a consequence of the kinematic coupling between the Ar motion and the internal rotation, the bending frequencies depend considerably on the different rotational constants of the molecules. The order of the fundamental frequencies is the same for both dimers. For Ar–4-fluorostyrene the calculated vibrational frequencies agree well with the observed spectrum; the van der Waals side bands can thus be assigned in detail. For Ar–styrene the observed frequencies are less well reproduced, so we must conclude that the atom–atom potential used is substantially better for Ar–fluorostyrene than for Ar–styrene. [ABSTRACT FROM AUTHOR]

Published
1993
Full Text
View/download PDF

24. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

Author

Abou-Khalil, B, Alldredge, BK, Allen, AS, Andermann, E, Andermann, F, Amrom, D, Bautista, JF, Berkovic, SF, Boro, A, Cascino, G, Coe, BP, Consalvo, D, Cook, J, Cossette, P, Crumrine, P, Delanty, N, Devinsky, O, Dlugos, D, Eichler, EE, Epstein, MP, Fiol, M, Fountain, NB, French, J, Friedman, D, Geller, EB, Glauser, T, Glynn, S, Goldstein, DB, Haut, SR, Hayward, J, Heinzen, EL, Helmers, SL, Johnson, MR, Joshi, S, Kanner, A, Kirsch, HE, Knowlton, RC, Kossoff, EH, Krumm, N, Kuperman, R, Kuzniecky, R, Lowenstein, DH, Marson, AG, McGuire, SM, Mefford, HC, Motika, PV, Nelson, B, Nieh, SE, Novotny, EJ, O'Brien, TJ, Ottman, R, Paolicchi, JM, Parent, J, Park, K, Petrou, S, Petrovski, S, Poduri, A, Raja, A, Ruzzo, EK, Scheffer, IE, Shellhaas, RA, Sherr, E, Shih, JJ, Singh, R, Sirven, J, Smith, MC, Sullivan, J, Liu, LT, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, Winawer, MR, Abou-Khalil, B, Alldredge, BK, Allen, AS, Andermann, E, Andermann, F, Amrom, D, Bautista, JF, Berkovic, SF, Boro, A, Cascino, G, Coe, BP, Consalvo, D, Cook, J, Cossette, P, Crumrine, P, Delanty, N, Devinsky, O, Dlugos, D, Eichler, EE, Epstein, MP, Fiol, M, Fountain, NB, French, J, Friedman, D, Geller, EB, Glauser, T, Glynn, S, Goldstein, DB, Haut, SR, Hayward, J, Heinzen, EL, Helmers, SL, Johnson, MR, Joshi, S, Kanner, A, Kirsch, HE, Knowlton, RC, Kossoff, EH, Krumm, N, Kuperman, R, Kuzniecky, R, Lowenstein, DH, Marson, AG, McGuire, SM, Mefford, HC, Motika, PV, Nelson, B, Nieh, SE, Novotny, EJ, O'Brien, TJ, Ottman, R, Paolicchi, JM, Parent, J, Park, K, Petrou, S, Petrovski, S, Poduri, A, Raja, A, Ruzzo, EK, Scheffer, IE, Shellhaas, RA, Sherr, E, Shih, JJ, Singh, R, Sirven, J, Smith, MC, Sullivan, J, Liu, LT, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, and Winawer, MR

Abstract

Infantile spasms (IS) and Lennox-Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 349 trios with IS or LGS to identify putative de novo CNVs. We confirm 18 de novo CNVs in 17 patients (4.8%), 10 of which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients. Confirmation of exome-predicted CNVs by array-based methods is still required due to false-positive rates of prediction algorithms. Our exome-based results are consistent with recent array-based studies in similar cohorts and highlight novel candidate genes for IS and LGS.

Published
2015

26. [Analysis of psychotic disorders in patients with refractory partial epilepsy, psychiatric diagnoses and clinical aspects]

Author

D'Alessio L, Giagante B, Ibarra V, Papayannis C, Silvia Andrea Oddo, Solís P, Consalvo D, Silva W, Donnoli V, Lm, Zieher, and Kochen S

Subjects
Adult, Male, Sclerosis, Psychotic Disorders, Refractory Period, Electrophysiological, Mental Disorders, Brain, Humans, Electroencephalography, Female, Epilepsies, Partial, Hippocampus
Abstract

The association between psychotic disorders and epilepsy has been controversial. Different subtypes of psychotic disorders in epilepsy patients have been described according to temporal relationship with seizures-postictal (PIP), interictal (IIP) and bimodal (BP) psychoses are described in literature.Determine clinical characteristics of patients with refractory partial epilepsy and psychoses and compare the results with a control group of patients with refractory partial epilepsy without psychoses.A total of 57 patients with refractory partial epilepsy and psychotic disorders (psychotic group [PG]) and 56 patients with refractory partial epilepsy and without psychoses (control group, CG) were evaluated according to DSM-IV criteria and SCID-I. All patients underwent complete neurological, neuroimaging, neuropsychological, and psychiatric assessment. Clinical, demographic and neuroimaging data were compared between patients in CG and PG.In PG 15 patients (26 %) had criteria for PIP, 29 patients (51%) for IIP and 13 patients (23%) for BP. Epilepsy time duration and bilateral hippocampal sclerosis were significantly more frequent in patients with psichosis. PG patients had a longer evolution time of epilepsy and greater frequency of bilateral hippocampal sclerosis (p0.05). No differences were found between psychoses subtypes.Longer evolution of seizures and the presence of bilateral hippocampal sclerosis may increase propensity to develop psychoses in patients with refractory partial epilepsy.

Published
2008

30. De novo mutations in epileptic encephalopathies

Author

Allen, AS, Berkovic, SF, Cossette, P, Delanty, N, Dlugos, D, Eichler, EE, Epstein, MP, Glauser, T, Goldstein, DB, Han, Y, Heinzen, EL, Hitomi, Y, Howell, KB, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Lu, Y-F, Madou, MRZ, Marson, AG, Mefford, HC, Nieh, SE, O'Brien, TJ, Ottman, R, Petrovski, S, Poduri, A, Ruzzo, EK, Scheffer, IE, Sherr, EH, Yuskaitis, CJ, Abou-Khalil, B, Alldredge, BK, Bautista, JF, Boro, A, Cascino, GD, Consalvo, D, Crumrine, P, Devinsky, O, Fiol, M, Fountain, NB, French, J, Friedman, D, Geller, EB, Glynn, S, Haut, SR, Hayward, J, Helmers, SL, Joshi, S, Kanner, A, Kirsch, HE, Knowlton, RC, Kossoff, E, Kuperman, R, McGuire, SM, Motika, PV, Novotny, EJ, Paolicchi, JM, Parent, JM, Park, K, Shellhaas, RA, Shih, JJ, Singh, R, Sirven, J, Smith, MC, Sullivan, J, Thio, LL, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, Winawer, MR, Allen, AS, Berkovic, SF, Cossette, P, Delanty, N, Dlugos, D, Eichler, EE, Epstein, MP, Glauser, T, Goldstein, DB, Han, Y, Heinzen, EL, Hitomi, Y, Howell, KB, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Lu, Y-F, Madou, MRZ, Marson, AG, Mefford, HC, Nieh, SE, O'Brien, TJ, Ottman, R, Petrovski, S, Poduri, A, Ruzzo, EK, Scheffer, IE, Sherr, EH, Yuskaitis, CJ, Abou-Khalil, B, Alldredge, BK, Bautista, JF, Boro, A, Cascino, GD, Consalvo, D, Crumrine, P, Devinsky, O, Fiol, M, Fountain, NB, French, J, Friedman, D, Geller, EB, Glynn, S, Haut, SR, Hayward, J, Helmers, SL, Joshi, S, Kanner, A, Kirsch, HE, Knowlton, RC, Kossoff, E, Kuperman, R, McGuire, SM, Motika, PV, Novotny, EJ, Paolicchi, JM, Parent, JM, Park, K, Shellhaas, RA, Shih, JJ, Singh, R, Sirven, J, Smith, MC, Sullivan, J, Thio, LL, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, and Winawer, MR

Abstract

Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A likelihood analysis showed a significant excess of de novo mutations in the ∼4,000 genes that are the most intolerant to functional genetic variation in the human population (P = 2.9 × 10(-3)). Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy. Given the relevant site-specific mutation rates, the probabilities of these outcomes occurring by chance are P = 4.1 × 10(-10) and P = 7.8 × 10(-12), respectively. Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L. Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein (P < 10(-8)), as has been reported previously for autism spectrum disorders.

Published
2013

31. Hemicorea asociada a toxoplasmosis cerebral y SIDA

Author

garretto, N.S., Bueri, J.A., Kremenchutzky, M., Consalvo, D., Segura, M., and Genovese, O.

Subjects
AIDS, hemicorea, SIDA (AIDS), toxoplasmosis cerebral, hemichorea, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, cerebral toxoplasmosis, lcsh:RC321-571
Abstract

Se observan complicaciones neurológicas en 40% de enfermos con SIDA. De estos, en 10% puede ser la manifestation inicial de la enfermedad. En otro 11% pueden aparecer trastornos del movimiento. Comunicamos el primer caso de hemicorea asociada a toxoplasmosis cerebral y SIDA en nuestro pais. Hombre de 26 anos, con diagnostico de SIDA y toxoplasmosis cerebral. Habia comenzado con crisis motoras simples de hemicuerpo izquierdo, con generalization secundaria y luego perdida de fuerza progresiva en dicho hemicuerpo. La RMN de cérebro mostro una lesion frontal derecha y otra temporo-occipital izquierda, con gran edema perilesional y efecto de masa. Las serologias para HIV y toxoplasmosis fueron positivas. Comenzo tratamiento con sulfadiazina y pirimetamina. Al duodecimo dia aparecieron movimientos involuntários dei pie izquierdo, coreicos, que se extendieron mas tarde a todo ese miembro inferior y luego al hemicuerpo. Nueva RMN de cérebro mostro disminucion dei edema y efecto de masa de las lesiones. Sin embargo, se observo una nueva lesion a nivel peduncular derecho. Movimientos involuntarios en pacientes con toxoplasmosis cerebral comenzaron a describirse recientemente solo en pacientes con SIDA. El presente seria el decimotercer caso de la literatura mundial y el primero en nuestro pais de hemicorea asociada a toxoplasmosis y SIDA. Only 12 AIDS cases with hemichorea were reported in the literature. We report the first case of hemichorea associated with AIDS and cerebral toxoplasmosis in our country. A 26-year-old man had 3 episodes of focal seizures on the left side with subsequent loss of consciousness. A few weeks later, he noticed progressive left-sided weakness. Examination revealed a left hemiparesis. MRI of the head showed a round mass in the right frontal lobe and a smaller lesion in the left temporo-occipital area. Laboratory showed positive serum ELISA and Western Blot analysis for HIV antibodies. Serum tests for Toxoplasma showed elevated titers. He was treated with pyrimethamine and sulfadiazine. His weakness improved and he had no further seizures. Two weeks later, choreic movements appeared in the left foot, finally involving the entire left hemibody. A second MRI showed a new small lesion in the right cerebral peduncle. The patient completed 6 weeks of treatment, with further reduction in the size of the lesions. Nevertheless, the left hemichorea persisted. We believe that the hemichorea our patient had was caused by the contralateral peduncular lesion. Lesions involving the subthalamic nucleus or its connections may cause contralateral hemiballismus or hemichorea. In spite of the favorable response to antitoxoplasmic therapy, the hemichorea persisted. The present report illustrates an uncommon neurological complication in AIDS. We believe that a combination of a focal cerebral lesion and the HIV infection caused the movement disorder presented by the patient.

Published
1995

32. P.1.21: EVALUATION OF A NEW REDUCED VOLUME BOWEL PREPARATION BEFORE COLONOSCOPY

Author

Cesaro, P., primary, Petruzziello, L., additional, Spada, C., additional, Bazzoli, F., additional, Ceroni, L., additional, Saracco, G.M., additional, Giordanino, C., additional, Elia, C., additional, Cipolletta, L., additional, Rotondano, G., additional, Salerno, R., additional, Buri, L., additional, Simeth, C., additional, Consalvo, D., additional, Crosta, C., additional, De Roberto, G., additional, Fiori, G., additional, and Costamagna, G., additional

Published
2011
Full Text
View/download PDF

43. Internal motion of two-top molecules: propane and dimethylamine

Author

Engeln, R., Reuss, J., Consalvo, D., Avoird, A. van der, Bladel, J.W.I. van, Engeln, R., Reuss, J., Consalvo, D., Avoird, A. van der, and Bladel, J.W.I. van

Abstract

Contains fulltext : 6971.pdf (publisher's version ) (Open Access)

Published
1990

49. 4-17-15 Magnetic resonance findings in epileptic patients

Author

Consalvo, D., primary, Silva, W., additional, Rugilo, C., additional, Salgado, P., additional, Centurión, E., additional, Saidón, P., additional, Albarenque, M., additional, Giobellina, R., additional, Schuster, G., additional, and Kochen, S., additional

Published
1997
Full Text
View/download PDF

50. 3-17-04 Mesial temporal sclerosis syndrome

Author

Consalvo, D., primary, Giobellina, R., additional, Silva, W., additional, Rugilo, C., additional, Saidón, P., additional, Centurión, E., additional, Schuster, G., additional, and Kochen, S., additional

Published
1997
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results