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1. The Sac Evolution Imaging Follow-Up after EVAR: an international expert opinion-based Delphi consensus study

Author

Tinelli, G, D'Oria, M, Sica, S, Mani, K, Rancic, Z, Resch, T, Beccia, F, Azizzadeh, A, Da Volta Ferreira, M, Gargiulo, M, Lepidi, S, Tshomba, Y, Oderich, G, Haulon, S, Beck, A, Hertault, A, Savlania, A, Froio, A, Giaquinta, A, Zimmermann, A, Psyllas, A, Wanhainen, A, Marchetti, A, Queiroz, A, Kahlberg, A, Reyes-Valdivia, A, Schanzer, A, Tambyraja, A, Freyrie, A, Lorido, A, Millon, A, Ippoliti, A, Abai, B, Mees, B, Reutersberg, B, Maurel, B, Michel, B, Wahlgren, C, Cavazzini, C, Setacci, C, Lee, C, Ferrer, C, Bicknell, C, Raphael, C, Clair, D, Dawson, D, Arnaoutakis, D, Bockler, D, Kotelis, D, Mujagic, E, Chisci, E, Cieri, E, Gallitto, E, Marone, E, Ducasse, E, Verzini, F, Pecoraro, F, Serracino-Inglott, F, Benedetto, F, Speziale, F, Stilo, F, Alvarez-Marcos, F, Pagliariccio, G, Piffaretti, G, Lanza, G, Philipp, G, Geenberg, G, Jung, G, Melissano, G, Veraldi, G, Parlani, G, Faggioli, G, de Donato, G, Simonte, G, Colacchio, G, De Caridi, G, Pratesi, G, Spinella, G, Torsello, G, Leong Tan, G, Magee, G, Verhagen, H, Andrew, H, Koleilat, I, Ohman, J, de Vries, J, Budtz-Lilly, J, Black, J, Eldrup-Jorgensen, J, Hockley, J, Bath, J, Sobocinski, J, van Herwaarden, J, Reinhard, K, Orion, K, Amankwah, K, Bertoglio, L, di Marzo, L, Garriboli, L, Rizzo, L, Hakimi, M, Sheahan, M, Khashram, M, Schermerhorn, M, Lescan, M, Conrad, M, Davies, M, Czerny, M, Orrico, M, Eagleton, M, Smeds, M, Taurino, M, Wohlauer, M, Sharafuddin, M, Anna-Leonie, M, Reijnen, M, Antonello, M, Piazza, M, Settembre, N, Mouawad, N, Tsilimparis, N, Dias, N, Martinelli, O, Frigatti, P, Sirignano, P, Chong, P, Bevis, P, Dimuzio, P, Henke, P, Duppers, P, Holt, P, Helmio, P, Vriens, P, Pulli, R, Bellosta, R, Micheli, R, Veeraswamy, R, Cuff, R, Chiappa, R, Gattuso, R, Pini, R, Dalman, R, Milner, R, Scali, S, Bahia, S, Laukontaus, S, Trimarchi, S, Fernandez-Alonso, S, Deglise, S, Bellmunt-Montoya, S, Hofer, S, Yusuf, S, Ronchey, S, Bartoli, S, Bonvini, S, Camparini, S, Fazzini, S, Pirrelli, S, Horer, T, Bisdas, T, Vasudevan, T, Lattmann, T, Wyss, T, Maldonado, T, Pfammatter, T, Kolbel, T, Jakimowicz, T, Donati, T, Tracci, M, Bracale, U, Tolva, V, Riambau, V, Palazzo, V, Makaloski, V, Von Allmen, R, Dorigo, W, Mansour, W, Van den Eynde, W, Tinelli G., D'Oria M., Sica S., Mani K., Rancic Z., Resch T. A., Beccia F., Azizzadeh A., Da Volta Ferreira M. M., Gargiulo M., Lepidi S., Tshomba Y., Oderich G. S., Haulon S., Beck A. W., Hertault A., Savlania A., Froio A., Giaquinta A., Zimmermann A., Psyllas A., Wanhainen A., Marchetti A. A., Queiroz A. B., Kahlberg A., Reyes-Valdivia A., Schanzer A., Tambyraja A., Freyrie A., Lorido A., Millon A., Ippoliti A., Abai B., Mees B., Reutersberg B., Maurel B., Michel B., Wahlgren C. M., Cavazzini C., Setacci C., Lee C. J., Ferrer C., Bicknell C., Raphael C., Clair D., Dawson D. L., Arnaoutakis D. J., Bockler D., Kotelis D., Mujagic E., Chisci E., Cieri E., Gallitto E., Marone E. M., Ducasse E., Verzini F., Pecoraro F., Serracino-Inglott F., Benedetto F., Speziale F., Stilo F., Alvarez-Marcos F., Pagliariccio G., Piffaretti G., Lanza G., Philipp G., Geenberg G., Jung G., Melissano G., Veraldi G. F., Parlani G., Faggioli G., de Donato G., Simonte G., Colacchio G., De Caridi G., Pratesi G., Spinella G., Torsello G., Leong Tan G. W., Magee G. A., Verhagen H., Andrew H., Koleilat I., Ohman J. W., de Vries J. P. P. M., Budtz-Lilly J., Black J., Eldrup-Jorgensen J., Hockley J., Bath J., Sobocinski J., van Herwaarden J. A., Reinhard K., Orion K. C., Amankwah K., Bertoglio L., di Marzo L., Garriboli L., Rizzo L., Hakimi M., Sheahan M., Khashram M., Schermerhorn M., Lescan M., Conrad M., Davies M. G., Czerny M., Orrico M., Eagleton M. J., Smeds M. R., Taurino M., Wohlauer M., Sharafuddin M. J., Anna-Leonie M., Reijnen M., Antonello M., Piazza M., Settembre N., Mouawad N. J., Tsilimparis N., Dias N., Martinelli O., Frigatti P., Sirignano P., Chong P., Bevis P., DiMuzio P., Henke P., Duppers P., Holt P., Helmio P., Vriens P., Pulli R., Bellosta R., Micheli R., Veeraswamy R., Cuff R., Chiappa R., Gattuso R., Pini R., Dalman R. L., Milner R., Scali S. T., Bahia S., Laukontaus S., Trimarchi S., Fernandez-Alonso S., Deglise S., Bellmunt-Montoya S., Hofer S., Yusuf S. W., Ronchey S., Bartoli S., Bonvini S., Camparini S., Fazzini S., Pirrelli S., Horer T., Bisdas T., Vasudevan T., Lattmann T., Wyss T. R., Maldonado T., Pfammatter T., Kolbel T., Jakimowicz T., Donati T., Tracci M., Bracale U. M., Tolva V. S., Riambau V., Palazzo V., Makaloski V., Von Allmen R. S., Dorigo W., Mansour W., Van den Eynde W., Tinelli, G, D'Oria, M, Sica, S, Mani, K, Rancic, Z, Resch, T, Beccia, F, Azizzadeh, A, Da Volta Ferreira, M, Gargiulo, M, Lepidi, S, Tshomba, Y, Oderich, G, Haulon, S, Beck, A, Hertault, A, Savlania, A, Froio, A, Giaquinta, A, Zimmermann, A, Psyllas, A, Wanhainen, A, Marchetti, A, Queiroz, A, Kahlberg, A, Reyes-Valdivia, A, Schanzer, A, Tambyraja, A, Freyrie, A, Lorido, A, Millon, A, Ippoliti, A, Abai, B, Mees, B, Reutersberg, B, Maurel, B, Michel, B, Wahlgren, C, Cavazzini, C, Setacci, C, Lee, C, Ferrer, C, Bicknell, C, Raphael, C, Clair, D, Dawson, D, Arnaoutakis, D, Bockler, D, Kotelis, D, Mujagic, E, Chisci, E, Cieri, E, Gallitto, E, Marone, E, Ducasse, E, Verzini, F, Pecoraro, F, Serracino-Inglott, F, Benedetto, F, Speziale, F, Stilo, F, Alvarez-Marcos, F, Pagliariccio, G, Piffaretti, G, Lanza, G, Philipp, G, Geenberg, G, Jung, G, Melissano, G, Veraldi, G, Parlani, G, Faggioli, G, de Donato, G, Simonte, G, Colacchio, G, De Caridi, G, Pratesi, G, Spinella, G, Torsello, G, Leong Tan, G, Magee, G, Verhagen, H, Andrew, H, Koleilat, I, Ohman, J, de Vries, J, Budtz-Lilly, J, Black, J, Eldrup-Jorgensen, J, Hockley, J, Bath, J, Sobocinski, J, van Herwaarden, J, Reinhard, K, Orion, K, Amankwah, K, Bertoglio, L, di Marzo, L, Garriboli, L, Rizzo, L, Hakimi, M, Sheahan, M, Khashram, M, Schermerhorn, M, Lescan, M, Conrad, M, Davies, M, Czerny, M, Orrico, M, Eagleton, M, Smeds, M, Taurino, M, Wohlauer, M, Sharafuddin, M, Anna-Leonie, M, Reijnen, M, Antonello, M, Piazza, M, Settembre, N, Mouawad, N, Tsilimparis, N, Dias, N, Martinelli, O, Frigatti, P, Sirignano, P, Chong, P, Bevis, P, Dimuzio, P, Henke, P, Duppers, P, Holt, P, Helmio, P, Vriens, P, Pulli, R, Bellosta, R, Micheli, R, Veeraswamy, R, Cuff, R, Chiappa, R, Gattuso, R, Pini, R, Dalman, R, Milner, R, Scali, S, Bahia, S, Laukontaus, S, Trimarchi, S, Fernandez-Alonso, S, Deglise, S, Bellmunt-Montoya, S, Hofer, S, Yusuf, S, Ronchey, S, Bartoli, S, Bonvini, S, Camparini, S, Fazzini, S, Pirrelli, S, Horer, T, Bisdas, T, Vasudevan, T, Lattmann, T, Wyss, T, Maldonado, T, Pfammatter, T, Kolbel, T, Jakimowicz, T, Donati, T, Tracci, M, Bracale, U, Tolva, V, Riambau, V, Palazzo, V, Makaloski, V, Von Allmen, R, Dorigo, W, Mansour, W, Van den Eynde, W, Tinelli G., D'Oria M., Sica S., Mani K., Rancic Z., Resch T. A., Beccia F., Azizzadeh A., Da Volta Ferreira M. M., Gargiulo M., Lepidi S., Tshomba Y., Oderich G. S., Haulon S., Beck A. W., Hertault A., Savlania A., Froio A., Giaquinta A., Zimmermann A., Psyllas A., Wanhainen A., Marchetti A. A., Queiroz A. B., Kahlberg A., Reyes-Valdivia A., Schanzer A., Tambyraja A., Freyrie A., Lorido A., Millon A., Ippoliti A., Abai B., Mees B., Reutersberg B., Maurel B., Michel B., Wahlgren C. M., Cavazzini C., Setacci C., Lee C. J., Ferrer C., Bicknell C., Raphael C., Clair D., Dawson D. L., Arnaoutakis D. J., Bockler D., Kotelis D., Mujagic E., Chisci E., Cieri E., Gallitto E., Marone E. M., Ducasse E., Verzini F., Pecoraro F., Serracino-Inglott F., Benedetto F., Speziale F., Stilo F., Alvarez-Marcos F., Pagliariccio G., Piffaretti G., Lanza G., Philipp G., Geenberg G., Jung G., Melissano G., Veraldi G. F., Parlani G., Faggioli G., de Donato G., Simonte G., Colacchio G., De Caridi G., Pratesi G., Spinella G., Torsello G., Leong Tan G. W., Magee G. A., Verhagen H., Andrew H., Koleilat I., Ohman J. W., de Vries J. P. P. M., Budtz-Lilly J., Black J., Eldrup-Jorgensen J., Hockley J., Bath J., Sobocinski J., van Herwaarden J. A., Reinhard K., Orion K. C., Amankwah K., Bertoglio L., di Marzo L., Garriboli L., Rizzo L., Hakimi M., Sheahan M., Khashram M., Schermerhorn M., Lescan M., Conrad M., Davies M. G., Czerny M., Orrico M., Eagleton M. J., Smeds M. R., Taurino M., Wohlauer M., Sharafuddin M. J., Anna-Leonie M., Reijnen M., Antonello M., Piazza M., Settembre N., Mouawad N. J., Tsilimparis N., Dias N., Martinelli O., Frigatti P., Sirignano P., Chong P., Bevis P., DiMuzio P., Henke P., Duppers P., Holt P., Helmio P., Vriens P., Pulli R., Bellosta R., Micheli R., Veeraswamy R., Cuff R., Chiappa R., Gattuso R., Pini R., Dalman R. L., Milner R., Scali S. T., Bahia S., Laukontaus S., Trimarchi S., Fernandez-Alonso S., Deglise S., Bellmunt-Montoya S., Hofer S., Yusuf S. W., Ronchey S., Bartoli S., Bonvini S., Camparini S., Fazzini S., Pirrelli S., Horer T., Bisdas T., Vasudevan T., Lattmann T., Wyss T. R., Maldonado T., Pfammatter T., Kolbel T., Jakimowicz T., Donati T., Tracci M., Bracale U. M., Tolva V. S., Riambau V., Palazzo V., Makaloski V., Von Allmen R. S., Dorigo W., Mansour W., and Van den Eynde W.

Abstract

Objective: Management of follow-up protocols after endovascular aortic repair (EVAR) varies significantly between centers and is not standardized according to sac regression. By designing an international expert-based Delphi consensus, the study aimed to create recommendations on follow-up after EVAR according to sac evolution. Methods: Eight facilitators created appropriate statements regarding the study topic that were voted, using a 4-point Likert scale, by a selected panel of international experts using a three-round modified Delphi consensus process. Based on the experts' responses, only those statements reaching a grade A (full agreement ≥75%) or B (overall agreement ≥80% and full disagreement <5%) were included in the final document. Results: One-hundred and seventy-four participants were included in the final analysis, and each voted the initial 29 statements related to the definition of sac regression (Q1-Q9), EVAR follow-up (Q10-Q14), and the assessment and role of sac regression during follow-up (Q15-Q29). At the end of the process, 2 statements (6.9%) were rejected, 9 statements (31%) received a grade B consensus strength, and 18 (62.1%) reached a grade A consensus strength. Of 27 final statements, 15 (55.6%) were classified as grade I, whereas 12 (44.4%) were classified as grade II. Experts agreed that sac regression should be considered an important indicator of EVAR success and always be assessed during follow-up after EVAR. Conclusions: Based on the elevated strength and high consistency of this international expert-based Delphi consensus, most of the statements might guide the current clinical management of follow-up after EVAR according to the sac regression. Future studies are needed to clarify debated issues.

Published
2024

3. The relationship between uremic toxins and symptoms in older men and women with advanced chronic kidney disease

Author

Massy Z. A., Chesnaye N. C., Larabi I. A., Dekker F. W., Evans M., Caskey F. J., Torino C., Porto G., Szymczak M., Drechsler C., Wanner C., Jager K. J., Alvarez J. C., Schneider A., Torp A., Iwig B., Perras B., Marx C., Blaser C., Emde C., Krieter D., Fuchs D., Irmler E., Platen E., Schmidt-Gurtler H., Schlee H., Naujoks H., Schlee I., Casar S., Beige J., Rothele J., Mazur J., Hahn K., Blouin K., Neumeier K., Anding-Rost K., Schramm L., Hopf M., Wuttke N., Frischmuth N., Ichtiaris P., Kirste P., Schulz P., Aign S., Biribauer S., Manan S., Roser S., Heidenreich S., Palm S., Schwedler S., Delrieux S., Renker S., Schattel S., Stephan T., Schmiedeke T., Weinreich T., Leimbach T., Stovesand T., Bahner U., Seeger W., Cupisti A., Sagliocca A., Ferraro A., Mele A., Naticchia A., Cosaro A., Ranghino A., Stucchi A., Pignataro A., De Blasio A., Pani A., Tsalouichos A., Bellasi A., Raffaele Di Iorio B., Butti A., Abaterusso C., Somma C., D'Alessandro C., Zullo C., Pozzi C., Bergamo D., Ciurlino D., Motta D., Russo D., Favaro E., Vigotti F., Ansali F., Conte F., Cianciotta F., Giacchino F., Cappellaio F., Pizzarelli F., Greco G., Bigatti G., Marinangeli G., Cabiddu G., Fumagalli G., Caloro G., Piccoli G., Capasso G., Gambaro G., Tognarelli G., Bonforte G., Conte G., Toscano G., Del Rosso G., Capizzi I., Baragetti I., Oldrizzi L., Gesualdo L., Biancone L., Magnano M., Ricardi M., Di Bari M., Laudato M., Luisa Sirico M., Ferraresi M., Provenzano M., Malaguti M., Palmieri N., Murrone P., Cirillo P., Dattolo P., Acampora P., Nigro R., Boero R., Scarpioni R., Sicoli R., Malandra R., Savoldi S., Bertoli S., Borrelli S., Maxia S., Maffei S., Mangano S., Cicchetti T., Rappa T., Palazzo V., De Simone W., Schrander A., Van Dam B., Siegert C., Gaillard C., Beerenhout C., Verburgh C., Janmaat C., Hoogeveen E., Hoorn E., Boots J., Boom H., Eijgenraam J. -W., Kooman J., Rotmans J., Vogt L., Raasveld M., Vervloet M., Van Buren M., Van Diepen M., Leurs P., Voskamp P., Blankestijn P., Van Esch S., Boorsma S., Berger S., Konings C., Aydin Z., Musiala A., Szymczak A., Olczyk E., Augustyniak-Bartosik H., Miskowiec-Wisniewska I., Manitius J., Pondel J., Jedrzejak K., Nowanska K., Nowak L., Durlik M., Dorota S., Nieszporek T., Heleniak Z., Jonsson A., Blom A. -L., Rogland B., Wallquist C., Vargas D., Dimeny E., Sundelin F., Uhlin F., Welander G., Bascaran Hernandez I., Grontoft K. -C., Stendahl M., Svensson M., Heimburger O., Kashioulis P., Melander S., Almquist T., Jensen U., Woodman A., McKeever A., Ullah A., McLaren B., Harron C., Barrett C., O'Toole C., Summersgill C., Geddes C., Glowski D., McGlynn D., Sands D., Roy G., Hirst G., King H., McNally H., Masri-Senghor H., Murtagh H., Rayner H., Turner J., Wilcox J., Berdeprado J., Wong J., Banda J., Jones K., Haydock L., Wilkinson L., Carmody M., Weetman M., Joinson M., Dutton M., Matthews M., Morgan N., Bleakley N., Cockwell P., Roderick P., Mason P., Kalra P., Sajith R., Chapman S., Navjee S., Crosbie S., Brown S., Tickle S., Mathavakkannan S., Kuan Y., Massy, Z. A., Chesnaye, N. C., Larabi, I. A., Dekker, F. W., Evans, M., Caskey, F. J., Torino, C., Porto, G., Szymczak, M., Drechsler, C., Wanner, C., Jager, K. J., Alvarez, J. C., Schneider, A., Torp, A., Iwig, B., Perras, B., Marx, C., Blaser, C., Emde, C., Krieter, D., Fuchs, D., Irmler, E., Platen, E., Schmidt-Gurtler, H., Schlee, H., Naujoks, H., Schlee, I., Casar, S., Beige, J., Rothele, J., Mazur, J., Hahn, K., Blouin, K., Neumeier, K., Anding-Rost, K., Schramm, L., Hopf, M., Wuttke, N., Frischmuth, N., Ichtiaris, P., Kirste, P., Schulz, P., Aign, S., Biribauer, S., Manan, S., Roser, S., Heidenreich, S., Palm, S., Schwedler, S., Delrieux, S., Renker, S., Schattel, S., Stephan, T., Schmiedeke, T., Weinreich, T., Leimbach, T., Stovesand, T., Bahner, U., Seeger, W., Cupisti, A., Sagliocca, A., Ferraro, A., Mele, A., Naticchia, A., Cosaro, A., Ranghino, A., Stucchi, A., Pignataro, A., De Blasio, A., Pani, A., Tsalouichos, A., Bellasi, A., Raffaele Di Iorio, B., Butti, A., Abaterusso, C., Somma, C., D'Alessandro, C., Zullo, C., Pozzi, C., Bergamo, D., Ciurlino, D., Motta, D., Russo, D., Favaro, E., Vigotti, F., Ansali, F., Conte, F., Cianciotta, F., Giacchino, F., Cappellaio, F., Pizzarelli, F., Greco, G., Bigatti, G., Marinangeli, G., Cabiddu, G., Fumagalli, G., Caloro, G., Piccoli, G., Capasso, G., Gambaro, G., Tognarelli, G., Bonforte, G., Conte, G., Toscano, G., Del Rosso, G., Capizzi, I., Baragetti, I., Oldrizzi, L., Gesualdo, L., Biancone, L., Magnano, M., Ricardi, M., Di Bari, M., Laudato, M., Luisa Sirico, M., Ferraresi, M., Provenzano, M., Malaguti, M., Palmieri, N., Murrone, P., Cirillo, P., Dattolo, P., Acampora, P., Nigro, R., Boero, R., Scarpioni, R., Sicoli, R., Malandra, R., Savoldi, S., Bertoli, S., Borrelli, S., Maxia, S., Maffei, S., Mangano, S., Cicchetti, T., Rappa, T., Palazzo, V., De Simone, W., Schrander, A., Van Dam, B., Siegert, C., Gaillard, C., Beerenhout, C., Verburgh, C., Janmaat, C., Hoogeveen, E., Hoorn, E., Boots, J., Boom, H., Eijgenraam, J. -W., Kooman, J., Rotmans, J., Vogt, L., Raasveld, M., Vervloet, M., Van Buren, M., Van Diepen, M., Leurs, P., Voskamp, P., Blankestijn, P., Van Esch, S., Boorsma, S., Berger, S., Konings, C., Aydin, Z., Musiala, A., Szymczak, A., Olczyk, E., Augustyniak-Bartosik, H., Miskowiec-Wisniewska, I., Manitius, J., Pondel, J., Jedrzejak, K., Nowanska, K., Nowak, L., Durlik, M., Dorota, S., Nieszporek, T., Heleniak, Z., Jonsson, A., Blom, A. -L., Rogland, B., Wallquist, C., Vargas, D., Dimeny, E., Sundelin, F., Uhlin, F., Welander, G., Bascaran Hernandez, I., Grontoft, K. -C., Stendahl, M., Svensson, M., Heimburger, O., Kashioulis, P., Melander, S., Almquist, T., Jensen, U., Woodman, A., Mckeever, A., Ullah, A., Mclaren, B., Harron, C., Barrett, C., O'Toole, C., Summersgill, C., Geddes, C., Glowski, D., Mcglynn, D., Sands, D., Roy, G., Hirst, G., King, H., Mcnally, H., Masri-Senghor, H., Murtagh, H., Rayner, H., Turner, J., Wilcox, J., Berdeprado, J., Wong, J., Banda, J., Jones, K., Haydock, L., Wilkinson, L., Carmody, M., Weetman, M., Joinson, M., Dutton, M., Matthews, M., Morgan, N., Bleakley, N., Cockwell, P., Roderick, P., Mason, P., Kalra, P., Sajith, R., Chapman, S., Navjee, S., Crosbie, S., Brown, S., Tickle, S., Mathavakkannan, S., Kuan, Y., Nephrology, ACS - Diabetes & metabolism, Medical Informatics, APH - Methodology, APH - Aging & Later Life, APH - Quality of Care, APH - Global Health, APH - Health Behaviors & Chronic Diseases, and ACS - Pulmonary hypertension & thrombosis

Subjects
Transplantation, Nephrology, uremic toxins, CKD, symptoms, symptom, elderly
Abstract

Background Patients with stage 4/5 chronic kidney disease (CKD) suffer from various symptoms. The retention of uremic solutes is thought to be associated with those symptoms. However, there are relatively few rigorous studies on the potential links between uremic toxins and symptoms in patients with CKD. Methods The EQUAL study is an ongoing observational cohort study of non-dialyzed patients with stage 4/5 CKD. EQUAL patients from Germany, Poland, Sweden and the UK were included in the present study (n = 795). Data and symptom self-report questionnaires were collected between April 2012 and September 2020. Baseline uric acid and parathyroid hormone and 10 uremic toxins were quantified. We tested the association between uremic toxins and symptoms and adjusted P-values for multiple testing. Results Symptoms were more frequent in women than in men with stage 4/5 CKD, while levels of various uremic toxins were higher in men. Only trimethylamine N-oxide (TMAO; positive association with fatigue), p-cresyl sulfate (PCS) with constipation and 3-carboxy-4-methyl-5-propyl-2-furanpropionic acid (negative association with shortness of breath) demonstrated moderately strong associations with symptoms in adjusted analyses. The association of phenylacetylglutamine with shortness of breath was consistent in both sexes, although it only reached statistical significance in the full population. In contrast, TMAO (fatigue) and PCS and phenylacetylglutamine (constipation) were only associated with symptoms in men, who presented higher serum levels than women. Conclusion Only a limited number of toxins were associated with symptoms in persons with stage 4/5 CKD. Other uremic toxins, uremia-related factors or psychosocial factors not yet explored might contribute to symptom burden.

Published
2022

6. Implementation of the ERAS (Enhanced Recovery After Surgery) protocol for colorectal cancer surgery in the Piemonte Region with an Audit and Feedback approach: study protocol for a stepped wedge cluster randomised trial: a study of the EASY-NET project

Author

Pagano, E, Pellegrino, L, Rinaldi, F, Palazzo, V, Donati, D, Meineri, M, Palmisano, S, Rolfo, M, Bachini, I, Bertetto, O, Borghi, F, Ciccone, G, ERAS Colon-Rectum Piemonte study group members. ERAS Colon-Rectum Piemonte study group members: Site investigators: Federica Borromeo, Fabio Priora, Sergio Gentilli, Luca Portigliotti, Paolo Massucco, Marco Palisi, Felice Borghi, Luca Pellegrino, Maurizio De Giuli, Aridai Resendiz, Paola Bellomo, Silvia Marola, IRCCS Candiolo Alfredo Mellano, Dario Ribero, Roberto, Polastri, Andrea Muratore, Nicoletta Sveva Pipitone, Garino, Mauro, Ospedale Cardinal Massaia, Asti: Elisabetta Castagna, Pozzo, Gabriele, Ospedale Castelli, Verbania: Andrea Caneparo, Adriana Ginardi, Reggina Lagana, Monica Carrera, Stefania Muzio, Ospedale, Civile, Ivrea: Luca Panier Suffat, Ivan, Lettini, Alberto Kiss, Valentina Gentile, Roberto Saracco, Donatella Scaglione, Andrea Gattolin, Roberto Rimonda, Francesco Battafarano, Luigi Oragano, Luca Lorenzin, Carlo Palenzona, Carmine Gianfranco Di Somma, Eliana Giaminardi, Marco Calgaro, Marco Naddeo, Piero Cumbo, Emma Marchigiano, Francesca, Cravero, Amisano, Marco Francesco, Francesco, Lemut, Tiziana Viora, Luciano Bonaccorsi, Silvio Testa, Clemente De Rosa, Marco, Brunetti, Matteo, Gatti, Carlo Bima, Enrico Gibin, Quaglino, Francesco, Festa, Federico, Luca, Bonatti, Morino, Mario, Allaix, Marco Ettore, Paolo De Paolis, Ida Marina Raciti, Mauro, Santarelli, Gitana, Scozzari, Felice, Borghi, Donati, Danilo, Maurizio, Meineri, Palmisano, Sarah, Pellegrino, Luca, Ciccone, Giovannino, Rosalba, Galletti, Pagano, Eva, Sandrucci, Sergio, Ilaria, Bachini, Anna De Magistris, Barbara, Mitola, Paolo, Massucco, Alessio, Rizzo, Caironi, Pietro, Monica, Rolfo, Anna, Orlando, Bertetto, Oscar, Francesco, Brunetti, Corinna, Defilè, DIAS MARTINS, VITOR HUGO, Lisa, Giacometti, Papurello, Matteo, Fabio, Saccona, and Danila, Turco.

Subjects
medicine.medical_specialty, audit, Audit, Disease cluster, quality in health care, Feedback, 03 medical and health sciences, 0302 clinical medicine, Postoperative Complications, Medicine, Humans, Multicenter Studies as Topic, Duration (project management), Enhanced recovery after surgery, Pandemics, Randomized Controlled Trials as Topic, Protocol (science), business.industry, SARS-CoV-2, Incidence (epidemiology), COVID-19, General Medicine, Length of Stay, Colorectal surgery, Italy, Sample size determination, 030220 oncology & carcinogenesis, Emergency medicine, 030211 gastroenterology & hepatology, Surgery, colorectal surgery, business, Colorectal Neoplasms, Enhanced Recovery After Surgery
Abstract

IntroductionThe ERAS protocol (Enhanced Recovery After Surgery) is a multimodal pathway aimed to reduce surgical stress and to allow a rapid postoperative recovery. Application of the ERAS protocol to colorectal cancer surgery has been limited to a minority of hospitals in Italy. To promote the systematic adoption of ERAS in the entire regional hospital network in Piemonte an Audit and Feedback approach (A&F) has been adopted together with a cluster randomised trial to estimate the true impact of the protocol on a large, unselected population.MethodsA multicentre stepped wedge cluster randomised trial is designed for comparison between standard perioperative management and the management according to the ERAS protocol. The primary outcome is the length of hospital stay (LOS). Secondary outcomes are: incidence of postoperative complications, time to patients’ recovery, control of pain and patients’ satisfaction. With an A&F approach the adherence to the ERAS items is monitored through a dedicated area in the study web site. The study includes 28 surgical centres, stratified by activity volume and randomly divided into four groups. Each group is randomly assigned to a different activation period of the ERAS protocol. There are four activation periods, one every 3 months. However, the planned calendar and the total duration of the study have been extended by 6 months due to the COVID-19 pandemic.The expected sample size of about 2200 patients has a high statistical power (98%) to detect a reduction of LOS of 1 day and to estimate clinically meaningful changes in the other endpoints.Ethics and disseminationThe study protocol has been approved by the Ethical Committee of the coordinating centre and by all participating centres. Study results will be timely circulated within the hospital network and published in peer-reviewed journals.Trial registration numberNCT04037787.

Published
2021

10. Capecitabine with/without mitomycin C: results of a randomized phase II trial of second-line therapy in advanced biliary tract adenocarcinoma

Author

Cereda, S., primary, Milella, M., additional, Cordio, S., additional, Leone, F., additional, Aprile, G., additional, Galiano, A., additional, Mosconi, S., additional, Vasile, E., additional, Santini, D., additional, Belli, C., additional, Auriemma, A., additional, Novarino, A., additional, Vaccaro, V., additional, Martines, C., additional, Marino, D., additional, Lutrino, S. E., additional, Palazzo, V., additional, Reinach, B., additional, Aldrighetti, L., additional, and Reni, M., additional

Published
2015
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12. Computer-guided flapless surgery: immediately loaded implant-prosthetic rehabilitation

Author

Danza, M., ALESSANDRO QUARANTA, Palazzo, V., and Vozza, I.

Subjects
Jaw, Edentulous, Partially, Suture Techniques, Denture, Complete, Upper, Denture, Partial, Immediate, Mandible, Middle Aged, Models, Dental, Dental Implantation, Dental Prosthesis Design, Surgery, Computer-Assisted, Absorbable Implants, Maxilla, Denture, Complete, Immediate, Humans, Jaw, Edentulous, Computer Simulation, Female, Collagen, Dental Prosthesis, Implant-Supported
Abstract

The aim of this study was to show the operative procedure and the advantages coming from computer guided flapless surgery. This case report describes the use of stereolithographic surgiguides in order to insert 6 mandibular and 6 maxillary implants by a computer guided flapless surgery. These implants have been immediately loaded with cross arch screwed temporary prostheses. The definitive rehabilitation was realized with 2 fixed cross arch metal-ceramic prostheses that were cemented by AGC caps. The computer science technology allows to execute complex implant-prosthetic treatments in a shorter time, at low risk, with high esthetical and functional predictability and patient' satisfaction.

Published
2009

15. BRAVISSIMO: 12-month results from a large scale prospective trial.

Author

Bosiers, M, Deloose, K, Callaert, Julie, Maene, L, Beelen, R, Keirse, Marc M.J.N.C., Verbist, J., Peeters, P, Schroë, H, Lauwers, G, Lansink, W, Vanslembroeck, K, D'archambeau, O, Hendriks, John, Lauwers, P, Vermassen, Frank, Randon, Caren, Van Herzeele, I, De Ryck, Frederic F.D., De Letter, J, Lanckneus, M, Van Betsbrugge, M, Thomas, B, Deleersnijder, R, Vandekerkhof, J, Baeyens, I, Berghmans, Thierry, Buttiens, J, Van Den Brande, Paul, Debing, Erik, Rabbia, C, Ruffino, A, Tealdi, D, Nano, G, Stegher, S, Gasparini, D, Piccoli, G, Coppieters De Gibson, Arnold G., Silingardi, R, Cataldi, V, Paroni, G, Palazzo, V, Stella, A, Gargiulo, Miriam, Muccini, N, Nessi, F, Ferrero, E, Pratesi, C, Fargion, A, Chiesa, R, Marone, E, Bertoglio, L, Cremonesi, A, Dozza, L, Galzerano, G, De Donato, G, Setacci, C., Bosiers, M, Deloose, K, Callaert, Julie, Maene, L, Beelen, R, Keirse, Marc M.J.N.C., Verbist, J., Peeters, P, Schroë, H, Lauwers, G, Lansink, W, Vanslembroeck, K, D'archambeau, O, Hendriks, John, Lauwers, P, Vermassen, Frank, Randon, Caren, Van Herzeele, I, De Ryck, Frederic F.D., De Letter, J, Lanckneus, M, Van Betsbrugge, M, Thomas, B, Deleersnijder, R, Vandekerkhof, J, Baeyens, I, Berghmans, Thierry, Buttiens, J, Van Den Brande, Paul, Debing, Erik, Rabbia, C, Ruffino, A, Tealdi, D, Nano, G, Stegher, S, Gasparini, D, Piccoli, G, Coppieters De Gibson, Arnold G., Silingardi, R, Cataldi, V, Paroni, G, Palazzo, V, Stella, A, Gargiulo, Miriam, Muccini, N, Nessi, F, Ferrero, E, Pratesi, C, Fargion, A, Chiesa, R, Marone, E, Bertoglio, L, Cremonesi, A, Dozza, L, Galzerano, G, De Donato, G, and Setacci, C.

Abstract

The BRAVISSIMO study is a prospective, non-randomized, multi-center, multi-national, monitored trial, conducted at 12 hospitals in Belgium and 11 hospitals in Italy. This manuscript reports the findings up to the 12-month follow-up time point for both the TASC A&B cohort and the TASC C&D cohort. The primary endpoint of the study is primary patency at 12 months, defined as a target lesion without a hemodynamically significant stenosis on Duplex ultrasound (>50%, systolic velocity ratio no greater than 2.0) and without target lesion revascularization (TLR) within 12 months. Between July 2009 and September 2010, 190 patients with TASC A or TASC B aortoiliac lesions and 135 patients with TASC C or TASC D aortoiliac lesions were included. The demographic data were comparable for the TASC A/B cohort and the TASC C/D cohort. The number of claudicants was significantly higher in the TASC A/B cohort, The TASC C/D cohort contains more CLI patients. The primary patency rate for the total patient population was 93.1%. The primary patency rates at 12 months for the TASC A, B, C and D lesions were 94.0%, 96.5%, 91.3% and 90.2% respectively. No statistical significant difference was shown when comparing these groups. Our findings confirm that endovascular therapy, and more specifically primary stenting, is the preferred treatment for patients with TASC A, B, C and D aortoiliac lesions. We notice similar endovascular results compared to surgery, however without the invasive character of surgery., info:eu-repo/semantics/published

Published
2013

24. Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: A genome-wide copy number analysis

Author

Giunti, L., Buccoliero, A. M., Pantaleo, M., Lucchesi, M., Provenzano, A., Palazzo, V., Guarducci, S., Guidi, M., Genitori, L., Zuffardi, O., Sardi, I., and Sabrina Giglio

Subjects
Glioneuronal tumour with neuropil-like islands (GTNI), paediatric brain tumours, central nervous tumours (CNS), copy number variations (CNVs), SNP/CGH array, Database of Genomic Variants (DGV), mosaicism, amplification, common genomic alteration, variation of anaplastic astrocytoma

28. Predicting Kidney Failure, Cardiovascular Disease and Death in Advanced CKD Patients

Author

Chava L. Ramspek, Rosemarijn Boekee, Marie Evans, Olof Heimburger, Charlotte M. Snead, Fergus J. Caskey, Claudia Torino, Gaetana Porto, Maciej Szymczak, Magdalena Krajewska, Christiane Drechsler, Christoph Wanner, Nicholas C. Chesnaye, Kitty J. Jager, Friedo W. Dekker, Maarten G.J. Snoeijs, Joris I. Rotmans, Merel van Diepen, Adamasco Cupisti, Adelia Sagliocca, Alberto Ferraro, Aleksandra Musiała, Alessandra Mele, Alessandro Naticchia, Alex Còsaro, Alistair Woodman, Andrea Ranghino, Andrea Stucchi, Andreas Jonsson, Andreas Schneider, Angelo Pignataro, Anita Schrander, Anke Torp, Anna McKeever, Anna Szymczak, Anna-Lena Blom, Antonella De Blasio, Antonello Pani, Aris Tsalouichos, Asad Ullah, Barbara McLaren, Bastiaan van Dam, Beate Iwig, Bellasi Antonio, Biagio Raffaele Di Iorio, Björn Rogland, Boris Perras, Butti Alessandra, Camille Harron, Carin Wallquist, Carl Siegert, Carla Barrett, Carlo Gaillard, Carlo Garofalo, Cataldo Abaterusso, Charles Beerenhout, Charlotte O'Toole, Chiara Somma, Christian Marx, Christina Summersgill, Christof Blaser, Claudia D'alessandro, Claudia Emde, Claudia Zullo, Claudio Pozzi, Colin Geddes, Cornelis Verburgh, Daniela Bergamo, Daniele Ciurlino, Daria Motta, Deborah Glowski, Deborah McGlynn, Denes Vargas, Detlef Krieter, Domenico Russo, Dunja Fuchs, Dympna Sands, Ellen Hoogeveen, Ellen Irmler, Emöke Dimény, Enrico Favaro, Eva Platen, Ewelina Olczyk, Ewout Hoorn, Federica Vigotti, Ferruccio Ansali, Ferruccio Conte, Francesca Cianciotta, Francesca Giacchino, Francesco Cappellaio, Francesco Pizzarelli, Fredrik Sundelin, Fredrik Uhlin, Gaetano Greco, Geena Roy, Giada Bigatti, Giancarlo Marinangeli, Gianfranca Cabiddu, Gillian Hirst, Giordano Fumagalli, Giorgia Caloro, Giorgina Piccoli, Giovanbattista Capasso, Giovanni Gambaro, Giuliana Tognarelli, Giuseppe Bonforte, Giuseppe Conte, Giuseppe Toscano, Goffredo Del Rosso, Gunilla Welander, Hanna Augustyniak-Bartosik, Hans Boots, Hans Schmidt-Gürtler, Hayley King, Helen McNally, Hendrik Schlee, Henk Boom, Holger Naujoks, Houda Masri-Senghor, Hugh Murtagh, Hugh Rayner, Ilona Miśkowiec-Wiśniewska, Ines Schlee, Irene Capizzi, Isabel Bascaran Hernandez, Ivano Baragetti, Jacek Manitius, Jane Turner, Jan-Willem Eijgenraam, Jeroen Kooman, Joachim Beige, Joanna Pondel, Joanne Wilcox, Jocelyn Berdeprado, Jochen Röthele, Jonathan Wong, Joris Rotmans, Joyce Banda, Justyna Mazur, Kai Hahn, Kamila Jędrzejak, Katarzyna Nowańska, Katja Blouin, Katrin Neumeier, Kirsteen Jones, Kirsten Anding-Rost, Knut-Christian Gröntoft, Lamberto Oldrizzi, Lesley Haydock, Liffert Vogt, Lily Wilkinson, Loreto Gesualdo, Lothar Schramm, Luigi Biancone, Łukasz Nowak, Maarten Raasveld, Magdalena Durlik, Manuela Magnano, Marc Vervloet, Marco Ricardi, Margaret Carmody, Maria Di Bari, Maria Laudato, Maria Luisa Sirico, Maria Stendahl, Maria Svensson, Maria Weetman, Marjolijn van Buren, Martin Joinson, Martina Ferraresi, Mary Dutton, Michael Matthews, Michele Provenzano, Monika Hopf, Moreno Malaguti, Nadja Wuttke, Neal Morgan, Nicola Palmieri, Nikolaus Frischmuth, Nina Bleakley, Paola Murrone, Paul Cockwell, Paul Leurs, Paul Roderick, Pauline Voskamp, Pavlos Kashioulis, Pawlos Ichtiaris, Peter Blankestijn, Petra Kirste, Petra Schulz, Phil Mason, Philip Kalra, Pietro Cirillo, Pietro Dattolo, Pina Acampora, Rincy Sajith, Rita Nigro, Roberto Boero, Roberto Scarpioni, Rosa Sicoli, Rosella Malandra, Sabine Aign, Sabine Cäsar, Sadie van Esch, Sally Chapman, Sandra Biribauer, Santee Navjee, Sarah Crosbie, Sharon Brown, Sheila Tickle, Sherin Manan, Silke Röser, Silvana Savoldi, Silvio Bertoli, Silvio Borrelli, Siska Boorsma, Stefan Heidenreich, Stefan Melander, Stefania Maxia, Stefano Maffei, Stefano Mangano, Stephanie Palm, Stijn Konings, Suresh Mathavakkannan, Susanne Schwedler, Sylke Delrieux, Sylvia Renker, Sylvia Schättel, Szyszkowska Dorota, Teresa Cicchetti, Teresa Nieszporek, Theresa Stephan, Thomas Schmiedeke, Thomas Weinreich, Til Leimbach, Tiziana Rappa, Tora Almquist, Torsten Stövesand, Udo Bahner, Ulrika Jensen, Valentina Palazzo, Walter De Simone, Wolfgang Seeger, Ying Kuan, Zbigniew Heleniak, Zeynep Aydin, Vascular Surgery, MUMC+: MA Med Staf Spec Vaatchirurgie (9), RS: Carim - V03 Regenerative and reconstructive medicine vascular disease, Ramspek, C. L., Boekee, R., Evans, M., Heimburger, O., Snead, C. M., Caskey, F. J., Torino, C., Porto, G., Szymczak, M., Krajewska, M., Drechsler, C., Wanner, C., Chesnaye, N. C., Jager, K. J., Dekker, F. W., Snoeijs, M. G. J., Rotmans, J. I., van Diepen, M., Cupisti, A., Sagliocca, A., Ferraro, A., Musiala, A., Mele, A., Naticchia, A., Cosaro, A., Woodman, A., Ranghino, A., Stucchi, A., Jonsson, A., Schneider, A., Pignataro, A., Schrander, A., Torp, A., Mckeever, A., Szymczak, A., Blom, A. -L., De Blasio, A., Pani, A., Tsalouichos, A., Ullah, A., Mclaren, B., van Dam, B., Iwig, B., Antonio, B., Di Iorio, B. R., Rogland, B., Perras, B., Alessandra, B., Harron, C., Wallquist, C., Siegert, C., Barrett, C., Gaillard, C., Garofalo, C., Abaterusso, C., Beerenhout, C., O'Toole, C., Somma, C., Marx, C., Summersgill, C., Blaser, C., D'Alessandro, C., Emde, C., Zullo, C., Pozzi, C., Geddes, C., Verburgh, C., Bergamo, D., Ciurlino, D., Motta, D., Glowski, D., Mcglynn, D., Vargas, D., Krieter, D., Russo, D., Fuchs, D., Sands, D., Hoogeveen, E., Irmler, E., Dimeny, E., Favaro, E., Platen, E., Olczyk, E., Hoorn, E., Vigotti, F., Ansali, F., Conte, F., Cianciotta, F., Giacchino, F., Cappellaio, F., Pizzarelli, F., Sundelin, F., Uhlin, F., Greco, G., Roy, G., Bigatti, G., Marinangeli, G., Cabiddu, G., Hirst, G., Fumagalli, G., Caloro, G., Piccoli, G., Capasso, G., Gambaro, G., Tognarelli, G., Bonforte, G., Conte, G., Toscano, G., Del Rosso, G., Welander, G., Augustyniak-Bartosik, H., Boots, H., Schmidt-Gurtler, H., King, H., Mcnally, H., Schlee, H., Boom, H., Naujoks, H., Masri-Senghor, H., Murtagh, H., Rayner, H., Miskowiec-Wisniewska, I., Schlee, I., Capizzi, I., Hernandez, I. B., Baragetti, I., Manitius, J., Turner, J., Eijgenraam, J. -W., Kooman, J., Beige, J., Pondel, J., Wilcox, J., Berdeprado, J., Rothele, J., Wong, J., Rotmans, J., Banda, J., Mazur, J., Hahn, K., Jedrzejak, K., Nowanska, K., Blouin, K., Neumeier, K., Jones, K., Anding-Rost, K., Grontoft, K. -C., Oldrizzi, L., Haydock, L., Vogt, L., Wilkinson, L., Gesualdo, L., Schramm, L., Biancone, L., Nowak, L., Raasveld, M., Durlik, M., Magnano, M., Vervloet, M., Ricardi, M., Carmody, M., Di Bari, M., Laudato, M., Sirico, M. L., Stendahl, M., Svensson, M., Weetman, M., van Buren, M., Joinson, M., Ferraresi, M., Dutton, M., Matthews, M., Provenzano, M., Hopf, M., Malaguti, M., Wuttke, N., Morgan, N., Palmieri, N., Frischmuth, N., Bleakley, N., Murrone, P., Cockwell, P., Leurs, P., Roderick, P., Voskamp, P., Kashioulis, P., Ichtiaris, P., Blankestijn, P., Kirste, P., Schulz, P., Mason, P., Kalra, P., Cirillo, P., Dattolo, P., Acampora, P., Sajith, R., Nigro, R., Boero, R., Scarpioni, R., Sicoli, R., Malandra, R., Aign, S., Casar, S., van Esch, S., Chapman, S., Biribauer, S., Navjee, S., Crosbie, S., Brown, S., Tickle, S., Manan, S., Roser, S., Savoldi, S., Bertoli, S., Borrelli, S., Boorsma, S., Heidenreich, S., Melander, S., Maxia, S., Maffei, S., Mangano, S., Palm, S., Konings, S., Mathavakkannan, S., Schwedler, S., Delrieux, S., Renker, S., Schattel, S., Dorota, S., Cicchetti, T., Nieszporek, T., Stephan, T., Schmiedeke, T., Weinreich, T., Leimbach, T., Rappa, T., Almquist, T., Stovesand, T., Bahner, U., Jensen, U., Palazzo, V., De Simone, W., Seeger, W., Kuan, Y., Heleniak, Z., Aydin, Z., Medical Informatics, APH - Aging & Later Life, APH - Methodology, APH - Quality of Care, Nephrology, ACS - Microcirculation, APH - Health Behaviors & Chronic Diseases, APH - Global Health, ACS - Pulmonary hypertension & thrombosis, ACS - Diabetes & metabolism, and Internal Medicine

Subjects
SDG 3 - Good Health and Well-being, external validation, Nephrology, cardiovascular disease, death, CKD, kidney failure, prognostic model
Abstract

Introduction: Predicting the timing and occurrence of kidney replacement therapy (KRT), cardiovascular events, and death among patients with advanced chronic kidney disease (CKD) is clinically useful and relevant. We aimed to externally validate a recently developed CKD G4+ risk calculator for these outcomes and to assess its potential clinical impact in guiding vascular access placement. Methods: We included 1517 patients from the European Quality (EQUAL) study, a European multicentre prospective cohort study of nephrology-referred advanced CKD patients aged ≥65 years. Model performance was assessed based on discrimination and calibration. Potential clinical utility for timing of referral for vascular access placement was studied with diagnostic measures and decision curve analysis (DCA). Results: The model showed a good discrimination for KRT and “death after KRT,” with 2-year concordance (C) statistics of 0.74 and 0.76, respectively. Discrimination for cardiovascular events (2-year C-statistic: 0.70) and overall death (2-year C-statistic: 0.61) was poorer. Calibration was fairly accurate. Decision curves illustrated that using the model to guide vascular access referral would generally lead to less unused arteriovenous fistulas (AVFs) than following estimated glomerular filtration rate (eGFR) thresholds. Conclusion: This study shows moderate to good predictive performance of the model in an older cohort of nephrology-referred patients with advanced CKD. Using the model to guide referral for vascular access placement has potential in combating unnecessary vascular surgeries.

Published
2022

29. Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome

Author

Sabrina Giglio, Angelica Pagliazzi, Viviana Palazzo, Orsetta Zuffardi, Aldesia Provenzano, Annabella Marozza, Paolo Reho, Antonio Farina, Provenzano A., Palazzo V., Reho P., Pagliazzi A., Marozza A., Farina A., Zuffardi O., and Giglio S.

Subjects
medicine.medical_specialty, Fraser syndrome, prenatal WES, Obstetrics, business.industry, medicine, Obstetrics and Gynecology, Prenatal diagnosis, medicine.disease, business, Fraser syndrome, Genetics (clinical)
Abstract

What's already known about this topic? NIPT is mainly limited to the screening of aneuploidies. The added value of WES, after an invasive procedure, in mal- formed fetuses that tested negative by chromosomal micro- array, claims for the application of NIPT to the screening of gene sequence variants, which are unpredictable with respect to family history and the type of fetal anomalies. What does this study add? Through a screening strategy, WES on cff-DNA can provide clinically relevant information in cases of fetal mal- formations characterized by high genetic heterogeneity.

Published
2020

30. Associations between depressive symptoms and disease progression in older patients with chronic kidney disease

Author

Eveleens Maarse, Boukje C., Chesnaye, Nicholas C., Robbert, Schouten, Michels, Wieneke M., Bos, Willem Jan W., Maciej, Szymczak, Magdalena, Krajewska, Marie Evans, Olof Heimburger, Caskey, Fergus J., Christoph, Wanner, Jager, Kitty J., Dekker, Friedo W., Yvette, Meuleman, Andreas, Schneider, Anke, Torp, Beate, Iwig, Boris, Perras, Christian, Marx, Christiane, Drechsler, Christof, Blaser, Claudia, Emde, Detlef, Krieter, Dunja, Fuchs, Ellen, Irmler, Eva, Platen, Hans, Schmidt-Gürtler, Hendrik, Schlee, Holger, Naujoks, Ines, Schlee, Sabine, Cäsar, Joachim, Beige, Jochen, Röthele, Justyna, Mazur, Kai, Hahn, Katja, Blouin, Katrin, Neumeier, Kirsten, Anding-Rost, Lothar, Schramm, Monika, Hopf, Nadja, Wuttke, Nikolaus, Frischmuth, Pawlos, Ichtiaris, Petra, Kirste, Petra, Schulz, Sabine, Aign, Sandra, Biribauer, Sherin, Manan, Silke, Röser, Stefan, Heidenreich, Stephanie, Palm, Susanne, Schwedler, Sylke, Delrieux, Sylvia, Renker, Sylvia, Schättel, Theresa, Stephan, Thomas, Schmiedeke, Thomas, Weinreich, Til, Leimbach, Torsten, Stövesand, Udo, Bahner, Wolfgang, Seeger, Cupisti, Adamasco, Adelia, Sagliocca, Alberto, Ferraro, Alessandra, Mele, Alessandro, Naticchia, Alex, Còsaro, Andrea, Ranghino, Andrea, Stucchi, Angelo, Pignataro, Antonella De Blasio, Antonello, Pani, Aris, Tsalouichos, Bellasi, Antonio, Biagio Raffaele Di Iorio, Butti, Alessandra, Cataldo, Abaterusso, Chiara, Somma, Claudia, D'Alessandro, Claudia, Torino, Claudia, Zullo, Claudio, Pozzi, Daniela, Bergamo, Daniele, Ciurlino, Daria, Motta, Domenico, Russo, Enrico, Favaro, Federica, Vigotti, Ferruccio, Ansali, Ferruccio, Conte, Francesca, Cianciotta, Francesca, Giacchino, Francesco, Cappellaio, Francesco, Pizzarelli, Gaetano, Greco, Gaetana, Porto, Giada, Bigatti, Giancarlo, Marinangeli, Gianfranca, Cabiddu, Giordano, Fumagalli, Giorgia, Caloro, Giorgina, Piccoli, Giovanbattista, Capasso, Giovanni, Gambaro, Giuliana, Tognarelli, Giuseppe, Bonforte, Giuseppe, Conte, Giuseppe, Toscano, Goffredo Del Rosso, Irene, Capizzi, Ivano, Baragetti, Lamberto, Oldrizzi, Loreto, Gesualdo, Luigi, Biancone, Manuela, Magnano, Marco, Ricardi, Maria Di Bari, Maria, Laudato, Maria Luisa Sirico, Martina, Ferraresi, Maurizio, Postorino, Michele, Provenzano, Moreno, Malaguti, Nicola, Palmieri, Paola, Murrone, Pietro, Cirillo, Pietro, Dattolo, Pina, Acampora, Rita, Nigro, Roberto, Boero, Roberto, Scarpioni, Rosa, Sicoli, Rosella, Malandra, Silvana, Savoldi, Silvio, Bertoli, Silvio, Borrelli, Stefania, Maxia, Stefano, Maffei, Stefano, Mangano, Teresa, Cicchetti, Tiziana, Rappa, Valentina, Palazzo, Walter De Simone, Anita, Schrander, Bastiaan van Dam, Carl, Siegert, Carlo, Gaillard, Charles, Beerenhout, Cornelis, Verburgh, Cynthia, Janmaat, Ellen, Hoogeveen, Ewout, Hoorn, Friedo, Dekker, Johannes, Boots, Henk, Boom, Jan-Willem, Eijgenraam, Jeroen, Kooman, Joris, Rotmans, Kitty, Jager, Liffert, Vogt, Maarten, Raasveld, Marc, Vervloet, Marjolijn van Buren, Merel van Diepen, Nicholas, Chesnaye, Paul, Leurs, Pauline, Voskamp, Peter, Blankestijn, Sadie van Esch, Siska, Boorsma, Stefan, Berger, Constantijn, Konings, Zeynep, Aydin, Aleksandra, Musiała, Anna, Szymczak, Ewelina, Olczyk, Hanna, Augustyniak-Bartosik, Ilona, Miśkowiec-Wiśniewska, Jacek, Manitius, Joanna, Pondel, Kamila, Jędrzejak, Katarzyna, Nowańska, Łukasz, Nowak, Magdalena, Durlik, Szyszkowska, Dorota, Teresa, Nieszporek, Zbigniew, Heleniak, Andreas, Jonsson, Anna-Lena, Blom, Björn, Rogland, Carin, Wallquist, Denes, Vargas, Emöke, Dimény, Fredrik, Sundelin, Fredrik, Uhlin, Gunilla, Welander, Isabel Bascaran Hernandez, Knut-Christian, Gröntoft, Maria, Stendahl, Maria, Svensson, Marie, Evans, Olof, Heimburger, Pavlos, Kashioulis, Stefan, Melander, Tora, Almquist, Ulrika, Jensen, Alistair, Woodman, Anna, Mckeever, Asad, Ullah, Barbara, Mclaren, Camille, Harron, Carla, Barrett, Charlotte, O'Toole, Christina, Summersgill, Colin, Geddes, Deborah, Glowski, Deborah, Mcglynn, Dympna, Sands, Fergus, Caskey, Geena, Roy, Gillian, Hirst, Hayley, King, Helen, Mcnally, Houda, Masri-Senghor, Hugh, Murtagh, Hugh, Rayner, Jane, Turner, Joanne, Wilcox, Jocelyn, Berdeprado, Jonathan, Wong, Joyce, Banda, Kirsteen, Jones, Lesley, Haydock, Lily, Wilkinson, Margaret, Carmody, Maria, Weetman, Martin, Joinson, Mary, Dutton, Michael, Matthews, Neal, Morgan, Nina, Bleakley, Paul, Cockwell, Paul, Roderick, Phil, Mason, Philip, Kalra, Rincy, Sajith, Sally, Chapman, Santee, Navjee, Sarah, Crosbie, Sharon, Brown, Sheila, Tickle, Suresh, Mathavakkannan, Ying, Kuan, Internal medicine, Nephrology, ACS - Diabetes & metabolism, Medical Informatics, APH - Methodology, APH - Aging & Later Life, Graduate School, APH - Quality of Care, ACS - Microcirculation, APH - Health Behaviors & Chronic Diseases, APH - Global Health, ACS - Pulmonary hypertension & thrombosis, Eveleens Maarse, B. C., Chesnaye, N. C., Schouten, R., Michels, W. M., Bos, W. J. W., Szymczak, M., Krajewska, M., Evans, M., Heimburger, O., Caskey, F. J., Wanner, C., Jager, K. J., Dekker, F. W., Meuleman, Y., Schneider, A., Torp, A., Iwig, B., Perras, B., Marx, C., Drechsler, C., Blaser, C., Emde, C., Krieter, D., Fuchs, D., Irmler, E., Platen, E., Schmidt-Gurtler, H., Schlee, H., Naujoks, H., Schlee, I., Casar, S., Beige, J., Rothele, J., Mazur, J., Hahn, K., Blouin, K., Neumeier, K., Anding-Rost, K., Schramm, L., Hopf, M., Wuttke, N., Frischmuth, N., Ichtiaris, P., Kirste, P., Schulz, P., Aign, S., Biribauer, S., Manan, S., Roser, S., Heidenreich, S., Palm, S., Schwedler, S., Delrieux, S., Renker, S., Schattel, S., Stephan, T., Schmiedeke, T., Weinreich, T., Leimbach, T., Stovesand, T., Bahner, U., Seeger, W., Cupisti, A., Sagliocca, A., Ferraro, A., Mele, A., Naticchia, A., Cosaro, A., Ranghino, A., Stucchi, A., Pignataro, A., De Blasio, A., Pani, A., Tsalouichos, A., Antonio, B., Raffaele Di Iorio, B., Alessandra, B., Abaterusso, C., Somma, C., D'Alessandro, C., Torino, C., Zullo, C., Pozzi, C., Bergamo, D., Ciurlino, D., Motta, D., Russo, D., Favaro, E., Vigotti, F., Ansali, F., Conte, F., Cianciotta, F., Giacchino, F., Cappellaio, F., Pizzarelli, F., Greco, G., Porto, G., Bigatti, G., Marinangeli, G., Cabiddu, G., Fumagalli, G., Caloro, G., Piccoli, G., Capasso, G., Gambaro, G., Tognarelli, G., Bonforte, G., Conte, G., Toscano, G., Del Rosso, G., Capizzi, I., Baragetti, I., Oldrizzi, L., Gesualdo, L., Biancone, L., Magnano, M., Ricardi, M., Di Bari, M., Laudato, M., Luisa Sirico, M., Ferraresi, M., Postorino, M., Provenzano, M., Malaguti, M., Palmieri, N., Murrone, P., Cirillo, P., Dattolo, P., Acampora, P., Nigro, R., Boero, R., Scarpioni, R., Sicoli, R., Malandra, R., Savoldi, S., Bertoli, S., Borrelli, S., Maxia, S., Maffei, S., Mangano, S., Cicchetti, T., Rappa, T., Palazzo, V., De Simone, W., Schrander, A., Van Dam, B., Siegert, C., Gaillard, C., Beerenhout, C., Verburgh, C., Janmaat, C., Hoogeveen, E., Hoorn, E., Boots, J., Boom, H., Eijgenraam, J. -W., Kooman, J., Rotmans, J., Vogt, L., Raasveld, M., Vervloet, M., Van Buren, M., Van Diepen, M., Leurs, P., Voskamp, P., Blankestijn, P., Van Esch, S., Boorsma, S., Berger, S., Konings, C., Aydin, Z., Musiala, A., Szymczak, A., Olczyk, E., Augustyniak-Bartosik, H., Miskowiec-Wisniewska, I., Manitius, J., Pondel, J., Jedrzejak, K., Nowanska, K., Nowak, L., Durlik, M., Dorota, S., Nieszporek, T., Heleniak, Z., Jonsson, A., Blom, A. -L., Rogland, B., Wallquist, C., Vargas, D., Dimeny, E., Sundelin, F., Uhlin, F., Welander, G., Bascaran Hernandez, I., Grontoft, K. -C., Stendahl, M., Svensson, M., Kashioulis, P., Melander, S., Almquist, T., Jensen, U., Woodman, A., Mckeever, A., Ullah, A., Mclaren, B., Harron, C., Barrett, C., O'Toole, C., Summersgill, C., Geddes, C., Glowski, D., Mcglynn, D., Sands, D., Roy, G., Hirst, G., King, H., Mcnally, H., Masri-Senghor, H., Murtagh, H., Rayner, H., Turner, J., Wilcox, J., Berdeprado, J., Wong, J., Banda, J., Jones, K., Haydock, L., Wilkinson, L., Carmody, M., Weetman, M., Joinson, M., Dutton, M., Matthews, M., Morgan, N., Bleakley, N., Cockwell, P., Roderick, P., Mason, P., Kalra, P., Sajith, R., Chapman, S., Navjee, S., Crosbie, S., Brown, S., Tickle, S., Mathavakkannan, S., and Kuan, Y.

Subjects
Transplantation, prospective cohort study, depressive symptoms, nephrology care, Nephrology, clinical outcome, chronic kidney disease, clinical trial, epidemiology, joint model, survival analysis, depressive symptom
Abstract

Background Depressive symptoms are associated with adverse clinical outcomes in patients with end-stage kidney disease; however, few small studies have examined this association in patients with earlier phases of chronic kidney disease (CKD). We studied associations between baseline depressive symptoms and clinical outcomes in older patients with advanced CKD and examined whether these associations differed depending on sex. Methods CKD patients (≥65 years; estimated glomerular filtration rate ≤20 mL/min/1.73 m2) were included from a European multicentre prospective cohort between 2012 and 2019. Depressive symptoms were measured by the five-item Mental Health Inventory (cut-off ≤70; 0–100 scale). Cox proportional hazard analysis was used to study associations between depressive symptoms and time to dialysis initiation, all-cause mortality and these outcomes combined. A joint model was used to study the association between depressive symptoms and kidney function over time. Analyses were adjusted for potential baseline confounders. Results Overall kidney function decline in 1326 patients was –0.12 mL/min/1.73 m2/month. A total of 515 patients showed depressive symptoms. No significant association was found between depressive symptoms and kidney function over time (P = 0.08). Unlike women, men with depressive symptoms had an increased mortality rate compared with those without symptoms [adjusted hazard ratio 1.41 (95% confidence interval 1.03–1.93)]. Depressive symptoms were not significantly associated with a higher hazard of dialysis initiation, or with the combined outcome (i.e. dialysis initiation and all-cause mortality). Conclusions There was no significant association between depressive symptoms at baseline and decline in kidney function over time in older patients with advanced CKD. Depressive symptoms at baseline were associated with a higher mortality rate in men.

Published
2022

31. Guidelines for genetic testing and management of Alport syndrome

Author

Judy Savige, Beata S. Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter, Savige, J, Lipska-Zietkiewicz, B, Watson, E, Hertz, Jm, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, Dg, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, Hm, Hoefele, J, Zacchia, M, Martic, Tn, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H, Flinter, F., RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, and MUMC+: DA KG Lab Centraal Lab (9)

Subjects
Feature, Collagen Type IV, KIDNEY-TRANSPLANTATION, RENAL-FAILURE, MICROSCOPIC HEMATURIA, Epidemiology, Nephritis, Hereditary, Alport syndrome, COL4A3, COL4A4, COL4A5, FSGS, collagen IV, digenic Alport syndrome, genetic testing, kidney cysts, thin basement membrane nephropathy, Critical Care and Intensive Care Medicine, urologic and male genital diseases, Autoantigens, DIGENIC INHERITANCE, SEQUENCE VARIANTS, Humans, GENOTYPE-PHENOTYPE CORRELATIONS, Transplantation, urogenital system, COL4A3/COL4A4 MUTATIONS, GLOMERULAR-BASEMENT-MEMBRANE, NATURAL-HISTORY, female genital diseases and pregnancy complications, Nephrology, Practice Guidelines as Topic, FAMILIAL HEMATURIA
Abstract

Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing for persistent hematuria, even when a heterozygous pathogenic COL4A3 or COL4A4 is suspected, and cascade testing of their first-degree family members because of their risk of impaired kidney function. The experts recommend too that COL4A3 or COL4A4 heterozygotes do not act as kidney donors. Testing for variants in the COL4A3-COL4A5 genes should also be performed for persistent proteinuria and steroid-resistant nephrotic syndrome due to suspected inherited FSGS and for familial IgA glomerulonephritis and kidney failure of unknown cause.

Published
2022

32. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Tamara Nikuševa Martić, Carmela Errichiello, Albertien M. van Eerde, Anniek Corveleyn, Pascale Hilbert, Rimante Cerkauskiene, Micheel van Geel, Samuela Landini, Concetta Gangemi, Miriam Zacchia, Emma Ashton, Evelien Van Hoof, Valeria Aiello, Martin C. Gregory, Elisabeth Ars, Viviana Palazzo, Constantinos Deltas, Asheeta Gupta, Laura Massella, Susie Gear, Laith Al-Rabadi, Danica Galešić Ljubanović, Louise Hopkinson, Julia Hoefele, Jens Michael Hertz, Peter H. Byers, Elizabeth Watson, Judy Savige, Agnieszka Bierzynska, Francesca Becherucci, Pavlina Plevova, Beata S. Lipska-Ziętkiewicz, Maggie Williams, Adrian Lungu, Ania Koziell, Kathleen Claes, Agne Cerkauskaite, Francesca Mari, Hendica Belge, Alessandra Renieri, Helen Storey, Hansjorg Martin Rothe, Rachel Lennon, Savige, J., Storey, H., Watson, E., Hertz, J. M., Deltas, C., Renieri, A., Mari, F., Hilbert, P., Plevova, P., Byers, P., Cerkauskaite, A., Gregory, M., Cerkauskiene, R., Ljubanovic, D. G., Becherucci, F., Errichiello, C., Massella, L., Aiello, V., Lennon, R., Hopkinson, L., Koziell, A., Lungu, A., Rothe, H. M., Hoefele, J., Zacchia, M., Martic, T. N., Gupta, A., van Eerde, A., Gear, S., Landini, S., Palazzo, V., al-Rabadi, L., Claes, K., Corveleyn, A., Van Hoof, E., van Geel, M., Williams, M., Ashton, E., Belge, H., Ars, E., Bierzynska, A., Gangemi, C., Lipska-Zietkiewicz, B. S., RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, and MUMC+: DA KG Lab Centraal Lab (9)

Subjects
Collagen Type IV, medicine.medical_specialty, Consensus, IV COLLAGEN, 030232 urology & nephrology, AMINO-ACID-SEQUENCE, MEDICAL GENETICS, Diseases, Nephritis, Hereditary, AMERICAN-COLLEGE, Meeting Report, urologic and male genital diseases, Autoantigens, DISEASE, 03 medical and health sciences, diseases, Alport syndrome, 0302 clinical medicine, Genetics, medicine, GLYCINE SUBSTITUTIONS, Humans, Genetic Testing, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, MUTATIONS, Molecular diagnostics, medicine.disease, Phenotype, female genital diseases and pregnancy complications, Minor allele frequency, OSTEOGENESIS IMPERFECTA, BASEMENT-MEMBRANE, Practice Guidelines as Topic, Medical genetics, CHAIN, business, Nephrotic syndrome, Minigene, Founder effect
Abstract

The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family history of haematuria or renal failure) to include persistent proteinuria, steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis (FSGS), familial IgA glomerulonephritis and end-stage kidney failure without an obvious cause. The meeting refined the ACMG criteria for variant assessment for the Alport genes (COL4A3–5). It identified ‘mutational hotspots’ (PM1) in the collagen IV α5, α3 and α4 chains including position 1 Glycine residues in the Gly-X-Y repeats in the intermediate collagenous domains; and Cysteine residues in the carboxy non-collagenous domain (PP3). It considered that ‘well-established’ functional assays (PS3, BS3) were still mainly research tools but sequencing and minigene assays were commonly used to confirm splicing variants. It was not possible to define the Minor Allele Frequency (MAF) threshold above which variants were considered Benign (BA1, BS1), because of the different modes of inheritances of Alport syndrome, and the occurrence of hypomorphic variants (often Glycine adjacent to a non-collagenous interruption) and local founder effects. Heterozygous COL4A3 and COL4A4 variants were common ‘incidental’ findings also present in normal reference databases. The recognition and interpretation of hypomorphic variants in the COL4A3–COL4A5 genes remains a challenge.

Published
2021

33. Capecitabine with/without mitomycin C: results of a randomized phase II trial of second-line therapy in advanced biliary tract adenocarcinoma

Author

Luca Aldrighetti, Antonella Galiano, B. Reinach, Giuseppe Aprile, Anna Novarino, V. Palazzo, Stefano Cordio, Concetta Martines, Francesco Leone, Michele Reni, Daniele Santini, Vanja Vaccaro, Donatella Marino, Alessandra Auriemma, Carmen Belli, Stefania Mosconi, Stefano Cereda, Michele Milella, Enrico Vasile, Stefania Eufemia Lutrino, Cereda, S, Milella, M, Cordio, S, Leone, F, Aprile, G, Galiano, A, Mosconi, S, Vasile, E, Santini, D, Belli, C, Auriemma, A, Novarino, A, Vaccaro, V, Martines, C, Marino, D, Lutrino, Se, Palazzo, V, Reinach, B, Aldrighetti, L, and Reni, M

Subjects
0301 basic medicine, Oncology, Male, Cancer Research, Phases of clinical research, Toxicology, Thymidylate synthase, 0302 clinical medicine, Mitomycin C, Antineoplastic Combined Chemotherapy Protocols, Clinical endpoint, Pharmacology (medical), biology, Medicine (all), Middle Aged, Gene Expression Regulation, Neoplastic, Biliary Tract Neoplasms, Treatment Outcome, Biliary tract cancer, Capecitabine, Second-line therapy, Thymidine phosphorylase, Adenocarcinoma, Adult, Aged, Disease-Free Survival, Female, Humans, Mitomycin, Neoplasm Staging, Thymidine Phosphorylase, Thymidylate Synthase, Pharmacology, 030220 oncology & carcinogenesis, medicine.drug, medicine.medical_specialty, 03 medical and health sciences, Internal medicine, medicine, Cancer staging, Neoplastic, business.industry, medicine.disease, Regimen, 030104 developmental biology, Gene Expression Regulation, biology.protein, business
Abstract

Advanced biliary tract adenocarcinoma (BTA) is a rare tumor with a poor prognosis. Since no standard salvage chemotherapy regimen exists, we explored the activity of capecitabine alone or combined with mitomycin C. Patients aged 18-75 years and with KPS > 50, with pathological diagnosis of BTA stratified based on site and stage of disease, were randomized to receive capecitabine 2000 mg/m(2) day 1-14 alone (ARM A) or in combination with mitomycin C 6 mg/m(2) day 1 (ARM B) as second-line therapy. Cycles were repeated in both arms every 3 weeks. Tumor assessment was performed every 2 months. The primary endpoint was the probability of being progression free at 6 months (PFS-6) from treatment start. According to the Fleming design, the study aimed to enroll 26 pts per arm. An exploratory endpoint was to assess thymidylate synthase (TS) and thymidine phosphorylase (TP) expression, as biomarkers predictive for clinical outcomes of capecitabine treatment. Between October 2011 and 2013, 57 metastatic pts were enrolled: ARM A/B 28/29. Accordingly, 55 (26/29) pts were assessable for the primary endpoint: 2 (8 %) ARM A and 3 (10 %) ARM B pts were PFS-6. Main G3-4 toxicities were: hand-foot syndrome and transaminitis in 4/0 %, and thrombocytopenia, diarrhea and fatigue in 0/3 % of pts. No statistically significant correlation was found between TS or TP expression and pts' outcome. Since capecitabine yielded a disappointing outcome and the addition of mitomycin C did not improve the results, new therapeutic strategies need to be explored to improve survival in this disease setting.

Published
2015

34. Solution procedures for J3 plasticity and viscoplasticity

Author

Nunziante Valoroso, Vincenzo Palazzo, Luciano Rosati, Palazzo, V., Rosati, Luciano, and Valoroso, N.

Subjects
plasticità computazionale, Tensor contraction, Finite elements, Computational plasticity, Consistent tangent, Cauchy stress tensor, Mechanical Engineering, Mathematical analysis, Computational Mechanics, Tensor product of Hilbert spaces, General Physics and Astronomy, Elementi finiti, linearizzazione, Computer Science Applications, Tensor field, Exact solutions in general relativity, Cartesian tensor, Mechanics of Materials, Symmetric tensor, operatore tangente, algoritmi, Tensor density, Mathematics
Abstract

A solution strategy for plasticity and viscoplasticity models with isotropic yield surfaces depending upon all the principal invariants of the stress tensor is presented. Basically, it requires the inversion of a fourth-order positive definite tensor G both for the solution of the constitutive problem and for the evaluation of the consistent tangent operator. It is proved that the assumption of isotropic elastic behaviour and the isotropy of the yield criterion entail an explicit representation formula for G −1 as linear combination of dyadic and square tensor products. Further, an analogous representation formula for the consistent tangent operator is provided. By exploiting basic composition rules between dyadic and square tensor products along with Rivlin's identities for tensor polynomials, all tensor operations required to compute the coefficients of the adopted representation formula for G −1 are carried out in intrinsic form. It is thus shown that the relevant computational burden essentially amounts to solving a linear system of order three. The performances of the proposed approach are illustrated by means of some numerical examples referred to the Argyris failure criterion.

Published
2001

35. Anti-slit diaphragm antibodies on kidney biopsy identify pediatric patients with steroid-resistant nephrotic syndrome responsive to second-line immunosuppressants.

Author

Raglianti V, Angelotti ML, Cirillo L, Ravaglia F, Landini S, Palazzo V, Melica ME, Antonelli G, Conte C, Buti E, Errichiello C, De Chiara L, Peired AJ, Lasagni L, Buccoliero AM, Allinovi M, Montero AM, Cruzado JM, Bruschi M, Ghiggeri GM, Angeletti A, Anders HJ, Lazzeri E, Mazzinghi B, Becherucci F, and Romagnani P

Abstract

Podocytopathies represent a group of glomerular disorders associated with minimal changes (MC) or focal segmental glomerulosclerosis (FSGS) lesion patterns at biopsy and heterogeneous responses to steroids. Anti-nephrin antibodies were previously found in such patients, suggesting an autoimmune form of podocytopathy. High resolution confocal microscopy on kidney biopsies of a cohort of 128 pediatric patients revealed localization of IgG along the slit diaphragm in 30% of patients with MC and 25% of those with FSGS, but not in other lesion patterns. Anti-nephrin IgG ELISA assay in the serum and stimulated emission depletion microscopy of kidney biopsies showed IgG-nephrin co-localization only in 77.8% of cases. Similar observations were obtained in a cohort of 48 adult patients with MC or FSGS at kidney biopsy, where IgG-nephrin colocalization was only 44.4%, suggesting the existence of autoantibodies binding to other slit proteins. Patients with anti-slit antibodies showed nephrotic syndrome at onset in 94.4% of cases. Patients with primary steroid-resistance had anti-slit antibodies in 27%, while those with secondary steroid-resistance in 87.5% of cases, irrespective of the histopathological lesion pattern. Steroid-resistant patients with anti-slit antibodies responded to second-line immunosuppressants in 92.3% vs. only 20% of patients that were anti-slit negative. No patient with anti-slit antibodies developed kidney failure vs. 51.7% of those negative for antibodies (66.7% with a genetic cause and 41.2% with a non-genetic cause). Thus, the detection of anti-slit antibodies can identify patients with an autoimmune podocytopathy responsive to treatment with second-line immunosuppressants, irrespective of the histopathological lesion pattern at biopsy., (Copyright © 2024 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.)

Published
2024
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36. Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.

Author

Barbato A, Gori G, Sacchini M, Pochiero F, Bargiacchi S, Traficante G, Palazzo V, Tiberi L, Bianchini C, Mei D, Parrini E, Pisano T, Procopio E, Guerrini R, Peron A, and Stagi S

Abstract

Context: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain and is located within the internal membrane of mitochondria. COX deficiency causes an inherited mitochondrial disease with significant genetic and phenotypic heterogeneity. Four clinical subtypes have been identified, each with distinct phenotypes and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is a form of COX deficiency associated with pathogenic variants in the SCO1 gene., Case Description: We describe three patients with MC4DN4 with developmental and epileptic encephalopathy (DEE), hypopituitarism, and SCO1 pathogenic variants. These patients' phenotypes considerably differ from previously reported MC4DN4 phenotypes as they associate DEE with progressive hypopituitarism and survival beyond the first months after birth. Pituitary deficiency in these patients progressively worsened and mainly involved growth hormone secretion and thyroid function., Conclusions: Our findings expand knowledge of phenotypic variability in MC4DN4 and suggest that SCO1 is a candidate gene for genetic hypopituitarism and DEE., Significance Statement: Our paper describes three patients affected by MC4DN4 with hypopituitarism and developmental and epileptic encephalopathy (DEE), two features that have never been associated with this condition. In addition, we reviewed the clinical features of all previous cases of MC4DN4 to give the other clinicians a wide picture of the clinical phenotype of this genetic disease. We hope that the publication of our data may help others to identify this disease and consider the chance to analyze the SCO1 gene in cases of DEE associated with pituitary dysfunction. Our article contributes to expanding the spectrum of genetic hypopituitarism and proposes a model to explain an association between this condition, mitochondrial anomalies, and neurodevelopmental defects.

Published
2024
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37. Endovascular solutions for symptomatic free-floating thrombus in thoracic aorta in rheumatoid arthritis patients: Two clinical cases.

Author

Mastrangelo G, Di Sebastiano P, and Palazzo V

Abstract

Objectives: We present two clinical cases of association between symptomatic free-floating thrombus (FFT) in thoracic aorta and rheumatoid arthritis (RA)., Methods: In the first patient, we observed a recent onset of peripheral and visceral signs of embolization: after a first treatment with anticoagulation, our Aortic team scheduled the coverage of FFT (sited in zone 1 of the aortic arch) with an anatomical debranching of anonymous trunk and left carotid artery, a left carotid-subclavian bypass, and a TEVAR of the aortic arch with proximal landing in zone 0 of the arch. The second case was characterized by chest pain, left upper limb ischemia, and CTA evidence of an FFT in zone 3 of the aortic arch; we planned a chimney-TEVAR on the left subclavian artery and descending thoracic aorta (with proximal landing in zone 2 of the aortic arch) to exclude the FFT., Results: No complications resulted and no new embolic episodes were registered., Conclusions: Evaluating the aorta is warranted in all patients with peripheral emboli of uncertain pathogenesis. In our opinion, the endovascular treatment of a symptomatic FFT could represent an effective and safe solution in a patient fit for endovascular surgery, but larger studies are required to define a personalized treatment strategy., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Published
2024
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38. Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.

Author

Bacci GM, Marziali E, Bargiacchi S, Paques M, Virgili G, Fortunato P, Durand M, Rocca C, Pagliazzi A, Palazzo V, Tiberi L, Vergani D, Landini S, Peron A, Artuso R, Pacini B, Stabile M, Sodi A, and Caputo R

Subjects
Humans, Male, Child, Female, Adolescent, Fluorescein Angiography methods, Albinism genetics, Tomography, Optical Coherence methods, Fovea Centralis abnormalities, Fovea Centralis pathology, Fovea Centralis diagnostic imaging, Phenotype, Multimodal Imaging methods, Visual Acuity
Abstract

Aim of the present study is to evaluate the relationship between genetic and phenotypic data in a series of patients affected by grade I and II of foveal hypoplasia with stable fixation and good visual acuity using multimodal imaging techniques. All patients underwent complete clinical and instrumental assessment including structural Optical Coherence Tomography (OCT), OCT Angiography and Adaptive Optics (AO) imaging. Central macular thickness (CMT), inner nuclear layer (INL), vessel density in superficial capillary plexus were the main variables evaluated with OCT technology. Cone density, cone spacing, cone regularity, cone dispersion and angular density were the parameters evaluated with AO. Genetic evaluation and trio exome sequencing were performed in all affected individuals. Eight patients (3 males and 5 females) with a mean age of 12.62 years (range 8-18) were enrolled. The mean best corrected visual acuity (BCVA) was 0.18 ± 0.13 logMAR, mean CMT was 291.9 ± 16.6 µm and INL was 26.2 ± 4.6 µm. The absence of a foveal avascular zone (FAZ) was documented by examination of OCT-A in seven patients in the superficial capillary plexus. However, there was a partial FAZ in the deep plexus in patients P5 and P8. Of note, all the patients presented with major retinal vessels clearly crossing the foveal center. All individuals exhibited a grade I or II of foveal hypoplasia. In 5 patients molecular analyses showed an extremely mild form of albinism caused by compound heterozygosity of a TYR pathogenic variant and the hypomorphic p.[Ser192Tyr;Arg402Gln] haplotype. One patient had Waardenburg syndrome type 2A caused by a de novo variant in MITF. Two patients had inconclusive molecular analyses. All the patients displayed abnormalities on OCT-A. Photoreceptor count did not differ from normal subjects according to the current literature, but qualitative analysis of AO imaging showed distinctive features likely related to an abnormal pigment distribution in this subset of individuals. In patients with foveal hypoplasia, genetic and multimodal imaging data, including AO findings, can help understand the physiopathology of the foveal hypoplasia phenotype. This study confirms that cone density and visual function can both be preserved despite the absence of a pit., (© 2024. The Author(s).)

Published
2024
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39. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Author

Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A, Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, and Mill P

Subjects
Animals, Humans, Mice, Mutation, Protein Isoforms genetics, Protein Isoforms metabolism, Male, Female, Mice, Knockout, Axoneme metabolism, Centrioles metabolism, Cilia metabolism, Ciliary Motility Disorders genetics, Ciliary Motility Disorders metabolism, Tubulin genetics, Tubulin metabolism
Abstract

Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct isotypes form cell type- and context-specific microtubule structures is poorly understood. Based on a cohort of 12 patients with primary ciliary dyskinesia as well as mouse mutants, we identified and characterized variants in the TUBB4B isotype that specifically perturbed centriole and cilium biogenesis. Distinct TUBB4B variants differentially affected microtubule dynamics and cilia formation in a dominant-negative manner. Structure-function studies revealed that different TUBB4B variants disrupted distinct tubulin interfaces, thereby enabling stratification of patients into three classes of ciliopathic diseases. These findings show that specific tubulin isotypes have distinct and nonredundant subcellular functions and establish a link between tubulinopathies and ciliopathies.

Published
2024
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41. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

Author

Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, and Lipska-Ziętkiewicz BS

Published
2024
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42. Optic nerve involvement in CACNA1F -related disease: observations from a multicentric case series.

Author

Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini I, Palazzo V, Peluso F, de Baere E, Zeitz C, Leroy BP, Secci J, and Bacci GM

Subjects
Humans, Optic Nerve, Tomography, Optical Coherence, Calcium Channels, L-Type genetics, Night Blindness diagnosis, Night Blindness genetics, Myopia diagnosis, Myopia genetics, Retinal Diseases genetics
Abstract

Background: Congenital Stationary Night Blindness (CSNB) constitutes a group of non-progressive retinal disorders characterized by disturbances in scotopic vision and/or by a delay in adaptation to darkness, as well as by low visual acuity, myopia, nystagmus, and strabismus. Color vision and fundus appearance tend to be normal. To date, several CACNA1F gene variants have been linked to a CSNB phenotype but only few reports have focused on the optic nerve in this disease., Materials and Methods: Twelve patients underwent standard ophthalmological and genetic evaluation including spectral domain optical coherence tomography (SD-OCT), full-field electroretinography (ffERG), kinetic perimetry, fundus photography, magnetic resonance imaging (MRI), and next-generation sequencing (NGS). Bilateral thinning of the peripapillary nerve fiber layer (pRNFL) and the ganglion cell complex (GCC) supported involvement of the optic nerves. MRI, when available, was assessed for gross intracranial optic pathway abnormalities., Results: All patients were shown to carry pathogenic variants in the CACNA1F gene, and all showed signs of optic nerve involvement. All patients showed a certain degree of myopic refractive error. Low average pRNFL thickness was evident in all patients. In three of them, pRNFL thickness was evaluated longitudinally and was proven to be stable over time. MRI imaging was unremarkable in all cases., Conclusion: Our data support the hypothesis that CACNA1F could be related to early-onset or congenital optic nerve involvement without any signs of a progressive optic neuropathy. Even though additional data from larger cohorts and longer follow-up periods are needed to further support and confirm our findings, there is a clear significance to our findings in the preparation for future CACNA1F gene therapy trials.

Published
2023
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43. Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.

Author

Mazzierli T, Cirillo L, Palazzo V, Ravaglia F, and Becherucci F

Subjects
Humans, Uric Acid, Acute Kidney Injury diagnosis, Urinary Calculi etiology, Urinary Calculi genetics, Renal Tubular Transport, Inborn Errors
Abstract

Hypouricemia is defined as a level of serum uric acid below 2 mg/dl. Renal hypouricemia is related to genetic defects of the uric acid tubular transporters urate transporter 1 and glucose transporter 9. Patients with renal hypouricemia can be completely asymptomatic or can develop uric acid kidney stones or acute kidney injury, particularly after exercise. Renal hypouricemia is especially challenging to diagnose in patients with acute kidney injury, due to the nonspecific clinical, hematochemical and histological features. No common features are reported in the literature that could help clinicians identify renal hypouricemia-acute kidney injury. Currently available guidelines on diagnosis and management of renal hypouricemia provide limited support in defining clues for the differential diagnosis of renal hypouricemia, which is usually suspected when hypouricemia is found in asymptomatic patients. In this paper we report a case of renal hypouricemia-acute kidney injury developing after exercise. We carried out a review of the literature spanning from the first clinical description of renal hypouricemia in 1974 until 2022. We selected a series of clinical features suggesting a diagnosis of renal hypouricemia-acute kidney injury. This may help clinicians to suspect renal hypouricemia in patients with acute kidney injury and to avoid invasive, costly and inconclusive exams such as renal biopsy. Considering the excellent outcome of the patients reported in the literature, we suggest a "wait-and-see" approach with supportive therapy and confirmation of the disease via genetic testing., (© 2022. The Author(s).)

Published
2023
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44. A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.

Author

Becherucci F, Landini S, Palazzo V, Cirillo L, Raglianti V, Lugli G, Tiberi L, Dirupo E, Bellelli S, Mazzierli T, Lomi J, Ravaglia F, Sansavini G, Allinovi M, Giannese D, Somma C, Spatoliatore G, Vergani D, Artuso R, Rosati A, Cirami C, Dattolo PC, Campolo G, De Chiara L, Papi L, Vaglio A, Lazzeri E, Anders HJ, Mazzinghi B, and Romagnani P

Subjects
Adult, Infant, Newborn, Humans, Child, Workflow, Kidney, Genetic Testing, Urinary Tract, Renal Insufficiency, Chronic diagnosis, Renal Insufficiency, Chronic genetics
Abstract

Significance Statement: To optimize the diagnosis of genetic kidney disorders in a cost-effective manner, we developed a workflow based on referral criteria for in-person evaluation at a tertiary center, whole-exome sequencing, reverse phenotyping, and multidisciplinary board analysis. This workflow reached a diagnostic rate of 67%, with 48% confirming and 19% modifying the suspected clinical diagnosis. We obtained a genetic diagnosis in 64% of children and 70% of adults. A modeled cost analysis demonstrated that early genetic testing saves 20% of costs per patient. Real cost analysis on a representative sample of 66 patients demonstrated an actual cost reduction of 41%. This workflow demonstrates feasibility, performance, and economic effect for the diagnosis of genetic kidney diseases in a real-world setting., Background: Whole-exome sequencing (WES) increases the diagnostic rate of genetic kidney disorders, but accessibility, interpretation of results, and costs limit use in daily practice., Methods: Univariable analysis of a historical cohort of 392 patients who underwent WES for kidney diseases showed that resistance to treatments, familial history of kidney disease, extrarenal involvement, congenital abnormalities of the kidney and urinary tract and CKD stage ≥G2, two or more cysts per kidney on ultrasound, persistent hyperechoic kidneys or nephrocalcinosis on ultrasound, and persistent metabolic abnormalities were most predictive for genetic diagnosis. We prospectively applied these criteria to select patients in a network of nephrology centers, followed by centralized genetic diagnosis by WES, reverse phenotyping, and multidisciplinary board discussion., Results: We applied this multistep workflow to 476 patients with eight clinical categories (podocytopathies, collagenopathies, CKD of unknown origin, tubulopathies, ciliopathies, congenital anomalies of the kidney and urinary tract, syndromic CKD, metabolic kidney disorders), obtaining genetic diagnosis for 319 of 476 patients (67.0%) (95% in 21 patients with disease onset during the fetal period or at birth, 64% in 298 pediatric patients, and 70% in 156 adult patients). The suspected clinical diagnosis was confirmed in 48% of the 476 patients and modified in 19%. A modeled cost analysis showed that application of this workflow saved 20% of costs per patient when performed at the beginning of the diagnostic process. Real cost analysis of 66 patients randomly selected from all categories showed actual cost reduction of 41%., Conclusions: A diagnostic workflow for genetic kidney diseases that includes WES is cost-saving, especially if implemented early, and is feasible in a real-world setting., (Copyright © 2023 by the American Society of Nephrology.)

Published
2023
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45. Factor structure of post-operative quality of recovery questionnaire (QoR-15): An Italian adaptation and validation.

Author

Rosato R, Palazzo V, Borghi F, Camanni M, Puppo A, Delpiano EM, Pellegrino L, Piovano E, Rizzo A, Rolfo M, Morino M, Allaix ME, Testa S, Ciccone G, and Pagano E

Abstract

Background: The Quality of Recovery questionnaire (QoR-15) is an English instrument for measuring quality of recovery in surgical patients, not yet translated and validated in Italian when the Enhanced Recovery After Surgery (ERAS) Piemonte studies were planned., Objective: To produce the Italian version of the QoR-15 questionnaire, to evaluate its factorial structure and to assess the invariance between two types of surgery., Methods: The Italian version (QoR-15I) was obtained translating and adapting the original version to the Italian context. The validation was performed suppling the QoR-15I to 3,784 patients enrolled in two parallel stepped wedge cluster randomised trials (ERAS Colon-rectum Piemonte; ERAS Gyneco Piemonte). The factor structure and its invariance between types of surgery was tested using confirmatory bifactor model and multi-group analysis. Comparative fit index (CFI), root mean square error of approximation (RMSEA), and standardized root mean square residual (SRMR) fit indices and their changes between nested models were used to assess the factor structure and the invariance., Results: The bifactor model showed good fit (RMSEA = 0.049, CFI =0.957, SRMR = 0.036) and provided a general recovery factor and two specific factors for physical and mental recovery. Eighty-four percent of the common variance is attributable to the general factor, and thus the QoR-15I is sufficiently 'one-dimensional' with an adequate reliability (ω h = 0.70). The ωs values for the physical and mental recovery factors were 0.01 and 0.13, respectively. Multigroup analysis supported configural (RMSEA = 0.053, CFI = 0.950, SRMR = 0.035) and metric invariance (ΔRMSEA = -0.004; ΔCFI = -0.002; ΔSRMR = 0.014), whereas the intercept constraint was removed from item 15 to obtain partial scalar invariance (ΔRMSEA = 0.002; ΔCFI = 0.007; ΔSRMR = 0.004). Construct validity was supported by a negative association of QoR-15I scores with all variables related to worse patient condition and more complex surgery., Conclusion: Our results support the use of the QoR-15I as a valid, reliable, and clinically feasible tool for measuring the quality of recovery after surgery. The results of the confirmatory factor analyses suggest that a unique recovery score can be calculated and support measurement invariance of the QOR-15I across the two type of surgery, suggesting that the questionnaire has the same meaning and the same measurement parameters in colorectal and gynaecologic patients., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Rosato, Palazzo, Borghi, Camanni, Puppo, Delpiano, Pellegrino, Piovano, Rizzo, Rolfo, Morino, Allaix, Testa, Ciccone and Pagano.)

Published
2023
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46. How the First Year of the COVID-19 Pandemic Impacted Patients' Hospital Admission and Care in the Vascular Surgery Divisions of the Southern Regions of the Italian Peninsula.

Author

Martelli E, Sotgiu G, Saderi L, Federici M, Sangiorgi G, Zamboni M, Martelli AR, Accarino G, Bianco G, Bonanno F, Bracale UM, Cappello E, Cioffi G, Colacchio G, Crinisio A, De Vivo S, Dionisi CP, Flora L, Impedovo G, Intrieri F, Iorio L, Maritati G, Modugno P, Monaco M, Natalicchio G, Palazzo V, Petrosino F, Pompeo F, Pulli R, Razzano D, Ruggieri MR, Ruotolo C, Sangiuolo P, Vigliotti G, Volpe P, Biello A, Boggia P, Boschetti M, Centritto EM, Condò F, Cucciolillo L, D'Amodio AS, De Laurentis M, Desantis C, Di Lella D, Di Nardo G, Disabato A, Ficarelli I, Gasparre A, Giordano AN, Luongo A, Massara M, Molinari V, Padricelli A, Panagrosso M, Petrone A, Pisanello S, Prunella R, Tedesco M, and Settembrini AM

Abstract

Background: To investigate the effects of the COVID-19 lockdowns on the vasculopathic population. Methods: The Divisions of Vascular Surgery of the southern Italian peninsula joined this multicenter retrospective study. Each received a 13-point questionnaire investigating the hospitalization rate of vascular patients in the first 11 months of the COVID-19 pandemic and in the preceding 11 months. Results: 27 out of 29 Centers were enrolled. April-December 2020 (7092 patients) vs. 2019 (9161 patients): post-EVAR surveillance, hospitalization for Rutherford category 3 peripheral arterial disease, and asymptomatic carotid stenosis revascularization significantly decreased (1484 (16.2%) vs. 1014 (14.3%), p = 0.0009; 1401 (15.29%) vs. 959 (13.52%), p = 0.0006; and 1558 (17.01%) vs. 934 (13.17%), p < 0.0001, respectively), while admissions for revascularization or major amputations for chronic limb-threatening ischemia and urgent revascularization for symptomatic carotid stenosis significantly increased (1204 (16.98%) vs. 1245 (13.59%), p < 0.0001; 355 (5.01%) vs. 358 (3.91%), p = 0.0007; and 153 (2.16%) vs. 140 (1.53%), p = 0.0009, respectively). Conclusions: The suspension of elective procedures during the COVID-19 pandemic caused a significant reduction in post-EVAR surveillance, and in the hospitalization of asymptomatic carotid stenosis revascularization and Rutherford 3 peripheral arterial disease. Consequentially, we observed a significant increase in admissions for urgent revascularization for symptomatic carotid stenosis, as well as for revascularization or major amputations for chronic limb-threatening ischemia.

Published
2022
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47. Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

Author

Rocca C, Tiberi L, Bargiacchi S, Palazzo V, Landini S, Marziali E, Caputo R, Tinelli F, Marchi V, Benedetto A, Pagliazzi A, and Bacci GM

Subjects
Eye Diseases, Hereditary, Fovea Centralis abnormalities, Humans, Nystagmus, Congenital, Vision Disorders diagnosis, Visual Acuity, Albinism, Albinism, Oculocutaneous diagnosis, Albinism, Oculocutaneous genetics, Albinism, Oculocutaneous pathology
Abstract

Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients can show significant clinical variability; some individuals can present with only mild depigmentation and subtle ocular changes. Here, we provide a retrospective review of the standardized clinical charts of patients firstly addressed for evaluation of foveal hypoplasia and slightly subnormal visual acuity, whose diagnosis of albinism was achieved only after extensive phenotypic and genotypic characterization. Our report corroborates the pathogenicity of the two common TYR polymorphisms p.(Arg402Gln) and p.(Ser192Tyr) when both are located in trans with a pathogenic TYR variant and aims to expand the phenotypic spectrum of albinism in order to increase the detection rate of the albino phenotype. Our data also suggest that isolated foveal hypoplasia should be considered a clinical sign instead of a definitive diagnosis of an isolated clinical entity, and we recommend deep phenotypic and molecular characterization in such patients to achieve a proper diagnosis.

Published
2022
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48. Implementation of the ERAS (Enhanced Recovery After Surgery) protocol for hysterectomy in the Piedmont Region with an audit&feedback approach: Study protocol for a stepped wedge cluster randomized controlled trial. A study of the EASY-NET project.

Author

Piovano E, Pagano E, Del Piano E, Rinaldi F, Palazzo V, Coata P, Bongiovanni D, Rolfo M, Ceretto Giannone L, Veliaj D, Camanni M, Puppo A, and Ciccone G

Subjects
Feedback, Female, Humans, Hysterectomy, Multicenter Studies as Topic, Pandemics, Randomized Controlled Trials as Topic, COVID-19, Enhanced Recovery After Surgery
Abstract

Introduction: ERAS (Enhanced Recovery After Surgery) is a perioperative program combining multiple evidence-based interventions designed to reduce the surgical stress response. Despite the publication of dedicated guidelines, ERAS application to gynecologic surgery outside clinical studies has been slow and fragmented. To promote the systematic adoption of the ERAS program in the entire regional hospital network in Piedmont an Audit-and-Feedback approach (A&F) has been adopted within a cluster randomized controlled trial, aiming to estimate the true impact of the protocol on a large, unselected population., Methods: The study protocol provides for a multicenter stepped wedge cluster randomized trial, focused on women undergoing an hysterectomy, for comparison between standard perioperative management and perioperative management according to the ERAS protocol. The primary outcome is the length of hospital stay (LOS). Secondary outcomes are: post-operative complications, quality-of-recovery at 24-hours after surgery, 30-day readmissions, patients' satisfaction, healthcare costs. The compliance to all the ERAS items is monitored with an A&F approach. All the gynecologic units of Piedmont hospitals are involved and all the patients hospitalized for elective hysterectomy in the period of the study are included. Centers, stratified by surgical volume and randomly assigned to four groups, are randomly ordered to activate the ERAS protocol in four periods, every three months. The planned calendar and the total duration of the study have been extended for six months due to the COVID-19 pandemic. The expected sample size of about 2400 patients has a high statistical power (99%) to detect a reduction of LOS of 1 day (effect size 0.5) and to estimate clinically meaningful changes in the other study endpoints. The study protocol has been approved by the Ethical Committee of all participating centers. Study results will be timely circulated within the hospital network and published in peer-reviewed journals., Conclusion: Results are expected to demonstrate positive clinical outcomes of the ERAS protocol even when its implementation is directed towards an entire regional network of gynecologic units, and not only towards selected and highly motivated centers., Trial Registration: NCT04063072., Competing Interests: The authors have declared that no competing interests exist.

Published
2022
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49. Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Author

Palazzo V, Raglianti V, Landini S, Cirillo L, Errichiello C, Buti E, Artuso R, Tiberi L, Vergani D, Dirupo E, Romagnani P, Mazzinghi B, and Becherucci F

Subjects
DNA Copy Number Variations, Female, Humans, Infant, Newborn, Bartter Syndrome diagnosis, Bartter Syndrome genetics, Gitelman Syndrome diagnosis, Gitelman Syndrome genetics, Premature Birth, Renal Insufficiency, Chronic
Abstract

Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies, whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. Genotype-phenotype correlations have important implications in defining kidney and global outcomes. The aim of our study was to assess the diagnostic rate of whole-exome sequencing (WES) coupled with a bioinformatic analysis of copy number variations in a population of 63 patients with BS and GS from a single institution, and to explore genotype-phenotype correlations. We obtained a diagnostic yield of 86% (54/63 patients), allowing disease reclassification in about 14% of patients. Although some clinical and laboratory features were more commonly reported in patients with BS or GS, a significant overlap does exist, and age at onset, preterm birth, gestational age and nephro-calcinosis are frequently misleading. Finally, chronic kidney disease (CKD) occurs in about 30% of patients with BS or GS, suggesting that the long-term prognosis can be unfavorable. In our cohort the features associated with CKD were lower gestational age at birth and a molecular diagnosis of BS, especially BS type 1. The results of our study demonstrate that WES is useful in dealing with the phenotypic heterogeneity of these disorders, improving differential diagnosis and genotype-phenotype correlation.

Published
2022
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50. More dissimilarities than affinities between DNAJB11-PKD and ADPKD.

Author

Pisani I, Allinovi M, Palazzo V, Zanelli P, Gentile M, Farina MT, Giuliotti S, Cravedi P, Delsante M, Maggiore U, Fiaccadori E, and Manenti L

Abstract

Background: Polycystic kidney diseases (PKD) are an important cause of chronic kidney disease (CKD). Autosomal dominant polycystic kidney disease (ADPKD) due to PKD1 or PKD2 mutations is the most common form, but other genes can be responsible for ADPKD and its phenocopies. Among them, a form of atypical ADPKD caused by DNAJB11 mutations (DNAJB11-PKD) has been recently described., Methods: We retrospectively recruited a cohort of 27 patients from six different families sharing common ancestries and harboring the same DNAJB11 mutation (c.100C>T, p.Arg34*) and we compared it with a cohort of 42 typical ADPKD patients., Results: DNAJB11-PKD patients show small/normal-sized kidneys, with significantly smaller cysts and a slower progression to end-stage kidney disease (ESKD) than ADPKD patients. In the DNAJB11-PKD cohort, the cystic phenotype could not be detected by ultrasound in about half of the patients, but all cases with available computed tomography/magnetic resonance scans displayed cysts. Clinically, DNAJB11-PKD patients displayed proteinuria (mostly albuminuria). Compared with ADPKD, DNAJB11-PKD patients were older and had a higher prevalence of type 2 diabetes mellitus (19% versus 0%; P  = 0.007) and nephrolithiasis (62% versus 29%; P  = 0.01), whereas the prevalence of cardiac valvular defects was lower (4% versus 51%; P < 0.001)., Conclusions: Overall, clinical features of DNAJB11-PKD were more subtle compared with those of ADPKD. DNAJB11-PKD shows a unique renal and extrarenal phenotype, clinical presentation and natural history. Therefore our data support that this genetic disease is classified separately from ADPKD., (© The Author(s) 2022. Published by Oxford University Press on behalf of the ERA.)

Published
2022
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