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1,392 results on '"De Giorgio, Roberto"'

101. Role of Intracellular Pulmonary Pathogens during SARS-CoV-2 Infection in the First Pandemic Wave of COVID-19: Clinical and Prognostic Significance in a Case Series of 1200 Patients

Author

Guarino, Matteo, primary, Perna, Benedetta, additional, Cuoghi, Francesca, additional, Spampinato, Michele Domenico, additional, Cesaro, Alice Eleonora, additional, Manza, Francesca, additional, Pretula, Adriana, additional, Grilli, Anastasio, additional, Maritati, Martina, additional, Caio, Giacomo, additional, Carnevale, Aldo, additional, Flacco, Maria Elena, additional, De Giorgio, Roberto, additional, and Contini, Carlo, additional

Published
2022
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102. Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant

Author

Boschetti, Elisa, primary, Caporali, Leonardo, additional, D’Angelo, Roberto, additional, Malagelada, Carolina, additional, Accarino, Anna, additional, Dotti, Maria Teresa, additional, Costa, Roberta, additional, Cenacchi, Giovanna, additional, Pironi, Loris, additional, Rinaldi, Rita, additional, Stanghellini, Vincenzo, additional, Ratti, Stefano, additional, Manzoli, Lucia, additional, Carelli, Valerio, additional, and De Giorgio, Roberto, additional

Published
2022
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103. Osteoporosis in Celiac Disease: An Update

Author

Lungaro, Lisa, primary, Manza, Francesca, additional, Costanzini, Anna, additional, caputo, fabio, additional, Zoli, Giorgio, additional, Volta, Umberto, additional, De Giorgio, Roberto, additional, and Caio, Giacomo, additional

Published
2022
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104. Advanced Molecular and Immunological Diagnostic Methods to Detect SARS-CoV-2 Infection

Author

Rotondo, John Charles, primary, Martini, Fernanda, additional, Maritati, Martina, additional, Caselli, Elisabetta, additional, Gallenga, Carla Enrica, additional, Guarino, Matteo, additional, De Giorgio, Roberto, additional, Mazziotta, Chiara, additional, Tramarin, Maria Letizia, additional, Badiale, Giada, additional, Tognon, Mauro, additional, and Contini, Carlo, additional

Published
2022
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105. Efficacy and safety of capsule endoscopy in octogenarian patients: a retrospective study

Author

PEZZOLI, Alessandro, primary, GUARINO, Matteo, additional, FUSETTI, Nadia, additional, PIZZO, Elena, additional, SIMONI, Marzia, additional, SIMONE, Loredana, additional, CIFALÀ, Viviana, additional, SOLIMANDO, Riccardo, additional, PERNA, Benedetta, additional, TESTINO, Gianni, additional, CAIO, Giacomo, additional, LUNGARO, Lisa, additional, CAPUTO, Fabio, additional, ZOLI, Giorgio, additional, MERIGHI, Alberto, additional, and DE GIORGIO, Roberto, additional

Published
2022
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107. Subcutaneous Emphysema as a Life-Threatening Complication of Metastatic Renal Cancer: A Case Report

Author

GAMBUTI, EDOARDO, ALFANO, FRANCO, FABBIAN, FABIO, PERNA, BENEDETTA, GUARINO, MATTEO, and DE GIORGIO, ROBERTO

Subjects
metastatic clear cell renal cancer, subcutaneous drains, Hydro-pneumothorax, Case Report, subcutaneous emphysema, frail patient
Abstract

Subcutaneous emphysema (SE) could present as an emergency situation requiring appropriate management because of possible serious complications. While the diagnosis can be well established, its classification and treatment are not yet standardized. Herein we report the case of SE occurred in a young man after positioning of a thorax drainage because of a hydro-pneumothorax developed as a consequence of pulmonary metastases from clear cell renal carcinoma. Since there are no data correlating anatomo-clinical categorization with outcome and treatment of patients with SE, a "tailored- treatment" may be considered.

Published
2021

108. Beware the wrong way! A report on gastrografin inhalation

Author

Guarino Matteo, Gambuti Edoardo, De Giorgio Roberto, Perna Benedetta, and Alfano Franco

Subjects
medicine.medical_specialty, Inhalation, business.industry, Medicine, business, Intensive care medicine
Published
2021

110. Restoration of [Na.sup.+]/[H.sup.+] exchanger NHE3-containing macrocomplexes ameliorates diabetes-associated fluid loss

Author

He, Peijian, Zhao, Luqing, Zhu, Lixin, Weinman, Edward J., De Giorgio, Roberto, Koval, Michael, Srinivasan, Shanthi, and Yun, C. Chris

Subjects
Inositol, Diabetes, Diarrhea, Health care industry
Abstract

Diarrhea is one of the troublesome complications of diabetes, and the underlying causes of this problem are complex. Here, we investigated whether altered electrolyte transport contributes to diabetic diarrhea. We found that the expression of [Na.sup.+]/[H.sup.+] exchanger NHE3 and several scaffold proteins, including NHE3 regulatory factors (NHERFs), inositol trisphosphate ([IP.sub.3]) receptor-binding protein released with [IP.sub.3] (IRBIT), and ezrin, was decreased in the intestinal brush border membrane (BBM) of mice with streptozotocin-induced diabetes. Treatment of diabetic mice with insulin restored intestinal NHE3 activity and fluid absorption. Molecular analysis revealed that NHE3, NHERF1, IRBIT, and ezrin form macrocomplexes, which are perturbed under diabetic conditions, and insulin administration reconstituted these macrocomplexes and restored NHE3 expression in the BBM. Silencing of NHERF1 or IRBIT prevented NHE3 trafficking to the BBM and insulin-dependent NHE3 activation. IRBIT facilitated the interaction of NHE3 with NHERF1 via protein kinase D2-dependent phosphorylation. Insulin stimulated ezrin phosphorylation, which enhanced the interaction of ezrin with NHERF1, IRBIT, and NHE3. Additionally, oral administration of lysophosphatidic acid (LPA) increased NHE3 activity and fluid absorption in diabetic mice via an 120 insulin-independent pathway. Together, these findings indicate the importance of NHE3 in diabetic diarrhea and suggest LPA administration as a potential therapeutic strategy for management of diabetic diarrhea., Introduction Gastrointestinal complications, including gastroparesis, diarrhea, constipation, and fecal inconsistence, are common to patients with diabetes mellitus (DM). Diabetic diarrhea attains clinical significance because of its severity and refractory nature. [...]

Published
2015
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112. The role of serology in the diagnosis of coeliac disease.

Author

Volta, Umberto, Bai, Julio Cesar, and De Giorgio, Roberto

Subjects
CELIAC disease diagnosis, BIOMARKERS, IMMUNOGLOBULINS, BIOPSY, SEROLOGY, MEDICAL screening, SENSITIVITY & specificity (Statistics)
Abstract

Serology has significantly revolutionized the knowledge of celiac disease (CD), leading to the identification of unsuspected patients in at-risk CD groups, thereby increasing the number of CD diagnoses compared to the pre-screening era. Several markers for CD with a progressive diagnostic accuracy have been identified over the years, but only three of them, i.e. anti-tissue transglutaminase (antitTG), anti-endomysial (EmA) and anti-deamidated gliadin antibodies (DGP) are currently assessed in the daily clinical practice. A thorough review of the literature identified 44 original studies published between 1998 to 2022 for a total of 5098 pediatric and adult CD patients (without selective IgA deficiency) and 11930 disease controls. The results highlighted that anti-tTG IgA exhibited a higher sensitivity for CD (93.4%) than EmA IgA (92.8%), DGP IgG (81.8%) and DGP IgA (83.8%). The specificity of EmA IgA (99%) resulted to be higher than those of anti-tTG IgA (95.8%), DGP IgG (96.4%) and DGP IgA (92.1%). In patients with selective IgA deficiency, a condition closely related to CD, serological screening should include one of the three antibodies of IgG class, since anti-tTG, DGP and EmA have a very similar diagnostic accuracy in this clinical setting. According to age, there are two main diagnostic strategies for CD detection. In children, the revised ESPGHAN 2020 guidelines established that CD could be diagnosed in both symptomatic and asymptomatic children by high anti-tTG IgA titers (>10 times the cut-off) and EmA positivity with no need to obtain duodenal biopsy and HLA typing. In adult patients, although high tTG IgA titers (confirmed by EmA IgA positivity) correlate with villous atrophy, an intestinal biopsy is still considered mandatory for confirming CD diagnosis. Currently, a case finding approach in at-risk groups is preferred to mass screening for CD detection. [ABSTRACT FROM AUTHOR]

Published
2023
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113. Gastroduodenal Motor Disorders

Author

Stanghellini, Vincenzo, De Giorgio, Roberto, Barbara, Giovanni, Salvioli, Beatrice, Corinaldesi, Roberto, Fujita, Rikiya, editor, and Nakazawa, Saburo, editor

Published
1999
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117. Graded pneumatic dilation in subtype I and II achalasia: long-term experience in a single center

Author

Torresan, Francesco Cortellini, Fabio Azzaroli, Francesco and Ioannou, Alexandros Mularoni, Cecilia Shoshan, Dikla and Mandolesi, Daniele De Giorgio, Roberto Karamanolis, George and Bazzoli, Franco

Subjects
digestive system diseases
Abstract

Background The efficacy of pneumatic dilation (PD) in the management of achalasia has yielded variable results. The availability of high-resolution manometry led to the identification of 3 clinically relevant subtypes of achalasia, revealing the poor efficacy of PD in subtype III. Furthermore, PD showed a lower response rate in patients with subtype III compared to laparoscopic Heller myotomy and peroral endoscopic myotomy. This study aimed to investigate the short- and long-term efficacy, safety profile and side effects of PD with a “graded approach” in subtypes I and II achalasia. Methods We enrolled 141 patients (male 67, mean age=66 +/- 16.26 years) with achalasia (n=27 subtype I, n=74 subtype II and n=40 subtype III) between January 2010 and July 2020 at St. Orsola University Hospital, Bologna, Italy. We analyzed the data of patients with subtypes I and II, who underwent a graded-protocol PD. Short- and long-term clinical efficacy, complications and gastroesophageal reflux disease (GERD) were recorded. Results One month after graded protocol PD, 100% subtype I and 96.2% subtype II achalasia patients showed clinical remission. The PD procedure was completed without major complications in all patients. In the long-term follow up (median time: 56 months), 95.5% subtype I and 90% subtype II achalasia patients had an Eckardt score

Published
2022

119. Tu1692 MECHANISTIC ANALYSIS OF FACTORS ASSOCIATED WITH POST-COVID-19 IBS OCCURRENCE

Author

Hod, Keren, Marasco, Giovanni, Cremon, Cesare, Barbaro, M. Raffaella, Kagramanova, Anna, Bordin, Dimitry, Drug, Vasile, Fusaroli, Pietro, Mohamed, Salem Y., Ricci, Chiara, Bellini, Massimo, Rahman, Mohammed M., Melcarne, Luigi, Santos, Javier, Bor, Serhat, Yapali, Suna, Lukic, Snezana, Trajkovska, Meri, Dumitrascu, Dan Lucian, Pietrangelo, Antonello, Simren, Magnus, Ghoshal, Uday C., Kolokolnikova, Olga, Colecchia, Antonio, Serra, Jordi, Maconi, Giovanni, De Giorgio, Roberto, Danese, Silvio, Portincasa, Piero, Sabatino, Antonio Di, Maggio, Marcello Giuseppe, Philippou, Elena, Lee, Yeong Yeh, Stanghellini, Vincenzo, and Barbara, Giovanni

Published
2024
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122. Su1885 THE IMPACT OF UNNECESSARY GLUTEN-FREE DIET ON GUT MICROBIOTA

Author

Manza, Francesca, Lungaro, Lisa, Costanzini, Anna, Segata, Nicola, Pinto, Federica, Puncochar, Michal, Asnicar, Francesco, Armanini, Federica, Carroccio, Antonio, Seidita, Aurelio, Mansueto, Pasquale, Calabrò, Antonino S., Cavalieri, Duccio, Barbara, Giovanni, Stanghellini, Vincenzo, Volta, Umberto, De Giorgio, Roberto, and Caio, Giacomo Pietro Ismaele

Published
2024
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128. Effetti ergogenici della caffeina sulle prestazioni fisiche funzionali e sulle abilità cognitive.

Author

De Giorgio, Roberto

Subjects
*PHYSICAL mobility, *SCIENTIFIC knowledge, *CENTRAL nervous system stimulants, *SPORTS nutrition, *ENERGY drinks
Abstract

Over the past two decades, there have been no major changes in the recommendations for caffeine supplementation. However, scientific knowledge has been significant in recent times, such that the state of the art needs to be updated. Sports foods and supplements can play a significant role in the sports nutrition plans of high-level athletes. It has been found that taking specific dietary supplements can have ergogenic and performance-enhancing effects. An example of this is caffeine, which is considered safe up to 400 mg per day when from all food sources as part of a healthy, balanced diet, according to EFSA, the European Food Safety Authority (1). A typical cup of coffee provides about 75-100 mg of caffeine. This study aims to confirm that caffeine (1,3,7-trimethylxanthine), a substance found in beverages such as coffee, tea and energy drinks, can be a valuable ergogenic support for subjects engaged in physical activity. In this context, this literature review outlines the current framework of knowledge. To achieve and maintain the high levels of performance required in sporting events, planning proper sports diet supplementation can only strengthen and revitalize athletes after strenuous training. The relationship between the uses and effects of caffeine in power and endurance sports has been demonstrated. Meanwhile, the effects of caffeine intake on the state of alertness have been evaluated in the military as well. For example, it may be the case that significant physical performance is required during military training and tactical operations, such as marching over rough terrain, sometimes with loads of up to 40 kg. In addition, operational situations with sleep reduction or deprivation may occur. Recently, several studies indicate that genetic background, diet, gender identity, and hormonal status may influence the absorption, metabolism, and physiological and functional effects of caffeine. Ultimately, dietary supplementation with caffeine may be an effective strategy to support cognitive and physical performance in competitive and recreational sports, as well as to maintain an adequate state of alertness. [ABSTRACT FROM AUTHOR]

Published
2023

130. Paraneoplastic Syndrome

Author

Ursini, Francesco, Caio, Giacomo, Volta, Umberto, Manfredini,Roberto, De Giorgio, Roberto, Ursini Francesco, Giacomo Caio, Umberto Volta, Roberto Manfredini, Roberto De Giorgio, Ursini, Francesco, Caio, Giacomo, Volta, Umberto, Manfredini,Roberto, and De Giorgio, Roberto

Subjects
Paraneoplastic syndrome, NA, NO
Abstract

Paraneoplastic syndromes encompass a heterogeneous group of conditions characterized by a wide range of signs and symptoms not directly attributable to tumor invasion or compression. Patients with paraneoplastic syndromes are usually challenging because of various aspecific signs (e.g. fever, nocturnal sweat, anorexia and cachexia) as well as the occurrence of complex manifestations involving various organs /systems, such as the skin (e.g., achantosis nigricans), endocrinological (multiple autoimmune endocrinopathy), gastrointestinal (severe dysmotility), hematological (polyglobulia) neurological (encephalomyelitis, limbic encephalitis, subacute cerebellar degeneration), and connective tissue (i.e. an array of rheumatological disorders) (Pelosof and Gerber, 2010). Current knowledge indicates that the best defined paraneoplastic syndromes occur as a result of two major pathophysiological mechanisms: (1) the cellular secretion of bioactive peptides/hormones by the tumor; (2) the immune cross-reactivity between tumor and normal host tissues. Notably, most paraneoplastic syndromes may herald cancer diagnosis which is delayed of months since the onset of symptoms/signs (Sillevis Smitt et al., 2002; Lucchinetti et al., 1998). For this reason, their early recognition is of key importance in order to guide to the detection of an otherwise clinically occult tumor at an early and, hopefully, treatable stage. Overall, about 8% of any (either solid or hematological) cancer may develop a paraneoplastic syndrome. However, no exact data exist on the epidemiology of these conditions (Pelosof and Gerber, 2010) and their incidence is significantly higher in selected neoplasms, such as small cell lung cancer (SCLC) (Kanaji et al., 2014), renal cell carcinoma (Gold et al., 1996), hepatocellular carcinoma (Chang et al., 2013), leukemia/lymphoma (Graus et al., 2014), breast cancer (Fanous and Dillon, 2015), and ovarian cancer (Ashour et al., 1997) (Table 1).

Published
2020

131. CB 1 Signaling in Forebrain and Sympathetic Neurons Is a Key Determinant of Endocannabinoid Actions on Energy Balance

Author

Quarta, Carmelo, Bellocchio, Luigi, Mancini, Giacomo, Mazza, Roberta, Cervino, Cristina, Braulke, Luzie J., Fekete, Csaba, Latorre, Rocco, Nanni, Cristina, Bucci, Marco, Clemens, Laura E., Heldmaier, Gerhard, Watanabe, Masahiko, Leste-Lassere, Thierry, Maitre, Marlène, Tedesco, Laura, Fanelli, Flaminia, Reuss, Stefan, Klaus, Susanne, Srivastava, Raj Kamal, Monory, Krisztina, Valerio, Alessandra, Grandis, Annamaria, De Giorgio, Roberto, Pasquali, Renato, Nisoli, Enzo, Cota, Daniela, Lutz, Beat, Marsicano, Giovanni, and Pagotto, Uberto

Published
2010
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133. Polypharmacy in older people: lessons from 10 years of experience with the REPOSI register

Author

Mannucci, Pier Mannuccio, Nobili, Alessandro, Pasina, Luca, Tettamanti, Mauro, Franchi, Carlotta, Corrao, Salvatore, Marengoni, Alessandra, Salerno, Francesco, Cesari, Matteo, Perticone, Francesco, Licata, Giuseppe, Violi, Francesco, Corazza, Gino Roberto, Cortesi, Laura, Ardoino, Ilaria, Prisco, Domenico, Silvestri, Elena, Cenci, Caterina, Emmi, Giacomo, Biolo, Gianni, Zanetti, Michela, Guadagni, Martina, Zaccari, Michele, Vanoli, Massimo, Grignani, Giulia, Pulixi, Edoardo Alessandro, Bernardi, Mauro, Bassi, Silvia Li, Santi, Luca, Zaccherini, Giacomo, Mannarino, Elmo, Lupattelli, Graziana, Bianconi, Vanessa, Paciullo, Francesco, Nuti, Ranuccio, Valenti, Roberto, Ruvio, Martina, Cappelli, Silvia, Palazzuoli, Alberto, Olivieri, Oliviero, Girelli, Domenico, Matteazzi, Thomas, Barbagallo, Mario, Dominguez, Ligia, Cocita, Floriana, Beneduce, Vincenza, Plances, Lidia, Zoli, Marco, Lazzari, Ilaria, Brunori, Mattia, Pasini, Franco Laghi, Capecchi, Pier Leopoldo, Palasciano, Giuseppe, Modeo, Maria Ester, Di Gennaro, Carla, Cappellini, Maria Domenica, Maira, Diletta, Di Stefano, Valeria, Fabio, Giovanna, Seghezzi, Sonia, Mancarella, Marta, Rossi, Paolo Dionigi, Damanti, Sarah, Clerici, Marta, Conti, Federica, Miceli, Emanuela, Lenti, Marco Vincenzo, Pisati, Martina, Dominioni, Costanza Caccia, Murialdo, Giovanni, Marra, Alessio, Cattaneo, Federico, Secchi, Maria Beatrice, Ghelfi, Davide, Anastasio, Luigi, Sofia, Lucia, Carbone, Maria, Cipollone, Francesco, Guagnano, Maria Teresa, Angelucci, Ermanno, Valeriani, Emanuele, Mancuso, Gerardo, Calipari, Daniela, Bartone, Mosè, Delitala, Giuseppe, Berria, Maria, Muscaritoli, Maurizio, Molfino, Alessio, Petrillo, Enrico, Zuccalà, Giuseppe, D’Aurizio, Gabriella, Romanelli, Giuseppe, Zucchelli, Alberto, Picardi, Antonio, Gentilucci, Umberto Vespasiani, Gallo, Paolo, Dell’Unto, Chiara, Annoni, Giorgio, Corsi, Maurizio, Bellelli, Giuseppe, Zazzetta, Sara, Mazzola, Paolo, Szabo, Hajnalka, Bonfanti, Alessandra, Arturi, Franco, Succurro, Elena, Rubino, Mariangela, Serra, Maria Grazia, Bleve, Maria Antonietta, Gasbarrone, Laura, Sajeva, Maria Rosaria, Brucato, Antonio, Ghidoni, Silvia, Fabris, Fabrizio, Bertozzi, Irene, Bogoni, Giulia, Rabuini, Maria Victoria, Cosi, Elisabetta, Manfredini, Roberto, Fabbian, Fabio, Boari, Benedetta, De Giorgi, Alfredo, Tiseo, Ruana, Paolisso, Giuseppe, Rizzo, Maria Rosaria, Borghi, Claudio, Strocchi, Enrico, De Sando, Valeria, Pareo, Ilenia, Sabbà, Carlo, Vella, Francesco Saverio, Suppressa, Patrizia, Agosti, Pasquale, Schilardi, Andrea, Loparco, Francesca, Fenoglio, Luigi, Bracco, Christian, Giraudo, Alessia Valentina, Fargion, Silvia, Periti, Giulia, Porzio, Marianna, Tiraboschi, Slivia, Peyvandi, Flora, Rossio, Raffaella, Ferrari, Barbara, Colombo, Giulia, Monzani, Valter, Savojardo, Valeria, Folli, Christian, Ceriani, Giuliana, Pallini, Giada, Dallegri, Franco, Ottonello, Luciano, Liberale, Luca, Caserza, Lara, Salam, Kassem, Liberato, Nicola Lucio, Tognin, Tiziana, Bianchi, Giovanni Battista, Giaquinto, Sabrina, Purrello, Francesco, Di Pino, Antonino, Piro, Salvatore, Rozzini, Renzo, Falanga, Lina, Spazzini, Elena, Ferrandina, Camillo, Montrucchio, Giuseppe, Petitti, Paolo, Salmi, Raffaella, Gaudenzi, Piergiorgio, Perri, Ludovica, Landolfi, Raffaele, Montalto, Massimo, Mirijello, Antonio, Guasti, Luigina, Castiglioni, Luana, Maresca, Andrea, Squizzato, Alessandro, Molaro, Marta, Grossi, Alessandra, Bertolotti, Marco, Mussi, Chiara, Libbra, Maria Vittoria, Dondi, Giulia, Pellegrini, Elisa, Carulli, Lucia, COLANGELO, LIDIA, Falbo, Tania, Stanghellini, Vincenzo, De Giorgio, Roberto, Ruggeri, Eugenio, del Vecchio, Sara, Salvi, Andrea, LEONARDI, ROBERTO, Damiani, Giampaolo, Gabrielli, Armando, Capeci, William, Mattioli, Massimo, Martino, Giuseppe Pio, Biondi, Lorenzo, Pettinari, Pietro, Ghio, Riccardo, Col, Anna Dal, Minisola, Salvatore, Colangelo, Luciano, Afeltra, Antonella, Marigliano, Benedetta, Pipita, Maria Elena, Castellino, Pietro, Blanco, Julien, Zanoli, Luca, Pignataro, Samuele, Saracco, Valter, Fogliati, Marisa, Bussolino, Carlo, Mete, Francesca, Gino, Miriam, Cittadini, Antonio, Vigorito, Carlo, Arcopinto, Michele, Salzano, Andrea, Bobbio, Emanuele, Marra, Alberto Maria, Sirico, Domenico, Moreo, Guido, Gasparini, Francesca, Prolo, Silvia, Pina, Gloria, Ballestrero, Alberto, Ferrando, Fabio, Berra, Sergio, Dassi, Simonetta, Nava, Maria Cristina, Graziella, Bruno, Baldassarre, Stefano, Fragapani, Salvatore, Gruden, Gabriella, Galanti, Giorgio, Mascherini, Gabriele, Petri, Cristian, Stefani, Laura, Girino, Margherita, Piccinelli, Valeria, Nasso, Francesco, Gioffrè, Vincenza, DI PASQUALE, MARIA GRAZIA, Scattolin, Giuseppe, Martinelli, Sergio, Turrin, Mauro, Sechi, Leonardo, Catena, Cristina, Colussi, Gianluca, Passariello, Nicola, Rinaldi, Luca, Berti, Franco, Famularo, Giuseppe, Patrizia, Tarsitani, Castello, Roberto, Pasino, Michela, Ceda, Gian Paolo, Maggio, Marcello Giuseppe, Morganti, Simonetta, Artoni, Andrea, Del Giacco, Stefano, Firinu, Davide, Losa, Francesca, Paoletti, Giovanni, Montalto, Giuseppe, Licata, Anna, Malerba, Valentina, Antonino, Lasco, Basile, Giorgio, Antonino, Catalano, Malatino, Lorenzo, Stancanelli, Benedetta, Terranova, Valentina, Di Marca, Salvatore, Mecocci, Patrizia, Ruggiero, Carmelinda, Boccardi, Virginia, Meschi, Tiziana, Lauretani, Fulvio, Ticinesi, Andrea, Minuz, Pietro, Fondrieschi, Luigi, Pirisi, Mario, Fra, Gian Paolo, Sola, Daniele, Porta, Massimo, Riva, Piero, Quadri, Roberto, Scanzi, Giorgio, Mengoli, Caterina, Provini, Stella, Ricevuti, Laura, Simeone, Emilio, Scurti, Rosa, Tolloso, Fabio, Tarquini, Roberto, Valoriani, Alice, Dolenti, Silvia, Vannini, Giulia, Tedeschi, Alberto, Trotta, Lucia, Volpi, Riccardo, Bocchi, Pietro, Vignali, Alessandro, Harari, Sergio, Lonati, Chiara, Cattaneo, Mara, Nieves, Ramirez Duque, Alberto, Muela Molinero, Pedro, Abad Requejo, Vanessa, Lopez Pelaez, Lara, Tamargo, Xavier, Corbella Viros, Francesc, Formiga, Jesus, Diez Manglano, Esperanza, Bejarano Tello, Esther, Del Corral Behamonte, Maria, Sevil Puras, Romero, Manuel, Blanca, Pinilla Llorente, Cristina, Lopez Gonzalez-Cobos, Victoria, Villalba Garcia M., Saez, Lopez, Bosco, Juan, Susana, Sanz Baena, Marta, Arroyo Gallego, Concepcion, Gonzalez Becerra, Antonio, Fernandez Moyano, Hernandez, Mercedes Gomez, Borrego, Manuel Poyato, Raquel, Pacheco Cuadros, Florencia, Perez Rojas, Beatriz, Garcia Olid, Sara, Carrascosa Garcia, Alfonso, Gonzalez-Cruz Cervellera, Marta, Peinado Martinez, Garcia, Sara Carrascosa, Alberto, Ruiz Cantero, Antonio, Albarracín Arraigosa, Montserrat, Godoy Guerrero, Ángel, Barón Ramos Miguel, Manuel, Machin Jose, Ignacio, Novo Veleiro, Lucía, Alvela Suarez, Alfonso, Lopez, David, Rubal Bran, Iria, Iñiguez Vazquez, Monica, Rios Prego, Mannucci, Pier Mannuccio, Nobili, Alessandro, Pasina, Luca, Tettamanti, Mauro, Franchi, Carlotta, Corrao, Salvatore, Marengoni, Alessandra, Salerno, Francesco, Cesari, Matteo, Perticone, Francesco, Licata, Giuseppe, Violi, Francesco, Corazza, Gino Roberto, Cortesi, Laura, Ardoino, Ilaria, Prisco, Domenico, Silvestri, Elena, Cenci, Caterina, Emmi, Giacomo, Biolo, Gianni, Zanetti, Michela, Guadagni, Martina, Zaccari, Michele, Vanoli, Massimo, Grignani, Giulia, Pulixi, Edoardo Alessandro, Bernardi, Mauro, Bassi, Silvia Li, Santi, Luca, Zaccherini, Giacomo, Mannarino, Elmo, Lupattelli, Graziana, Bianconi, Vanessa, Paciullo, Francesco, Nuti, Ranuccio, Valenti, Roberto, Ruvio, Martina, Cappelli, Silvia, Palazzuoli, Alberto, Olivieri, Oliviero, Girelli, Domenico, Matteazzi, Thoma, Barbagallo, Mario, Dominguez, Ligia, Cocita, Floriana, Beneduce, Vincenza, Plances, Lidia, Zoli, Marco, Lazzari, Ilaria, Brunori, Mattia, Pasini, Franco Laghi, Capecchi, Pier Leopoldo, Palasciano, Giuseppe, Modeo, Maria Ester, Di Gennaro, Carla, Cappellini, Maria Domenica, Maira, Diletta, Di Stefano, Valeria, Fabio, Giovanna, Seghezzi, Sonia, Mancarella, Marta, Rossi, Paolo Dionigi, Damanti, Sarah, Clerici, Marta, Conti, Federica, Miceli, Emanuela, Lenti, Marco Vincenzo, Pisati, Martina, Dominioni, Costanza Caccia, Murialdo, Giovanni, Marra, Alessio, Cattaneo, Federico, Secchi, Maria Beatrice, Ghelfi, Davide, Anastasio, Luigi, Sofia, Lucia, Carbone, Maria, Cipollone, Francesco, Guagnano, Maria Teresa, Angelucci, Ermanno, Valeriani, Emanuele, Mancuso, Gerardo, Calipari, Daniela, Bartone, Mosè, Delitala, Giuseppe, Berria, Maria, Muscaritoli, Maurizio, Molfino, Alessio, Petrillo, Enrico, Zuccalà, Giuseppe, D’Aurizio, Gabriella, Romanelli, Giuseppe, Zucchelli, Alberto, Picardi, Antonio, Gentilucci, Umberto Vespasiani, Gallo, Paolo, Dell’Unto, Chiara, Annoni, Giorgio, Corsi, Maurizio, Bellelli, Giuseppe, Zazzetta, Sara, Mazzola, Paolo, Szabo, Hajnalka, Bonfanti, Alessandra, Arturi, Franco, Succurro, Elena, Rubino, Mariangela, Serra, Maria Grazia, Bleve, Maria Antonietta, Gasbarrone, Laura, Sajeva, Maria Rosaria, Brucato, Antonio, Ghidoni, Silvia, Fabris, Fabrizio, Bertozzi, Irene, Bogoni, Giulia, Rabuini, Maria Victoria, Cosi, Elisabetta, Manfredini, Roberto, Fabbian, Fabio, Boari, Benedetta, De Giorgi, Alfredo, Tiseo, Ruana, Paolisso, Giuseppe, Rizzo, Maria Rosaria, Borghi, Claudio, Strocchi, Enrico, De Sando, Valeria, Pareo, Ilenia, Sabbà, Carlo, Vella, Francesco Saverio, Suppressa, Patrizia, Agosti, Pasquale, Schilardi, Andrea, Loparco, Francesca, Fenoglio, Luigi, Bracco, Christian, Giraudo, Alessia Valentina, Fargion, Silvia, Periti, Giulia, Porzio, Marianna, Tiraboschi, Slivia, Peyvandi, Flora, Rossio, Raffaella, Ferrari, Barbara, Colombo, Giulia, Monzani, Valter, Savojardo, Valeria, Folli, Christian, Ceriani, Giuliana, Pallini, Giada, Dallegri, Franco, Ottonello, Luciano, Liberale, Luca, Caserza, Lara, Salam, Kassem, Liberato, Nicola Lucio, Tognin, Tiziana, Bianchi, Giovanni Battista, Giaquinto, Sabrina, Purrello, Francesco, Di Pino, Antonino, Piro, Salvatore, Rozzini, Renzo, Falanga, Lina, Spazzini, Elena, Ferrandina, Camillo, Montrucchio, Giuseppe, Petitti, Paolo, Salmi, Raffaella, Gaudenzi, Piergiorgio, Perri, Ludovica, Landolfi, Raffaele, Montalto, Massimo, Mirijello, Antonio, Guasti, Luigina, Castiglioni, Luana, Maresca, Andrea, Squizzato, Alessandro, Molaro, Marta, Grossi, Alessandra, Bertolotti, Marco, Mussi, Chiara, Libbra, Maria Vittoria, Dondi, Giulia, Pellegrini, Elisa, Carulli, Lucia, Colangelo, Lidia, Falbo, Tania, Stanghellini, Vincenzo, De Giorgio, Roberto, Ruggeri, Eugenio, del Vecchio, Sara, Salvi, Andrea, Leonardi, Roberto, Damiani, Giampaolo, Gabrielli, Armando, Capeci, William, Mattioli, Massimo, Martino, Giuseppe Pio, Biondi, Lorenzo, Pettinari, Pietro, Ghio, Riccardo, Col, Anna Dal, Minisola, Salvatore, Colangelo, Luciano, Afeltra, Antonella, Marigliano, Benedetta, Pipita, Maria Elena, Castellino, Pietro, Blanco, Julien, Zanoli, Luca, Pignataro, Samuele, Saracco, Valter, Fogliati, Marisa, Bussolino, Carlo, Mete, Francesca, Gino, Miriam, Cittadini, Antonio, Vigorito, Carlo, Arcopinto, Michele, Salzano, Andrea, Bobbio, Emanuele, Marra, Alberto Maria, Sirico, Domenico, Moreo, Guido, Gasparini, Francesca, Prolo, Silvia, Pina, Gloria, Ballestrero, Alberto, Ferrando, Fabio, Berra, Sergio, Dassi, Simonetta, Nava, Maria Cristina, Graziella, Bruno, Baldassarre, Stefano, Fragapani, Salvatore, Gruden, Gabriella, Galanti, Giorgio, Mascherini, Gabriele, Petri, Cristian, Stefani, Laura, Girino, Margherita, Piccinelli, Valeria, Nasso, Francesco, Gioffrè, Vincenza, Pasquale, Maria, Scattolin, Giuseppe, Martinelli, Sergio, Turrin, Mauro, Sechi, Leonardo, Catena, Cristina, Colussi, Gianluca, Passariello, Nicola, Rinaldi, Luca, Berti, Franco, Famularo, Giuseppe, Patrizia, Tarsitani, Castello, Roberto, Pasino, Michela, Ceda, Gian Paolo, Maggio, Marcello Giuseppe, Morganti, Simonetta, Artoni, Andrea, Del Giacco, Stefano, Firinu, Davide, Losa, Francesca, Paoletti, Giovanni, Montalto, Giuseppe, Licata, Anna, Malerba, Valentina, Antonino, Lasco, Basile, Giorgio, Antonino, Catalano, Malatino, Lorenzo, Stancanelli, Benedetta, Terranova, Valentina, Di Marca, Salvatore, Mecocci, Patrizia, Ruggiero, Carmelinda, Boccardi, Virginia, Meschi, Tiziana, Lauretani, Fulvio, Ticinesi, Andrea, Minuz, Pietro, Fondrieschi, Luigi, Pirisi, Mario, Fra, Gian Paolo, Sola, Daniele, Porta, Massimo, Riva, Piero, Quadri, Roberto, Scanzi, Giorgio, Mengoli, Caterina, Provini, Stella, Ricevuti, Laura, Simeone, Emilio, Scurti, Rosa, Tolloso, Fabio, Tarquini, Roberto, Valoriani, Alice, Dolenti, Silvia, Vannini, Giulia, Tedeschi, Alberto, Trotta, Lucia, Volpi, Riccardo, Bocchi, Pietro, Vignali, Alessandro, Harari, Sergio, Lonati, Chiara, Cattaneo, Mara, Nieves, Ramirez Duque, Alberto, Muela Molinero, Pedro, Abad Requejo, Vanessa, Lopez Pelaez, Lara, Tamargo, Xavier, Corbella Viro, Francesc, Formiga, Jesus, Diez Manglano, Esperanza, Bejarano Tello, Esther, Del Corral Behamonte, Maria, Sevil Pura, Romero, Manuel, Blanca, Pinilla Llorente, Cristina, Lopez Gonzalez-Cobo, Victoria, Villalba Garcia M., Saez, Lopez, Bosco, Juan, Susana, Sanz Baena, Marta, Arroyo Gallego, Concepcion, Gonzalez Becerra, Antonio, Fernandez Moyano, Hernandez, Mercedes Gomez, Borrego, Manuel Poyato, Raquel, Pacheco Cuadro, Florencia, Perez Roja, Beatriz, Garcia Olid, Sara, Carrascosa Garcia, Alfonso, Gonzalez-Cruz Cervellera, Marta, Peinado Martinez, Garcia, Sara Carrascosa, Alberto, Ruiz Cantero, Antonio, Albarracín Arraigosa, Montserrat, Godoy Guerrero, Ángel, Barón Ramos Miguel, Manuel, Machin Jose, Ignacio, Novo Veleiro, Lucía, Alvela Suarez, Alfonso, Lopez, David, Rubal Bran, Iria, Iñiguez Vazquez, Monica, Rios Prego, Pier Mannuccio Mannucci, Alessandro Nobili, Luca Pasina, REPOSI Collaborators [.., Gino Roberto Corazza, Elena Silvestri, Mauro Bernardi, Silvia Li Bassi, Luca Santi, Giacomo Zaccherini, Marco Zoli, Ilaria Lazzari, Mattia Brunori, Claudio Borghi, Enrico Strocchi, Valeria De Sando, Ilenia Pareo, Vincenzo Stanghellini, Roberto De Giorgio, Eugenio Ruggeri, Sara del Vecchio, ], Mannucci, P, Nobili, A, Pasina, L, Dominguez Rodriguez, L, Barbagallo, M, Licata, A, Tettamanti, M, Franchi, C, Corrao, S, Marengoni, A, Salerno, F, Cesari, M, Perticone, F, Licata, G, Violi, F, Corazza, G, Cortesi, L, Ardoino, I, Prisco, D, Silvestri, E, Cenci, C, Emmi, G, Biolo, G, Zanetti, M, Guadagni, M, Zaccari, M, Vanoli, M, Grignani, G, Pulixi, E, Bernardi, M, Bassi, S, Santi, L, Zaccherini, G, Mannarino, E, Lupattelli, G, Bianconi, V, Paciullo, F, Nuti, R, Valenti, R, Ruvio, M, Cappelli, S, Palazzuoli, A, Olivieri, O, Girelli, D, Matteazzi, T, Dominguez, L, Cocita, F, Beneduce, V, Plances, L, Zoli, M, Lazzari, I, Brunori, M, Pasini, F, Capecchi, P, Palasciano, G, Modeo, M, di Gennaro, C, Cappellini, M, Maira, D, di Stefano, V, Fabio, G, Seghezzi, S, Mancarella, M, Rossi, P, Damanti, S, Clerici, M, Conti, F, Miceli, E, Lenti, M, Pisati, M, Dominioni, C, Murialdo, G, Marra, A, Cattaneo, F, Secchi, M, Ghelfi, D, Anastasio, L, Sofia, L, Carbone, M, Cipollone, F, Guagnano, M, Angelucci, E, Valeriani, E, Mancuso, G, Calipari, D, Bartone, M, Delitala, G, Berria, M, Muscaritoli, M, Molfino, A, Petrillo, E, Zuccala, G, D'Aurizio, G, Romanelli, G, Zucchelli, A, Picardi, A, Gentilucci, U, Gallo, P, Dell'Unto, C, Annoni, G, Corsi, M, Bellelli, G, Zazzetta, S, Mazzola, P, Szabo, H, Bonfanti, A, Arturi, F, Succurro, E, Rubino, M, Serra, M, Bleve, M, Gasbarrone, L, Sajeva, M, Brucato, A, Ghidoni, S, Fabris, F, Bertozzi, I, Bogoni, G, Rabuini, M, Cosi, E, Manfredini, R, Fabbian, F, Boari, B, de Giorgi, A, Tiseo, R, Paolisso, G, Rizzo, M, Borghi, C, Strocchi, E, de Sando, V, Pareo, I, Sabba, C, Vella, F, Suppressa, P, Agosti, P, Schilardi, A, Loparco, F, Fenoglio, L, Bracco, C, Giraudo, A, Fargion, S, Periti, G, Porzio, M, Tiraboschi, S, Peyvandi, F, Rossio, R, Ferrari, B, Colombo, G, Monzani, V, Savojardo, V, Folli, C, Ceriani, G, Pallini, G, Dallegri, F, Ottonello, L, Liberale, L, Caserza, L, Salam, K, Liberato, N, Tognin, T, Bianchi, G, Giaquinto, S, Purrello, F, di Pino, A, Piro, S, Rozzini, R, Falanga, L, Spazzini, E, Ferrandina, C, Montrucchio, G, Petitti, P, Salmi, R, Gaudenzi, P, Perri, L, Landolfi, R, Montalto, M, Mirijello, A, Guasti, L, Castiglioni, L, Maresca, A, Squizzato, A, Molaro, M, Grossi, A, Bertolotti, M, Mussi, C, Libbra, M, Dondi, G, Pellegrini, E, Carulli, L, Colangelo, L, Falbo, T, Stanghellini, V, De Giorgio, R, Ruggeri, E, del Vecchio, S, Salvi, A, Leonardi, R, Damiani, G, Gabrielli, A, Capeci, W, Mattioli, M, Martino, G, Biondi, L, Pettinari, P, Ghio, R, Col, A, Minisola, S, Afeltra, A, Marigliano, B, Pipita, M, Castellino, P, Blanco, J, Zanoli, L, Pignataro, S, Saracco, V, Fogliati, M, Bussolino, C, Mete, F, Gino, M, Cittadini, A, Vigorito, C, Arcopinto, M, Salzano, A, Bobbio, E, Sirico, D, Moreo, G, Gasparini, F, Prolo, S, Pina, G, Ballestrero, A, Ferrando, F, Berra, S, Dassi, S, Nava, M, Graziella, B, Baldassarre, S, Fragapani, S, Gruden, G, Galanti, G, Mascherini, G, Petri, C, Stefani, L, Girino, M, Piccinelli, V, Nasso, F, Gioffre, V, Pasquale, M, Scattolin, G, Martinelli, S, Turrin, M, Sechi, L, Catena, C, Colussi, G, Passariello, N, Rinaldi, L, Berti, F, Famularo, G, Patrizia, T, Castello, R, Pasino, M, Ceda, G, Maggio, M, Morganti, S, Artoni, A, Giacco, S, Firinu, D, Losa, F, Paoletti, G, Montalto, G, Malerba, V, Antonino, L, Basile, G, Antonino, C, Malatino, L, Stancanelli, B, Terranova, V, di Marca, S, Mecocci, P, Ruggiero, C, Boccardi, V, Meschi, T, Lauretani, F, Ticinesi, A, Minuz, P, Fondrieschi, L, Pirisi, M, Fra, G, Sola, D, Porta, M, Riva, P, Quadri, R, Scanzi, G, Mengoli, C, Provini, S, Ricevuti, L, Simeone, E, Scurti, R, Tolloso, F, Tarquini, R, Valoriani, A, Dolenti, S, Vannini, G, Tedeschi, A, Trotta, L, Volpi, R, Bocchi, P, Vignali, A, Harari, S, Lonati, C, Cattaneo, M, Nieves, R, Alberto, M, Pedro, A, Vanessa, L, Lara, T, Xavier, C, Francesc, F, Jesus, D, Esperanza, B, Esther, D, Maria, S, Romero, M, Blanca, P, Cristina, L, Victoria, V, Saez, L, Bosco, J, Susana, S, Marta, A, Concepcion, G, Antonio, F, Hernandez, M, Borrego, M, Raquel, P, Florencia, P, Beatriz, G, Sara, C, Alfonso, G, Marta, P, Garcia, S, Alberto, R, Antonio, A, Montserrat, G, Angel, B, Manuel, M, Ignacio, N, Lucia, A, Alfonso, L, David, R, Iria, I, Monica, R, DI PASQUALE, MARIA GRAZIA, di Gennaro, Carla, di Stefano, Valeria, de Giorgi, Alfredo, de Sando, Valeria, di Pino, Antonino, Giacco, Stefano Del, and di Marca, Salvatore

Subjects
Male, medicine.medical_specialty, Population ageing, Deprescribing, Inappropriate prescription, Medication reconciliation, Multimorbidity, Polypharmacy, Population, Socio-culturale, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, 80 and over, Internal Medicine, Emergency Medicine, medicine, Deprescribing, Inappropriate prescription, Medication reconciliation, Multimorbidity, Polypharmacy, Humans, Registries, 030212 general & internal medicine, Medical prescription, Adverse effect, education, Aged, Aged, 80 and over, Geriatrics, education.field_of_study, business.industry, Patient Discharge, Hospitalization, Female, Italy, Family medicine, business
Abstract

As a consequence of population aging, we have witnessed in internal medicine hospital wards a progressive shift from a population of in-patients relatively young and mainly affected by a single ailment to one of ever older and more and more complex patients with multiple chronic diseases, followed as out-patients by many different specialists with poor integration andinevitably treated with multiple medications. Polypharmacy (defined as the chronic intake of five or more drugs) is associated with increased risks of drug-drug interactions and related adverse effects, prescription and intake errors, poor compliance, re-hospitalization and mortality. With this background, the Italian Society of Internal Medicine chose to start in 2008 a prospective register called REPOSI (REgistro POliterapie SIMI, Società Italiana di Medicina Interna) in internal medicine and geriatric hospital wards. The country wide register is an ongoing observatory on multimorbidity and polypharmacy in the oldest old, with the goal to improve prescription appropriateness and, thus to avoid potentially inappropriate medications. The main findings of the register, that has accrued so far, 7005 older patients throughout a 10year period, are summarized herewith, with special emphasis on the main patterns of poor prescription appropriateness and related risks of adverse events.

Published
2018

138. ABCD2, ABCD2-I, and OTTAWA scores for stroke risk assessment: a direct retrospective comparison.

Author

Spampinato, Michele Domenico, Covino, Marcello, Passaro, Angelina, Guarino, Matteo, Marziani, Beatrice, Ghirardi, Caterina, Ricciardelli, Adelina, Fabbri, Irma Sofia, Strada, Andrea, Gasbarrini, Antonio, Franceschi, Francesco, and De Giorgio, Roberto

Abstract

Transient ischemic attack (TIA) is a neurologic emergency characterized by cerebral ischemia eliciting a temporary focal neurological deficit. Many clinical prediction scores have been proposed to assess the risk of stroke after TIA; however, studies on their clinical validity and comparisons among them are scarce. The objective is to compare the accuracy of ABCD2, ABCD2-I, and OTTAWA scores in the prediction of a stroke at 7, 90 days, and 1 year in patients presenting with TIA. Single-centre, retrospective study including patients with TIA admitted to the Emergency Department of our third-level, University Hospital, between 2018 and 2019. Five hundred three patients were included. Thirty-nine (7.7%) had a stroke within 1 year from the TIA: 9 (1.7%) and 24 (4.7%) within 7 and 90 days, respectively. ABCD2, ABCD2-I, and OTTAWA scores were significantly higher in patients who developed a stroke. AUROCs ranged from 0.66 to 0.75, without statistically significant differences at each time-point. Considering the best cut-off of each score, only ABCD2 > 3 showed a sensitivity of 100% only in the prediction of stroke within 7 days. Among clinical items of each score, duration of symptoms, previous TIA, hemiparesis, speech disturbance, gait disturbance, previous cerebral ischemic lesions, and known carotid artery disease were independent predictors of stroke. Clinical scores have moderate prognostic accuracy for stroke after TIA. Considering the independent predictors for stroke, our study indicates the need to continue research and prompts the development of new tools on predictive scores for TIA. [ABSTRACT FROM AUTHOR]

Published
2022
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142. Fibromyalgia: a new facet of the post-COVID-19 syndrome spectrum? Results from a web-based survey

Author

Ursini, Francesco, primary, Ciaffi, Jacopo, additional, Mancarella, Luana, additional, Lisi, Lucia, additional, Brusi, Veronica, additional, Cavallari, Carlotta, additional, D’Onghia, Martina, additional, Mari, Anna, additional, Borlandelli, Elena, additional, Faranda Cordella, Jacopo, additional, La Regina, Micaela, additional, Viola, Pasquale, additional, Ruscitti, Piero, additional, Miceli, Marco, additional, De Giorgio, Roberto, additional, Baldini, Nicola, additional, Borghi, Claudio, additional, Gasbarrini, Alessandro, additional, Iagnocco, Annamaria, additional, Giacomelli, Roberto, additional, Faldini, Cesare, additional, Landini, Maria Paola, additional, and Meliconi, Riccardo, additional

Published
2021
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147. Wheat ATIs: Characteristics and Role in Human Disease

Author

Geisslitz, Sabrina, Shewry, Peter, Brouns, Fred, America, Antoine H. P., Caio, Giacomo Pietro Ismaele, Daly, Matthew, D'Amico, Stefano, De Giorgio, Roberto, Gilissen, Luud, Grausgruber, Heinrich, Huang, Xin, Jonkers, Daisy, Keszthelyi, Daniel, Larré, Colette, Masci, Stefania, Mills, Clare, Møller, Marie Sofie, Sorrells, Mark E., Svensson, Birte, Zevallos, Victor F., Weegels, Peter Louis, Geisslitz, Sabrina, Shewry, Peter, Brouns, Fred, America, Antoine H. P., Caio, Giacomo Pietro Ismaele, Daly, Matthew, D'Amico, Stefano, De Giorgio, Roberto, Gilissen, Luud, Grausgruber, Heinrich, Huang, Xin, Jonkers, Daisy, Keszthelyi, Daniel, Larré, Colette, Masci, Stefania, Mills, Clare, Møller, Marie Sofie, Sorrells, Mark E., Svensson, Birte, Zevallos, Victor F., and Weegels, Peter Louis

Abstract

Amylase/trypsin-inhibitors (ATIs) comprise about 2-4% of the total wheat grain proteins and may contribute to natural defense against pests and pathogens. However, they are currently among the most widely studied wheat components because of their proposed role in adverse reactions to wheat consumption in humans. ATIs have long been known to contribute to IgE-mediated allergy (notably Bakers' asthma), but interest has increased since 2012 when they were shown to be able to trigger the innate immune system, with attention focused on their role in coeliac disease which affects about 1% of the population and, more recently, in non-coeliac wheat sensitivity which may affect up to 10% of the population. This has led to studies of their structure, inhibitory properties, genetics, control of expression, behavior during processing, effects on human adverse reactions to wheat and, most recently, strategies to modify their expression in the plant using gene editing. We therefore present an integrated account of this range of research, identifying inconsistencies, and gaps in our knowledge and identifying future research needs. Note This paper is the outcome of an invited international ATI expert meeting held in Amsterdam, February 3-5 2020.

Published
2021

148. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Author

Bonora, Elena, Chakrabarty, Sanjiban, Kellaris, Georgios, Tsutsumi, Makiko, Bianco, Francesca, Bergamini, Christian, Ullah, Farid, Isidori, Federica, Liparulo, Irene, Diquigiovanni, Chiara, Masin, Luca, Rizzardi, Nicola, Cratere, Mariapia Giuditta, Boschetti, Elisa, Papa, Valentina, Maresca, Alessandra, Cenacchi, Giovanna, Casadio, Rita, Martelli, Pierluigi, Matera, Ivana, Ceccherini, Isabella, Fato, Romana, Raiola, Giuseppe, Arrigo, Serena, Signa, Sara, Sementa, Angela Rita, Severino, Mariasavina, Striano, Pasquale, Fiorillo, Chiara, Goto, Tsuyoshi, Uchino, Shumpei, Oyazato, Yoshinobu, Nakamura, Hisayoshi, Mishra, Sushil K., Yeh, Yu Sheng, Kato, Takema, Nozu, Kandai, Tanboon, Jantima, Morioka, Ichiro, Nishino, Ichizo, Toda, Tatsushi, Goto, Yu Ichi, Ohtake, Akira, Kosaki, Kenjiro, Yamaguchi, Yoshiki, Nonaka, Ikuya, Iijima, Kazumoto, Mimaki, Masakazu, Kurahashi, Hiroki, Raams, Anja, Macinnes, Alyson, Alders, Mariel, Engelen, Marc, Linthorst, Gabor, De Koning, Tom, Den Dunnen, Wilfred, Dijkstra, Gerard, Van Spaendonck, Karin, Van Gent, Dik C., Aronica, Eleonora M., Picco, Paolo, Carelli, Valerio, Seri, Marco, Katsanis, Nicholas, Duijkers, Floor A.M., Taniguchi-Ikeda, Mariko, De Giorgio, Roberto, Bonora, Elena, Chakrabarty, Sanjiban, Kellaris, Georgios, Tsutsumi, Makiko, Bianco, Francesca, Bergamini, Christian, Ullah, Farid, Isidori, Federica, Liparulo, Irene, Diquigiovanni, Chiara, Masin, Luca, Rizzardi, Nicola, Cratere, Mariapia Giuditta, Boschetti, Elisa, Papa, Valentina, Maresca, Alessandra, Cenacchi, Giovanna, Casadio, Rita, Martelli, Pierluigi, Matera, Ivana, Ceccherini, Isabella, Fato, Romana, Raiola, Giuseppe, Arrigo, Serena, Signa, Sara, Sementa, Angela Rita, Severino, Mariasavina, Striano, Pasquale, Fiorillo, Chiara, Goto, Tsuyoshi, Uchino, Shumpei, Oyazato, Yoshinobu, Nakamura, Hisayoshi, Mishra, Sushil K., Yeh, Yu Sheng, Kato, Takema, Nozu, Kandai, Tanboon, Jantima, Morioka, Ichiro, Nishino, Ichizo, Toda, Tatsushi, Goto, Yu Ichi, Ohtake, Akira, Kosaki, Kenjiro, Yamaguchi, Yoshiki, Nonaka, Ikuya, Iijima, Kazumoto, Mimaki, Masakazu, Kurahashi, Hiroki, Raams, Anja, Macinnes, Alyson, Alders, Mariel, Engelen, Marc, Linthorst, Gabor, De Koning, Tom, Den Dunnen, Wilfred, Dijkstra, Gerard, Van Spaendonck, Karin, Van Gent, Dik C., Aronica, Eleonora M., Picco, Paolo, Carelli, Valerio, Seri, Marco, Katsanis, Nicholas, Duijkers, Floor A.M., Taniguchi-Ikeda, Mariko, and De Giorgio, Roberto

Abstract

Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has a mitochondrial splice variant and is crucial for mitochondrial health. We investigated the effect of reduced LIG3 activity and resulting mitochondrial dysfunction in seven patients from three independent families, who showed the common occurrence of gut dysmotility and neurological manifestations reminiscent of mitochondrial neurogastrointestinal encephalomyopathy. DNA from these patients was subjected to whole exome sequencing. In all patients, compound heterozygous variants in a new disease gene, LIG3, were identified. All variants were predicted to have a damaging effect on the protein. The LIG3 gene encodes the only mitochondrial DNA (mtDNA) ligase and therefore plays a pivotal role in mtDNA repair and replication. In vitro assays in patient-derived cells showed a decrease in LIG3 protein levels and ligase activity. We demonstrated that the LIG3 gene defects affect mtDNA maintenance, leading to mtDNA depletion without the accumulation of multiple deletions as observed in other mitochondrial disorders. This mitochondrial dysfunction is likely to cause the phenotypes observed in these patients. The most prominent and consistent clinical signs were severe gut dysmotility and neurological abnormalities, including leukoencephalopathy, epilepsy, migraine, stroke-like episodes, and neurogenic bladder. A decrease in the number of myenteric neurons, and increased fibrosis and elastin levels were the most prominent changes in the gut. Cytochrome c oxidase (COX) deficient fibres in skeletal muscle were also observed. Disruption of lig3 in zebrafish reproduced the brain alterations and impaired gut transit in vivo. In conclusion, we identified variants in the LIG3 gene that result in a mitochondrial disease characterized

Published
2021

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