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1. The Italian dementia with Lewy bodies study group (DLB-SINdem): toward a standardization of clinical procedures and multicenter cohort studies design

Author: Bonanni, L., Cagnin, A., Agosta, F., Babiloni, C., Borroni, B., Bozzali, M., Bruni, A. C., Filippi, M., Galimberti, D., Monastero, R., Muscio, C., Parnetti, L., Perani, D., Serra, L., Silani, V., Tiraboschi, P., Padovani, A., Alberici, A., Alberoni, M., Amici, S., Appollonio, I., Arena, M.G., Arighi, A., Avanzi, S., Bagella, C.F., Baglio, F., Barocco, F., Belardinelli, N., Bonuccelli, U., Bottini, G., Bruno Bossio, R., Bruno, G., Buccomino, D., Cacchiò, G., Calabrese, E., Campanelli, A., Canevelli, M., Canu, E.D.G., Cappa, A., Capra, C., Carapelle, E., Caratozzolo, S., Carbone, G.F.S., Cattaruzza, T., Cerami, C., Cester, A., Cheldi, A., Cherchi, R., Chiari, A., Cirafisi, C., Colao, R., Confaloni, A., Conti, M.Z., Costa, A., Costa, B., Cotelli, M.S., Cova, I., Cravello, L., Cumbo, E., Cupidi, C., De Togni, L., Del Din, G., Del Re, M.L., Dentizzi, C., Di Lorenzo, F., Di Stefano, F., Dikova, N., Farina, E., Floris, G., Foti, A., Franceschi, M., Fumagalli, G.G., Gabelli, C., Ghidoni, E., Giannandrea, D., Giordana, M.T., Giorelli, M., Giubilei, F., Grimaldi, L., Grimaldi, R., Guglielmi, V., Lanari, A., Le Pira, F., Letteri, F., Levi Minzi, G.V., Lorusso, S., Ludovico, L., Luzzi, S., Maggiore, L., Magnani, G., Mancini, G., Manconi, F.M., Manfredi, L., Maniscalco, M., Marano, P., Marcon, M., Marcone, A., Marra, C., Martorana, A., Mascia, M.G., Mascia, V., Mauri, M., Mazzei, B., Meloni, M., Merlo, P., Messa, G., Milia, A., Monacelli, F., Montecalvo, G., Moschella, V., Mura, G., Nemni, R., Nobili, F., Notarelli, A., Di Giacomo, R., Onofrj, M., Paci, C., Padiglioni, C., Perini, M., Perotta, D., Perri, Formenti A., Perri, R., Piccininni, C., Piccoli, T., Pilia, G., Pilotto, A., Poli, S., Pomati, S., Pompanin, S., Pucci, E., Puccio, G., Quaranta, D., Rainero, I., Rea, G., Realmuto, S., Riva, M., Rizzetti, M.C., Rolma, G., Rozzini, L., Sacco, L., Saibene, F.L., Scarpini, E., Sensi, S., Seripa, D., Sinforiani, E., Sorbi, S., Sorrentino, G., Spallazzi, M., Stracciari, A., Talarico, G., Tassinari, T., Thomas, A., Tiezzi, A., Tomassini, P.F., Trebbastoni, A., Tremolizzo, L., Tripi, G., Ursini, F., Vaianella, L., Valluzzi, F., Vezzadini, G., Vista, M., Volontè, M.A., On behalf of DLB-SINdem study group, and Istituto Superiore di Sanità
Published: 2017
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2. Being the Family Caregiver of a Patient With Dementia During the Coronavirus Disease 2019 Lockdown

Author: Zucca, M., Isella, V., Lorenzo, R. D., Marra, Camillo, Cagnin, A., Cupidi, C., Bonanni, L., Lagana, V., Rubino, E., Vanacore, N., Agosta, F., Caffarra, P., Sambati, R., Quaranta, Davide, Guglielmi, Valeria, Appollonio, I. M., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I., Bruni, A. C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., Martino, P. D., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Martellacci, N., Lino, F., Mozzetta, S., Busse, C., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, Claudia, Russo, M., Casalena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Fede, G. D., Coppa, D., Peluso, L., Insarda, P., Bartolo, M. D., Esposito, S., Iavarone, A., Orsini, A. V. M., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Perini, M., Spalletta, G., Banaj, N., Porcari, D. E., Caruso, G., Cipollini, V., Casini, A. R., Ursini, F., Bruno, G., Rozzini, R., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Ramusino, M. C., Perini, G., Luzzi, S., Cacchio, G., Ciccola, A., Cionfrini, L., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Petrucci, R., Accogli, M., Carapelle, E., Calabrese, G., Trevisi, G. N., Coluccia, B., Giuliano, A. V., Caggiula, M., Impagnatiello, V., Beretta, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Mossello, E., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Fichera, G., Pradelli, S., Formilan, M., Coin, A., Togni, L. D., Sala, F., Nicolosi, V., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Zucca M., Isella V., Lorenzo R.D., Marra C., Cagnin A., Cupidi C., Bonanni L., Lagana V., Rubino E., Vanacore N., Agosta F., Caffarra P., Sambati R., Quaranta D., Guglielmi V., Appollonio I.M., Logroscino G., Filippi M., Tedeschi G., Ferrarese C., Rainero I., Bruni A.C., Gallo E., Grassini A., Marcinno A., Roveta F., Martino P.D., Frangipane F., Puccio G., Colao R., Mirabelli M., Martellacci N., Lino F., Mozzetta S., Busse C., Camporese G., Sacco S., Lechiara M.C., Carrarini C., Russo M., Casalena A., Sucapane P., Tiraboschi P., Caroppo P., Redaelli V., Fede G.D., Coppa D., Peluso L., Insarda P., Bartolo M.D., Esposito S., Iavarone A., Orsini A.V.M., Salvatore E., Criscuolo C., Sambati L., Santoro R., Gragnaniello D., Pedriali I., Ludovico L., Chiari A., Fabbo A., Bevilacqua P., Galli C., Magarelli S., Perini M., Spalletta G., Banaj N., Porcari D.E., Caruso G., Cipollini V., Casini A.R., Ursini F., Bruno G., Rozzini R., Brambilla M., Magnani G., Caso F., Spinelli E.G., Ramusino M.C., Perini G., Luzzi S., Cacchio G., Ciccola A., Cionfrini L., Giuli C., Fabi K., Guidi M., Paci C., Castellano A., Petrucci R., Accogli M., Carapelle E., Calabrese G., Trevisi G.N., Coluccia B., Giuliano A.V., Caggiula M., Impagnatiello V., Beretta F., Milia A., Pilia G., Mascia M.G., Putzu V., Piccoli T., Cuffaro L., Monastero R., Battaglia A., Blandino V., Lupo F., Cumbo E., Luca A., Caravaglios G., Vezzosi A., Bessi V., Tognoni G., Calsolaro V., Mossello E., Amici S., Trequattrini A., Pezzuto S., Mecocci P., Fichera G., Pradelli S., Formilan M., Coin A., Togni L.D., Sala F., Nicolosi V., Gallucci M., Mazzarolo A.P., Bergamelli C., Zucca, M, Isella, V, Di Lorenzo, R, Marra, C, Cagnin, A, Cupidi, C, Bonanni, L, Laganà, V, Rubino, E, Vanacore, N, Agosta, F, Caffarra, P, Sambati, R, Quaranta, D, Guglielmi, V, Appollonio, I, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Martellacci, N, Lino, F, Mozzetta, S, Bussè, C, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casalena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Orsini, A, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Perini, M, Spalletta, G, Banaj, N, Porcari, D, Caruso, G, Cipollini, V, Casini, A, Ursini, F, Bruno, G, Rozzini, R, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Cotta Ramusino, M, Perini, G, Luzzi, S, Cacchiò, G, Ciccola, A, Cionfrini, L, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Petrucci, R, Accogli, M, Carapelle, E, Calabrese, G, Trevisi, G, Coluccia, B, Vasquez Giuliano, A, Caggiula, M, Impagnatiello, V, Beretta, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Mossello, E, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Fichera, G, Pradelli, S, Formilan, M, Coin, A, De Togni, L, Sala, F, Nicolosi, V, Gallucci, M, Mazzarolo, A, Bergamelli, C, Zucca, Milena, Isella, Valeria, Lorenzo, Raffaele Di, Marra, Camillo, Cagnin, Annachiara, Cupidi, Chiara, Bonanni, Laura, Laganà, Valentina, Rubino, Elisa, Vanacore, Nicola, Agosta, Federica, Caffarra, Paolo, Sambati, Renato, Quaranta, Davide, Guglielmi, Valeria, Appollonio, Ildebrando M., Logroscino, Giancarlo, Filippi, Massimo, Tedeschi, Gioacchino, Ferrarese, Carlo, Rainero, Innocenzo, and Bruni, Amalia C.
Subjects: Aging, medicine.medical_specialty, Cognitive Neuroscience, Population, Psychological intervention, Protective factor, Neurosciences. Biological psychiatry. Neuropsychiatry, burden, 03 medical and health sciences, stress, 0302 clinical medicine, stre, medicine, Dementia, caregiver, COVID-19, dementia, Psychiatry, education, Original Research, MED/26 - NEUROLOGIA, education.field_of_study, 030214 geriatrics, burden, caregiver, COVID-19, dementia, stress, Family caregivers, business.industry, medicine.disease, Mental health, Settore MED/26 - NEUROLOGIA, Anxiety, Caregiver stress, M-PSI/08 - PSICOLOGIA CLINICA, medicine.symptom, business, 030217 neurology & neurosurgery, Neuroscience, RC321-571
Abstract: Background: Family caregivers of patients with dementia are at high risk of stress and burden, and quarantine due to the coronavirus disease 2019 (COVID-19) pandemic may have increased the risk of psychological disturbances in this population. The current study was carried out during the national lockdown declared in March 2020 by the Italian government as a containment measure of the first wave of the coronavirus pandemic and is the first nationwide survey on the impact of COVID-19 lockdown on the mental health of dementia informal caregivers.Methods: Eighty-seven dementia centers evenly distributed on the Italian territory enrolled 4,710 caregiver–patient pairs. Caregivers underwent a telephone interview assessing classical symptoms of caregiver stress and concern for the consequences of COVID-19 infection on patient’s health. We calculated prevalence of symptoms and regressed them on various potential stress risk factors: caregivers’ sociodemographic characteristics and lifestyle, patients’ clinical features, and lockdown-related elements, like discontinuity in medical care.Results: Approximately 90% of caregivers reported at least one symptom of stress, and nearly 30% reported four or more symptoms. The most prevalent symptoms were concern for consequences of COVID-19 on patient’s health (75%) and anxiety (46%). The main risk factors for stress were identified as a conflicting relationship with the patient and discontinuity in assistance, but caregiver’s female sex, younger age, lower education, and cohabitation with the patient also had an impact. Availability of help from institutions or private individuals showed a protective effect against sense of abandonment but a detrimental effect on concern about the risk for the patient to contract COVID-19. The only protective factor was mild dementia severity, which was associated with a lower risk of feeling isolated and abandoned; type of dementia, on the other hand, did not affect stress risk.Conclusion: Our results demonstrate the large prevalence of stress in family caregivers of patients with dementia during the COVID-19 pandemic and have identified both caregivers and situations at a higher risk of stress, which should be taken into account in the planning of interventions in support of quarantined families and patients.
Published: 2021

3. The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey

Author: Rainero, I, Bruni, A, Marra, C, Cagnin, A, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Di Lorenzo, R, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Busse, C, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Terracciano, C, Lino, F, Mozzetta, S, Gazzola, G, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casa Lena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Fuschillo, C, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Spalletta, G, Banaj, N, Caruso, G, Porcari, E, Giubilei, F, Casini, A, Ursini, F, Bruno, G, Boffelli, S, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Sinforiani, E, Costa, A, Luzzi, S, Cacchiò, G, Perini, M, Angeloni, R, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Carapelle, E, Petrucci, R, Accogli, M, Trevisi, G, Renna, S, Vasquez Giuliano, A, Da Re, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Lucarelli, G, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Caironi, G, Boselli, B, Formilan, M, Coin, A, De Togni, L, Sala, F, Sandri, G, Gallucci, M, Mazzarolo, A, Bergamelli, C, Passoni, S, Bruni, AC, Lechiara, MC, Porcari, ED, Casini, AR, Spinelli, EG, Trevisi, GN, Mascia, MG, Mazzarolo, AP, Rainero, I, Bruni, A, Marra, C, Cagnin, A, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Di Lorenzo, R, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Busse, C, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Terracciano, C, Lino, F, Mozzetta, S, Gazzola, G, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casa Lena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Fuschillo, C, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Spalletta, G, Banaj, N, Caruso, G, Porcari, E, Giubilei, F, Casini, A, Ursini, F, Bruno, G, Boffelli, S, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Sinforiani, E, Costa, A, Luzzi, S, Cacchiò, G, Perini, M, Angeloni, R, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Carapelle, E, Petrucci, R, Accogli, M, Trevisi, G, Renna, S, Vasquez Giuliano, A, Da Re, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Lucarelli, G, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Caironi, G, Boselli, B, Formilan, M, Coin, A, De Togni, L, Sala, F, Sandri, G, Gallucci, M, Mazzarolo, A, Bergamelli, C, Passoni, S, Bruni, AC, Lechiara, MC, Porcari, ED, Casini, AR, Spinelli, EG, Trevisi, GN, Mascia, MG, and Mazzarolo, AP
Abstract: Introduction: Previous studies showed that quarantine for pandemic diseases is associated with several psychological and medical effects. The consequences of quarantine for COVID-19 pandemic in patients with dementia are unknown. We investigated the clinical changes in patients with Alzheimer’s disease and other dementias, and evaluated caregivers’ distress during COVID-19 quarantine. Methods: The study involved 87 Italian Dementia Centers. Patients with Alzheimer’s Disease (AD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) were eligible for the study. Family caregivers of patients with dementia were interviewed by phone in April 2020, 45 days after quarantine declaration. Main outcomes were patients’ changes in cognitive, behavioral, and motor symptoms. Secondary outcomes were effects on caregivers’ psychological features. Results: 4913 patients (2934 females, 1979 males) fulfilled the inclusion criteria. Caregivers reported a worsening in cognitive functions in 55.1% of patients, mainly in subjects with DLB and AD. Aggravation of behavioral symptoms was observed in 51.9% of patients. In logistic regression analysis, previous physical independence was associated with both cognitive and behavioral worsening (odds ratio 1.85 [95% CI 1.42–2.39], 1.84 [95% CI 1.43–2.38], respectively). On the contrary, pandemic awareness was a protective factor for the worsening of cognitive and behavioral symptoms (odds ratio 0.74 [95% CI 0.65–0.85]; and 0.72 [95% CI 0.63–0.82], respectively). Approximately 25.9% of patients showed the onset of new behavioral symptoms. A worsening in motor function was reported by 36.7% of patients. Finally, caregivers reported a high increase in anxiety, depression, and distress. Conclusion: Our study shows that quarantine for COVID-19 is associated with an acute worsening of clinical symptoms in patients with dementia as well as increase of caregivers’ burden. Our findings emphasize the importance to imp
Published: 2021

4. Being the Family Caregiver of a Patient With Dementia During the Coronavirus Disease 2019 Lockdown

Author: Zucca, M, Isella, V, Di Lorenzo, R, Marra, C, Cagnin, A, Cupidi, C, Bonanni, L, Laganà, V, Rubino, E, Vanacore, N, Agosta, F, Caffarra, P, Sambati, R, Quaranta, D, Guglielmi, V, Appollonio, I, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Martellacci, N, Lino, F, Mozzetta, S, Bussè, C, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casalena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Orsini, A, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Perini, M, Spalletta, G, Banaj, N, Porcari, D, Caruso, G, Cipollini, V, Casini, A, Ursini, F, Bruno, G, Rozzini, R, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Cotta Ramusino, M, Perini, G, Luzzi, S, Cacchiò, G, Ciccola, A, Cionfrini, L, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Petrucci, R, Accogli, M, Carapelle, E, Calabrese, G, Trevisi, G, Coluccia, B, Vasquez Giuliano, A, Caggiula, M, Impagnatiello, V, Beretta, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Mossello, E, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Fichera, G, Pradelli, S, Formilan, M, Coin, A, De Togni, L, Sala, F, Nicolosi, V, Gallucci, M, Mazzarolo, A, Bergamelli, C, Bruni, AC, Lechiara, MC, Orsini, AVM, Porcari, DE, Casini, AR, Spinelli, EG, Trevisi, GN, Mascia, MG, Mazzarolo, AP, Zucca, M, Isella, V, Di Lorenzo, R, Marra, C, Cagnin, A, Cupidi, C, Bonanni, L, Laganà, V, Rubino, E, Vanacore, N, Agosta, F, Caffarra, P, Sambati, R, Quaranta, D, Guglielmi, V, Appollonio, I, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Martellacci, N, Lino, F, Mozzetta, S, Bussè, C, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casalena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Orsini, A, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Perini, M, Spalletta, G, Banaj, N, Porcari, D, Caruso, G, Cipollini, V, Casini, A, Ursini, F, Bruno, G, Rozzini, R, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Cotta Ramusino, M, Perini, G, Luzzi, S, Cacchiò, G, Ciccola, A, Cionfrini, L, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Petrucci, R, Accogli, M, Carapelle, E, Calabrese, G, Trevisi, G, Coluccia, B, Vasquez Giuliano, A, Caggiula, M, Impagnatiello, V, Beretta, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Mossello, E, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Fichera, G, Pradelli, S, Formilan, M, Coin, A, De Togni, L, Sala, F, Nicolosi, V, Gallucci, M, Mazzarolo, A, Bergamelli, C, Bruni, AC, Lechiara, MC, Orsini, AVM, Porcari, DE, Casini, AR, Spinelli, EG, Trevisi, GN, Mascia, MG, and Mazzarolo, AP
Abstract: Background: Family caregivers of patients with dementia are at high risk of stress and burden, and quarantine due to the coronavirus disease 2019 (COVID-19) pandemic may have increased the risk of psychological disturbances in this population. The current study was carried out during the national lockdown declared in March 2020 by the Italian government as a containment measure of the first wave of the coronavirus pandemic and is the first nationwide survey on the impact of COVID-19 lockdown on the mental health of dementia informal caregivers. Methods: Eighty-seven dementia centers evenly distributed on the Italian territory enrolled 4,710 caregiver-patient pairs. Caregivers underwent a telephone interview assessing classical symptoms of caregiver stress and concern for the consequences of COVID-19 infection on patient's health. We calculated prevalence of symptoms and regressed them on various potential stress risk factors: caregivers' sociodemographic characteristics and lifestyle, patients' clinical features, and lockdown-related elements, like discontinuity in medical care. Results: Approximately 90% of caregivers reported at least one symptom of stress, and nearly 30% reported four or more symptoms. The most prevalent symptoms were concern for consequences of COVID-19 on patient's health (75%) and anxiety (46%). The main risk factors for stress were identified as a conflicting relationship with the patient and discontinuity in assistance, but caregiver's female sex, younger age, lower education, and cohabitation with the patient also had an impact. Availability of help from institutions or private individuals showed a protective effect against sense of abandonment but a detrimental effect on concern about the risk for the patient to contract COVID-19. The only protective factor was mild dementia severity, which was associated with a lower risk of feeling isolated and abandoned; type of dementia, on the other hand, did not affect stress risk. Conclusion: Our re
Published: 2021

5. The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey

Author: Rainero, I., Bruni, A. C., Marra, Camillo, Cagnin, A., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Lorenzo, R. D., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Busse, C., Sambati, R., Quaranta, D., Guglielmi, Valeria, Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Terracciano, C., Lino, F., Mozzetta, S., Gazzola, G., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casa Lena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Fuschillo, C., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Spalletta, G., Banaj, N., Caruso, G., Estela Porcari, D., Giubilei, F., Casini, A. R., Ursini, F., Bruno, G., Boffelli, S., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Sinforiani, E., Costa, A., Luzzi, S., Cacchio, G., Perini, M., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Nicoletta Trevisi, G., Renna, S., Giuliano, A. V., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Lucarelli, G., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Caironi, G., Boselli, B., Formilan, M., Coin, A., De Togni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Passoni, S., Marra C. (ORCID:0000-0003-3994-4044), Guglielmi V., Rainero, I., Bruni, A. C., Marra, Camillo, Cagnin, A., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Lorenzo, R. D., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Busse, C., Sambati, R., Quaranta, D., Guglielmi, Valeria, Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Terracciano, C., Lino, F., Mozzetta, S., Gazzola, G., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casa Lena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Fuschillo, C., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Spalletta, G., Banaj, N., Caruso, G., Estela Porcari, D., Giubilei, F., Casini, A. R., Ursini, F., Bruno, G., Boffelli, S., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Sinforiani, E., Costa, A., Luzzi, S., Cacchio, G., Perini, M., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Nicoletta Trevisi, G., Renna, S., Giuliano, A. V., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Lucarelli, G., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Caironi, G., Boselli, B., Formilan, M., Coin, A., De Togni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Passoni, S., Marra C. (ORCID:0000-0003-3994-4044), and Guglielmi V.
Abstract: Introduction: Previous studies showed that quarantine for pandemic diseases is associated with several psychological and medical effects. The consequences of quarantine for COVID-19 pandemic in patients with dementia are unknown. We investigated the clinical changes in patients with Alzheimer’s disease and other dementias, and evaluated caregivers’ distress during COVID-19 quarantine. Methods: The study involved 87 Italian Dementia Centers. Patients with Alzheimer’s Disease (AD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) were eligible for the study. Family caregivers of patients with dementia were interviewed by phone in April 2020, 45 days after quarantine declaration. Main outcomes were patients’ changes in cognitive, behavioral, and motor symptoms. Secondary outcomes were effects on caregivers’ psychological features. Results: 4913 patients (2934 females, 1979 males) fulfilled the inclusion criteria. Caregivers reported a worsening in cognitive functions in 55.1% of patients, mainly in subjects with DLB and AD. Aggravation of behavioral symptoms was observed in 51.9% of patients. In logistic regression analysis, previous physical independence was associated with both cognitive and behavioral worsening (odds ratio 1.85 [95% CI 1.42–2.39], 1.84 [95% CI 1.43–2.38], respectively). On the contrary, pandemic awareness was a protective factor for the worsening of cognitive and behavioral symptoms (odds ratio 0.74 [95% CI 0.65–0.85]; and 0.72 [95% CI 0.63–0.82], respectively). Approximately 25.9% of patients showed the onset of new behavioral symptoms. A worsening in motor function was reported by 36.7% of patients. Finally, caregivers reported a high increase in anxiety, depression, and distress. Conclusion: Our study shows that quarantine for COVID-19 is associated with an acute worsening of clinical symptoms in patients with dementia as well as increase of caregivers’ burden. Our findings emphasize the importance to imp
Published: 2021

6. Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia

Author: Cagnin, A., Di Lorenzo, R., Marra, C., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Pettenuzzo, I., Sambati, R., Quaranta, D., Guglielmi, V., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I., Bruni, A. C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Martellacci, N., Lino, F., Mozzetta, S., Busse, C., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casalena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Orsini, A. V. M., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Perini, M., Spalletta, G., Banaj, N., Porcari, D. E., Caruso, G., Cipollini, V., Casini, A. R., Ursini, F., Bruno, G., Rozzini, R., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Ramusino, M. C., Perini, G., Luzzi, S., Cacchio, G., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Calabrese, G., Trevisi, G. N., Coluccia, B., Giuliano, A. V., Caggiula, M., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Antonina, L., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Mossello, E., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Fichera, G., Pradelli, S., Formilan, M., Coin, A., Detogni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Marra C. (ORCID:0000-0003-3994-4044), Cagnin, A., Di Lorenzo, R., Marra, C., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Pettenuzzo, I., Sambati, R., Quaranta, D., Guglielmi, V., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I., Bruni, A. C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Martellacci, N., Lino, F., Mozzetta, S., Busse, C., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casalena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Orsini, A. V. M., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Perini, M., Spalletta, G., Banaj, N., Porcari, D. E., Caruso, G., Cipollini, V., Casini, A. R., Ursini, F., Bruno, G., Rozzini, R., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Ramusino, M. C., Perini, G., Luzzi, S., Cacchio, G., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Calabrese, G., Trevisi, G. N., Coluccia, B., Giuliano, A. V., Caggiula, M., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Antonina, L., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Mossello, E., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Fichera, G., Pradelli, S., Formilan, M., Coin, A., Detogni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., and Marra C. (ORCID:0000-0003-3994-4044)
Abstract: Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of quarantine in frail elderly subjects with special needs, such as patients with dementia, have been poorly investigated. The aim of this study was to assess modifications of neuropsychiatric symptoms during quarantine in patients with dementia and their caregivers. Methods: This is a sub-study of a multicenter nation-wide survey. A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and vascular dementia (VD), followed regularly at 87 Italian memory clinics. Variations in behavioral and psychological symptoms (BPSD) were collected after 1 month since quarantine declaration and associations with disease type, severity, gender, and caregiver’s stress burden were analyzed. Results: A total of 4,913 caregivers participated in the survey. Increased BPSD was reported in 59.6% of patients as worsening of preexisting symptoms (51.9%) or as new onset (26%), and requested drug modifications in 27.6% of these cases. Irritability, apathy, agitation, and anxiety were the most frequently reported worsening symptoms and sleep disorder and irritability the most frequent new symptoms. Profile of BPSD varied according to dementia type, disease severity, and patients’ gender. Anxiety and depression were associated with a diagnosis of AD (OR 1.35, CI: 1.12–1.62), mild to moderate disease severity and female gender. DLB was significantly associated with a higher risk of worsening hallucinations (OR 5.29, CI 3.66–7.64) and sleep disorder (OR 1.69, CI 1.25–2.29), FTD with wandering (OR 1.62, CI 1.12–2.35), and change of appetite (OR 1.52, CI 1.03–2.25). Stress-related symptoms were experienced by two-thirds of caregiv
Published: 2020

7. The Italian dementia with Lewy bodies study group (DLB-SINdem): toward a standardization of clinical procedures and multicenter cohort studies design

Author: Bonanni, L, Cagnin, A., Agosta, F., Babiloni, C., Borroni, B., Bozzali, M., Bruni, A. C., Filippi, M., Galimberti, D., Monastero, R., Muscio, C., Parnetti, L., Perani, D., Serra, L., Silani, V., Tiraboschi, P., Padovani, A., On behalf of DLB SINdem study group, Null, Alberici, A., Alberoni, M., Amici, S., Appollonio, I., Arena, M. G., Arighi, A., Avanzi, S., Bagella, C. F., Baglio, F., Barocco, F., Belardinelli, N., Bonuccelli, U., Bottini, G., Bruno Bossio, R., Bruno, G., Buccomino, D., Cacchiò, G., Calabrese, E., Campanelli, A., Canevelli, M., Canu, E. D. G., Cappa, A., Capra, C., Carapelle, E., Caratozzolo, S., Carbone, G. F. S., Cattaruzza, T., Cerami, C., Cester, A., Cheldi, A., Cherchi, R., Chiari, A., Cirafisi, C., Colao, R., Confaloni, A., Conti, M. Z., Costa, A., Costa, B., Cotelli, M. S., Cova, I., Cravello, L., Cumbo, E., Cupidi, C., De Togni, L., Del Din, G., Del Re, M. L., Dentizzi, C., Di Lorenzo, F., Di Stefano, F., Dikova, N., Farina, E., Floris, G., Foti, A., Franceschi, M., Fumagalli, G. G., Gabelli, C., Ghidoni, E., Giannandrea, D., Giordana, M. T., Giorelli, M., Giubilei, F., Grimaldi, L., Grimaldi, R., Guglielmi, V., Lanari, A., Le Pira, F., Letteri, F., Levi Minzi, G. V., Lorusso, S., Ludovico, L., Luzzi, S., Maggiore, L., Magnani, G., Mancini, G., Manconi, F. M., Manfredi, L., Maniscalco, M., Marano, P., Marcon, M., Marcone, A., Marra, C., Martorana, A., Mascia, M. G., Mascia, V., Mauri, M., Mazzei, B., Meloni, M., Merlo, P., Messa, G., Milia, A., Monacelli, F., Montecalvo, G., Moschella, V., Mura, G., Nemni, R., Nobili, F., Notarelli, A., Di Giacomo, R., Onofrj, M., Paci, C., Padiglioni, C., Perini, M., Perotta, D., Perri, Formenti A., Perri, R., Piccininni, C., Piccoli, T., Pilia, G., Pilotto, A., Poli, S., Pomati, S., Pompanin, S., Pucci, E., Puccio, G., Quaranta, D., Rainero, I., Rea, G., Realmuto, S., Riva, M., Rizzetti, M. C., Rolma, G., Rozzini, L., Sacco, L., Saibene, F. L., Scarpini, E., Sensi, S., Seripa, D., Sinforiani, E., Sorbi, S., Sorrentino, Giuseppe, Spallazzi, M., Stracciari, A., Talarico, G., Tassinari, T., Thomas, A., Tiezzi, A., Tomassini, P. F., Trebbastoni, A., Tremolizzo, L., Tripi, G., Ursini, F., Vaianella, L., Valluzzi, F., Vezzadini, G., Vista, M., Volontè, M. A., Bonanni, L, Cagnin, A, Agosta, F, Babiloni, C, Borroni, B, Bozzali, M, Bruni, A, Filippi, M, Galimberti, D, Monastero, R, Muscio, C, Parnetti, L, Perani, D, Serra, L, Silani, V, Tiraboschi, P, Padovani, A, Alberici, A, Alberoni, M, Amici, S, Appollonio, I, Arena, M, Arighi, A, Avanzi, S, Bagella, C, Baglio, F, Barocco, F, Belardinelli, N, Bonuccelli, U, Bottini, G, Bruno Bossio, R, Bruno, G, Buccomino, D, Cacchiò, G, Calabrese, E, Campanelli, A, Canevelli, M, Canu, E, Cappa, A, Capra, C, Carapelle, E, Caratozzolo, S, Carbone, G, Cattaruzza, T, Cerami, C, Cester, A, Cheldi, A, Cherchi, R, Chiari, A, Cirafisi, C, Colao, R, Confaloni, A, Conti, M, Costa, A, Costa, B, Cotelli, M, Cova, I, Cravello, L, Cumbo, E, Cupidi, C, de Togni, L, Del Din, G, Del Re, M, Dentizzi, C, Di Lorenzo, F, Di Stefano, F, Dikova, N, Farina, E, Floris, G, Foti, A, Franceschi, M, Fumagalli, G, Gabelli, C, Ghidoni, E, Giannandrea, D, Giordana, M, Giorelli, M, Giubilei, F, Grimaldi, L, Grimaldi, R, Guglielmi, V, Lanari, A, Le Pira, F, Letteri, F, Levi Minzi, G, Lorusso, S, Ludovico, L, Luzzi, S, Maggiore, L, Magnani, G, Mancini, G, Manconi, F, Manfredi, L, Maniscalco, M, Marano, P, Marcon, M, Marcone, A, Marra, C, Martorana, A, Mascia, M, Mascia, V, Mauri, M, Mazzei, B, Meloni, M, Merlo, P, Messa, G, Milia, A, Monacelli, F, Montecalvo, G, Moschella, V, Mura, G, Nemni, R, Nobili, F, Notarelli, A, Di Giacomo, R, Onofrj, M, Paci, C, Padiglioni, C, Perini, M, Perotta, D, Perri, F, Perri, R, Piccininni, C, Piccoli, T, Pilia, G, Pilotto, A, Poli, S, Pomati, S, Pompanin, S, Pucci, E, Puccio, G, Quaranta, D, Rainero, I, Rea, G, Realmuto, S, Riva, M, Rizzetti, M, Rolma, G, Rozzini, L, Sacco, L, Saibene, F, Scarpini, E, Sensi, S, Seripa, D, Sinforiani, E, Sorbi, S, Sorrentino, G, Spallazzi, M, Stracciari, A, Talarico, G, Tassinari, T, Thomas, A, Tiezzi, A, Tomassini, P, Trebbastoni, A, Tremolizzo, L, Tripi, G, Ursini, F, Vaianella, L, Valluzzi, F, Vezzadini, G, Vista, M, Volontè, M, Bruni, Ac, DLB-SINdem study, Group, Bruni, AC, and Padovani, A - On behalf of DLB-SINdem study group
Subjects: Lewy Body Disease, medicine.medical_specialty, Pediatrics, Dementia with Lewy bodie, Dementia with Lewy bodies, Dermatology, Cohort Studies, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Alzheimer Disease, Surveys and Questionnaires, mental disorders, Standardization of diagnostic procedures, Diagnosis, Survey, Disease Management, Humans, Italy, Research Design, 2708, Neurology (clinical), Psychiatry and Mental Health, medicine, Dementia, 030212 general & internal medicine, MED/01 - STATISTICA MEDICA, MED/26 - NEUROLOGIA, business.industry, Standardization of diagnostic procedure, General Medicine, medicine.disease, Settore MED/26 - NEUROLOGIA, Cohort, Differential, Physical therapy, Delirium, Alzheimer's disease, medicine.symptom, business, 030217 neurology & neurosurgery, Frontotemporal dementia, Cohort study
Abstract: Dementia with Lewy bodies (DLB) causes elevated outlays for the National Health Systems due to high institutionalization rate and patients' reduced quality of life and high mortality. Furthermore, DLB is often misdiagnosed as Alzheimer's disease. These data motivate harmonized multicenter longitudinal cohort studies to improve clinical management and therapy monitoring. The Italian DLB study group of the Italian Neurological Society for dementia (SINdem) developed and emailed a semi-structured questionnaire to 572 national dementia centers (from primary to tertiary) to prepare an Italian large longitudinal cohort. The questionnaire surveyed: (1) prevalence and incidence of DLB; (2) clinical assessment; (3) relevance and availability of diagnostic tools; (4) pharmacological management of cognitive, motor, and behavioural disturbances; (5) causes of hospitalization, with specific focus on delirium and its treatment. Overall, 135 centers (23.6 %) contributed to the survey. Overall, 5624 patients with DLB are currently followed by the 135 centers in a year (2042 of them are new patients). The percentage of DLB patients was lower (27 ± 8 %) than that of Alzheimer's disease and frontotemporal dementia (56 ± 27 %) patients. The majority of the centers (91 %) considered the clinical and neuropsychological assessments as the most relevant procedure for a DLB diagnosis. Nonetheless, most of the centers has availability of magnetic resonance imaging (MRI; 95 %), electroencephalography (EEG; 93 %), and FP-CIT single photon emission-computerized tomography (SPECT; 75 %) scan for clinical applications. It will be, therefore, possible to recruit a large harmonized Italian cohort of DLB patients for future cross-sectional and longitudinal multicenter studies.
Published: 2017

8. Italian Frontotemporal Dementia Network (FTD Group-SINDEM): sharing clinical and diagnostic procedures in Frontotemporal Dementia in Italy

Author: Borroni, B, Turrone, R, Galimberti, D, Nacmias, B, Alberici, A, Benussi, A, Caffarra, P, Caltagirone, C, Cappa, S, Frisoni, G, Ghidoni, R, Marra, C, Padovani, A, Rainero, I, Scarpini, E, Silani, V, Sorbi, S, Tagliavini, F, Tremolizzo, L, Bruni, A, Agosta, F, Alberoni, M, Appollonio, I, Arighi, A, Avanzi, S, Baglio, F, Benussi, L, Bianchetti, A, Binetti, G, Bonanni, L, Bottacchi, E, Bruno, G, Canevelli, M, Canu, E, Cerami, C, Chiari, A, Conti, M, Costa, A, Costa, M, Cotelli, M, Cupidi, C, Daniele, A, D'Anna, S, de Caro, M, De Togni, L, Dell'Osa, M, Di Stefano, F, Ferrarese, C, Ferrari, C, Filastro, F, Floris, G, Franceschi, M, Gennuso, M, Ghidoni, E, Giordana, M, Gragnaniello, D, Grimaldi, L, Lanari, A, Le Pira, F, Lombardi, G, Lorusso, S, Ludovico, L, Luzzi, S, Magnani, G, Manfredi, L, Marano, P, Marcone, A, Marrosu, M, Martorana, A, Mascia, M, Masullo, C, Mauri, M, Mazzone, A, Mela, A, Merlo, P, Micheli, A, Milia, A, Mina, C, Montella, P, Mura, G, Murru, M, Nemni, R, Paci, C, Pantieri, R, Panza, F, Parnetti, L, Perini, M, Pettenati, C, Piccininni, M, Piccoli, T, Pilia, G, Pinessi, L, Piras, M, Realmuto, S, Ricca, I, Rizzetti, M, Rozzini, L, Rubino, E, Sambati, L, Seripa, D, Siano, P, Sinforiani, E, Sorrentino, G, Specchio, L, Stracciari, A, Susani, E, Talarico, G, Tartaglione, B, Tessitore, A, Thomas, A, Tiezzi, A, Tiraboschi, P, Tognoni, G, Tondelli, M, Trebbastoni, A, Turla, M, Ursini, F, Valluzzi, F, Vista, M, Zannino, G, Zanusso, G, Borroni B., Turrone R., Galimberti D., Nacmias B., Alberici A., Benussi A., Caffarra P., Caltagirone C., Cappa S. F., Frisoni G. B., Ghidoni R., Marra C., Padovani A., Rainero I., Scarpini E., Silani V., Sorbi S., Tagliavini F., Tremolizzo L., Bruni A. C., Agosta F., Alberoni M., Appollonio I., Arighi A., Avanzi S., Baglio F., Benussi L., Bianchetti A., Binetti G., Bonanni L., Bottacchi E., Bruno G., Canevelli M., Canu E., Cerami C., Chiari A., Conti M. Z., Costa A., Costa M., Cotelli M., Cotelli M. S., Cupidi C., Daniele A., D'Anna S., de Caro M. F., De Togni L., Dell'Osa M. T., Di Stefano F., Ferrarese C., Ferrari C., Filastro F., Floris G., Franceschi M., Gennuso M., Ghidoni E., Giordana M. T., Gragnaniello D., Grimaldi L., Lanari A., Le Pira F., Lombardi G., Lorusso S., Ludovico L., Luzzi S., Magnani G., Manfredi L. G., Marano P., Marcone A., Marrosu M. G., Martorana A., Mascia M. G., Masullo C., Mauri M., Mazzone A., Mela A., Merlo P., Micheli A., Milia A., Mina C., Montella P., Mura G., Murru M. R., Nemni R., Paci C., Pantieri R., Panza F., Parnetti L., Perini M., Pettenati C., Piccininni M., Piccoli T., Pilia G., Pinessi L., Piras M. R., Realmuto S., Ricca I., Rizzetti M. C., Rozzini L., Rubino E., Sambati L., Seripa D., Siano P., Sinforiani E., Sorrentino G., Specchio L. M., Stracciari A., Susani E., Talarico G., Tartaglione B., Tessitore A., Thomas A., Tiezzi A., Tiraboschi P., Tognoni G., Tondelli M., Trebbastoni A., Turla M., Ursini F., Valluzzi F., Vista M., Zannino G., Zanusso G., Borroni, B, Turrone, R, Galimberti, D, Nacmias, B, Alberici, A, Benussi, A, Caffarra, P, Caltagirone, C, Cappa, S, Frisoni, G, Ghidoni, R, Marra, C, Padovani, A, Rainero, I, Scarpini, E, Silani, V, Sorbi, S, Tagliavini, F, Tremolizzo, L, Bruni, A, Agosta, F, Alberoni, M, Appollonio, I, Arighi, A, Avanzi, S, Baglio, F, Benussi, L, Bianchetti, A, Binetti, G, Bonanni, L, Bottacchi, E, Bruno, G, Canevelli, M, Canu, E, Cerami, C, Chiari, A, Conti, M, Costa, A, Costa, M, Cotelli, M, Cupidi, C, Daniele, A, D'Anna, S, de Caro, M, De Togni, L, Dell'Osa, M, Di Stefano, F, Ferrarese, C, Ferrari, C, Filastro, F, Floris, G, Franceschi, M, Gennuso, M, Ghidoni, E, Giordana, M, Gragnaniello, D, Grimaldi, L, Lanari, A, Le Pira, F, Lombardi, G, Lorusso, S, Ludovico, L, Luzzi, S, Magnani, G, Manfredi, L, Marano, P, Marcone, A, Marrosu, M, Martorana, A, Mascia, M, Masullo, C, Mauri, M, Mazzone, A, Mela, A, Merlo, P, Micheli, A, Milia, A, Mina, C, Montella, P, Mura, G, Murru, M, Nemni, R, Paci, C, Pantieri, R, Panza, F, Parnetti, L, Perini, M, Pettenati, C, Piccininni, M, Piccoli, T, Pilia, G, Pinessi, L, Piras, M, Realmuto, S, Ricca, I, Rizzetti, M, Rozzini, L, Rubino, E, Sambati, L, Seripa, D, Siano, P, Sinforiani, E, Sorrentino, G, Specchio, L, Stracciari, A, Susani, E, Talarico, G, Tartaglione, B, Tessitore, A, Thomas, A, Tiezzi, A, Tiraboschi, P, Tognoni, G, Tondelli, M, Trebbastoni, A, Turla, M, Ursini, F, Valluzzi, F, Vista, M, Zannino, G, Zanusso, G, Borroni B., Turrone R., Galimberti D., Nacmias B., Alberici A., Benussi A., Caffarra P., Caltagirone C., Cappa S. F., Frisoni G. B., Ghidoni R., Marra C., Padovani A., Rainero I., Scarpini E., Silani V., Sorbi S., Tagliavini F., Tremolizzo L., Bruni A. C., Agosta F., Alberoni M., Appollonio I., Arighi A., Avanzi S., Baglio F., Benussi L., Bianchetti A., Binetti G., Bonanni L., Bottacchi E., Bruno G., Canevelli M., Canu E., Cerami C., Chiari A., Conti M. Z., Costa A., Costa M., Cotelli M., Cotelli M. S., Cupidi C., Daniele A., D'Anna S., de Caro M. F., De Togni L., Dell'Osa M. T., Di Stefano F., Ferrarese C., Ferrari C., Filastro F., Floris G., Franceschi M., Gennuso M., Ghidoni E., Giordana M. T., Gragnaniello D., Grimaldi L., Lanari A., Le Pira F., Lombardi G., Lorusso S., Ludovico L., Luzzi S., Magnani G., Manfredi L. G., Marano P., Marcone A., Marrosu M. G., Martorana A., Mascia M. G., Masullo C., Mauri M., Mazzone A., Mela A., Merlo P., Micheli A., Milia A., Mina C., Montella P., Mura G., Murru M. R., Nemni R., Paci C., Pantieri R., Panza F., Parnetti L., Perini M., Pettenati C., Piccininni M., Piccoli T., Pilia G., Pinessi L., Piras M. R., Realmuto S., Ricca I., Rizzetti M. C., Rozzini L., Rubino E., Sambati L., Seripa D., Siano P., Sinforiani E., Sorrentino G., Specchio L. M., Stracciari A., Susani E., Talarico G., Tartaglione B., Tessitore A., Thomas A., Tiezzi A., Tiraboschi P., Tognoni G., Tondelli M., Trebbastoni A., Turla M., Ursini F., Valluzzi F., Vista M., Zannino G., and Zanusso G.
Abstract: In the prospect of improved disease management and future clinical trials in Frontotemporal Dementia, it is desirable to share common diagnostic procedures. To this aim, the Italian FTD Network, under the aegis of the Italian Neurological Society for Dementia, has been established. Currently, 85 Italian Centers involved in dementia care are part of the network. Each Center completed a questionnaire on the local clinical procedures, focused on (1) clinical assessment, (2) use of neuroimaging and genetics; (3) support for patients and caregivers; (4) an opinion about the prevalence of FTD. The analyses of the results documented a comprehensive clinical and instrumental approach to FTD patients and their caregivers in Italy, with about 1,000 newly diagnosed cases per year and 2,500 patients currently followed by the participating Centers. In analogy to other European FTD consortia, future aims will be devoted to collect data on epidemiology of FTD and its subtypes and to provide harmonization of procedures among Centers.
Published: 2015

9. Spinal cord involvement during hypertensive encephalopathy: clinical and radiological findings

Author: Milia, A., Moller, J., Pilia, G., Mascia, M. G., Marchi, P., Mura, M., and Marrosu, M. G.
Published: 2008
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10. Italian Frontotemporal Dementia Network (FTD Group-SINDEM): sharing clinical and diagnostic procedures in Frontotemporal Dementia in Italy

Author: Borroni B., Turrone R., Galimberti D., Nacmias B., Alberici A., Benussi A., Caffarra P., Caltagirone C., Cappa S. F., Frisoni G. B., Ghidoni R., Marra C., Padovani A., Rainero I., Scarpini E., Silani V., Sorbi S., Tagliavini F., Tremolizzo L., Bruni A. C., Agosta F., Alberoni M., Appollonio I., Arighi A., Avanzi S., Baglio F., Benussi L., Bianchetti A., Binetti G., Bonanni L., Bottacchi E., Bruno G., Canevelli M., Canu E., Cerami C., Chiari A., Conti M. Z., Costa A., Costa M., Cotelli M., Cotelli M. S., Cupidi C., Daniele A., D'Anna S., de Caro M. F., De Togni L., Dell'Osa M. T., Di Stefano F., Ferrarese C., Ferrari C., Filastro F., Floris G., Franceschi M., Gennuso M., Ghidoni E., Giordana M. T., Gragnaniello D., Grimaldi L., Lanari A., Le Pira F., Lombardi G., Lorusso S., Ludovico L., Luzzi S., Magnani G., Manfredi L. G., Marano P., Marcone A., Marrosu M. G., Martorana A., Mascia M. G., Masullo C., Mauri M., Mazzone A., Mela A., Merlo P., Micheli A., Milia A., Mina C., Montella P., Mura G., Murru M. R., Nemni R., Paci C., Pantieri R., Panza F., Parnetti L., Perini M., Pettenati C., Piccininni M., Piccoli T., Pilia G., Pinessi L., Piras M. R., Realmuto S., Ricca I., Rizzetti M. C., Rozzini L., Rubino E., Sambati L., Seripa D., Siano P., Sinforiani E., Sorrentino G., Specchio L. M., Stracciari A., Susani E., Talarico G., Tartaglione B., Tessitore A., Thomas A., Tiezzi A., Tiraboschi P., Tognoni G., Tondelli M., Trebbastoni A., Turla M., Ursini F., Valluzzi F., Vista M., Zannino G., Zanusso G., Piccoli, T, B. Borroni, R. Turrone, D. Galimberti, B. Nacmia, A. Alberici, A. Benussi, P. Caffarra, C. Caltagirone, S. F. Cappa, G. B. Frisoni, R. Ghidoni, C. Marra, A. Padovani, I. Rainero, E. Scarpini, V. Silani, S. Sorbi, F. Tagliavini, L. Tremolizzo, A. C. Bruni, The FTD Group-SINDEM, Borroni, B, Turrone, R, Galimberti, D, Nacmias, B, Alberici, A, Benussi, A, Caffarra, P, Caltagirone, C, Cappa, Sf, Frisoni, Gb, Ghidoni, R, Marra, C, Padovani, A, Rainero, I, Scarpini, E, Silani, V, Sorbi, S, Tagliavini, F, Tremolizzo, L, Bruni, Ac, The FTD, Group-SINDEM, Agosta, F, Cappa, S, Frisoni, G, Bruni, A, Alberoni, M, Appollonio, I, Arighi, A, Avanzi, S, Baglio, F, Benussi, L, Bianchetti, A, Binetti, G, Bonanni, L, Bottacchi, E, Bruno, G, Canevelli, M, Canu, E, Cerami, C, Chiari, A, Conti, M, Costa, A, Costa, M, Cotelli, M, Cupidi, C, Daniele, A, D'Anna, S, de Caro, M, De Togni, L, Dell'Osa, M, Di Stefano, F, Ferrarese, C, Ferrari, C, Filastro, F, Floris, G, Franceschi, M, Gennuso, M, Ghidoni, E, Giordana, M, Gragnaniello, D, Grimaldi, L, Lanari, A, Le Pira, F, Lombardi, G, Lorusso, S, Ludovico, L, Luzzi, S, Magnani, G, Manfredi, L, Marano, P, Marcone, A, Marrosu, M, Martorana, A, Mascia, M, Masullo, C, Mauri, M, Mazzone, A, Mela, A, Merlo, P, Micheli, A, Milia, A, Mina, C, Montella, P, Mura, G, Murru, M, Nemni, R, Paci, C, Pantieri, R, Panza, F, Parnetti, L, Perini, M, Pettenati, C, Piccininni, M, Pilia, G, Pinessi, L, Piras, M, Realmuto, S, Ricca, I, Rizzetti, M, Rozzini, L, Rubino, E, Sambati, L, Seripa, D, Siano, P, Sinforiani, E, Sorrentino, G, Specchio, L, Stracciari, A, Susani, E, Talarico, G, Tartaglione, B, Tessitore, A, Thomas, A, Tiezzi, A, Tiraboschi, P, Tognoni, G, Tondelli, M, Trebbastoni, A, Turla, M, Ursini, F, Valluzzi, F, Vista, M, Zannino, G, and Zanusso, G
Subjects: Counseling, Male, medicine.medical_specialty, Neurology, Network, Frontotemporal dementia, Frontotemporal lobar degeneration, Genetics, Survey, Aged, Aged, 80 and over, Caregivers, Female, Frontotemporal Dementia, Humans, Italy, Prevalence, Community Networks, Information Dissemination, Medicine (all), 2708, Neurology (clinical), Psychiatry and Mental Health, Dermatology, ddc:616.89, Caregivers/psychology, Epidemiology, mental disorders, medicine, 80 and over, Dementia, Disease management (health), Psychiatry, MED/26 - NEUROLOGIA, Italian network, FRONTO Temporal dementia, business.industry, Frontotemporal dementia, Frontotemporal lobar degeneration, Network, Survey, Genetics, Counseling, General Medicine, Frontotemporal Dementia/diagnosis/epidemiology, medicine.disease, Clinical trial, Settore MED/26 - Neurologia, Neurosurgery, business
Abstract: In the prospect of improved disease management and future clinical trials in Frontotemporal Dementia, it is desirable to share common diagnostic procedures. To this aim, the Italian FTD Network, under the aegis of the Italian Neurological Society for Dementia, has been established. Currently, 85 Italian Centers involved in dementia care are part of the network. Each Center completed a questionnaire on the local clinical procedures, focused on (1) clinical assessment, (2) use of neuroimaging and genetics; (3) support for patients and caregivers; (4) an opinion about the prevalence of FTD. The analyses of the results documented a comprehensive clinical and instrumental approach to FTD patients and their caregivers in Italy, with about 1,000 newly diagnosed cases per year and 2,500 patients currently followed by the participating Centers. In analogy to other European FTD consortia, future aims will be devoted to collect data on epidemiology of FTD and its subtypes and to provide harmonization of procedures among Centers.
Published: 2014

11. Identification of a 40 kb deletion in 3q23 causing the Blepharophimosis, Ptosis and Epicanthus inversus Syndrome (BPES)

Author: Lagerstedt, K., Anneren, G., Jagell, S., Crisponi, L., Pilia, G., and Bondeson, M-L.
Subjects: Genetic disorders -- Research, Blepharoptosis -- Genetic aspects, Craniofacial dysostosis -- Genetic aspects, Chromosome deletion -- Physiological aspects, Biological sciences
Published: 2001

12. FOXL2 Mutations in type I and type II Blepharophimosis/Ptosis and Epicantus Inversus Syndrome (BPES)

Author: Uda, M., Crisponi, L., Deiana, M., Chiappe, F., Usala, G., Amati, P., Bonneau, D., Faravelli, F., Tolmie, J., Bisceglia, L., Zelante, L., Iolascon, A., Gasparini, P., Criponi, G., Cao, A., and Pilia, G.
Subjects: Human genetics -- Research, Genetic disorders -- Research, Eyelids -- Abnormalities, Blepharoptosis -- Genetic aspects, Biological sciences
Published: 2001

13. JAGGER-1 MUTATION ANALYSIS IN ITALIAN ALAGILLE SYNDROME PATIENTS

Author: Pilia, G, Uda, M., Macis, D., Frau, F., Crisponi, L., Balli, F., Barbera, C., Colombo, C., Frediani, Tullio, Iorio, R., Marazzi, Mg, and DE VIRGILIS, S.
Published: 1999

14. Jagged 1 Mutations in Italian patients with Alagille syndrome

Author: Pilia, G., Vajro, Pietro, Ruffa, G., Zancan, L., Cao, A., and Devirgiliis, S.
Subjects: pediatrics
Published: 1999

15. A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci

Author: Piemontese, M. R., Memeo, E., Carella, M., Amati, P., Chomel, J. C., Bonneau, D., Pilia, G., Cao, A., Drabkin, H., Gemmill, R., Rommens, J., Gasparini, Paolo, Piemontese, M. R., E., Memeo, M., Carella, P., Amati, Chomel, J. C., D., Bonneau, G., Pilia, A., Cao, H., Drabkin, R., Gemmill, J., Rommen, and Gasparini, Paolo
Abstract: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition consisting of congenital dysplasia of the eyelids with a reduced horizontal diameter of the palpebral fissures, droopy eyelids and epicanthus inversus. Two clinical entities have been described: type I and type II. The former is distinguished by female infertility, whereas the latter presents without other symptoms. Both type I and type II were recently mapped on the long arm of chromosome 3 (3q22-q23), suggesting a common gene may be affected. The centromeric and the telomeric limits of this region are well defined between loci D3S1316 and D3S1615, which reside approximately 5 cM apart. Here, we present the construction of a YAC contig spanning the entire BPES locus using 17 polymorphic markers, 2 STS and 28 ESTs. This region of approximately 5 Mb was covered by 31 YACs, and was supported by detailed FISH analysis. In addition, we have precisely mapped the propionyl-CoA carboxylase beta polypeptide (PCCB), the gene mutated in propionic acidemia, within this contig. Apart from providing a framework for the identification of the BPES gene, this contig will also be useful for the future identification of defects and genes mapped to this region, and for developing template resources for genomic sequencing.
Published: 1997

16. Human CD40L gene, gp39, maps to 2 megabases telomeric to HPRT

Author: Pilia G, Porta G, Padayacie M, Malcolm S, Zucchi I, Villa A, Macchi P, Vezzoni P, and Schlessinger D.
Published: 1994

17. YAC-BASED CONTIGS SPANNING XQ27.1-]Q28

Author: ZUCCHI, I, MUMM, S, PILIA, G, LITTLE, RD, JOHNSON, S, YOON, JY, REINBOLD, R, SMITH, C, and SCHLESSINGER, D
Subjects: x chromosome, mapping
Published: 1993

18. Regional localization in Xq25-Xq26 of a 2 MB YAC Contig using a hybrid panel

Author: Zucchi I, Fini S, Pengue G, Pilia G, Mumm S, Reinbold R, and A Forabosco.
Subjects: YAC contig, X Chromosome mapping
Published: 1993

19. Use of yeast artificial chromosomes to study the genomic organization of human dbl proto-oncogene

Author: Palmieri G, Pilia G, Schlessinger D, De Franciscis V, Vecchio G, and D'Urso M.
Published: 1993

20. Identification of a 40kb deletion in 3q23 causing the Blepharophimosis Epicanthus inversus Syndrome

Author: Lagerstedt, K, Annerén, G, Jagell, S, Crisponi, L, Pilia, G, Bondeson, M-L, Lagerstedt, K, Annerén, G, Jagell, S, Crisponi, L, Pilia, G, and Bondeson, M-L
Published: 2001

21. Spinal cord involvement during hypertensive encephalopathy: clinical and radiological findings

Author: Milia, A., primary, Moller, J., additional, Pilia, G., additional, Mascia, M. G., additional, Marchi, P., additional, Mura, M., additional, and Marrosu, M. G., additional
Published: 2007
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22. Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28

Author: Schlessinger D, Little RD, Freije D, Abidi F, Zucchi I, Porta G, Pilia G, Nagaraja R, Johnson S, Yoon JY, Kere J, Palmieri G, Ciccodicola A, Montanaro V, Romano G, Casamassimi A, and D'Urso M
Published: 1991

23. CLONING OF THE FRAGILE-X LOCUS IN THE CONTEXT OF YEAST ARTIFICIAL CHROMOSOME-BASED MAPPING OF XQ24-28

Author: Schlessinger, D, Zucchi, I, Nagaraja, R, Little, Rd, Abidi, F, Freije, D, Pilia, G, Porta, G, Yoon, Jy, Johnson, Sk, Palmieri, G, Montanaro, V, Romano, G, Casamassimi, A, Ciccodicola, A, and Durso, M
Published: 1991

24. [Postoperative hypo-osmolar coma: presentation of a clinical case]

Author: Bianco F, Persichetti R, Pilia G, Maccari M, Giuseppe Maria Ettorre, Albano Barilli R, Arfuso C, and De Devitis R
Subjects: Male, Postoperative Complications, Osmolar Concentration, Humans, Hernia, Inguinal, Coma, Emergencies, Middle Aged, Hyponatremia
Published: 1990

25. Jagged-1 MUTATIONS IN ITALIAN PATIENTS WITH ALAGILLE SYNDROME

Author: Pilia, G., primary, Uda, M., additional, Macis, D., additional, Frau, F., additional, Balli, F., additional, Barbera, C., additional, Colombo, C., additional, Frediani, T., additional, Ganduglia, P., additional, Iorio, R., additional, Marazzi, M. G., additional, Marcellini, M., additional, Musumeci, S., additional, Nebbia, G., additional, Vajro, P., additional, Ruffa, G., additional, Zancan, L., additional, Cao, A., additional, and DeVirgilis, S., additional
Published: 1999
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26. Monitoring of intrathoracic blood volume in early septic patients: its correlation with survival

Author: Turani, F, Colella, DF, Leonardis, F, Andreozzi, G, Celeste, G, Pilia, G, Gianni, G, Dauri, PF, Curatola, D, and Sabato, AF
Subjects: Meeting Abstract
Published: 2002

27. Cellular Retinol Binding Protein 1 (RBP1): A frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene

Author: Bisceglia, L, primary, d»Ambrosio, L, additional, Piemontese, M.R, additional, Carella, M, additional, Amati, P, additional, Bonneau, D, additional, Pilia, G, additional, Gasparini, P, additional, and Zelante, L, additional
Published: 1998
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28. Multiple Sp1 sites efficiently drive transcription of the TATA-less promoter of the human glypican 3 (GPC3) gene

Author: Huber, R., primary, Schlessinger, D., additional, and Pilia, G., additional
Published: 1998
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29. Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

Author: Lindsay, S, primary, Ireland, M, additional, O'Brien, O, additional, Clayton-Smith, J, additional, Hurst, J A, additional, Mann, J, additional, Cole, T, additional, Sampson, J, additional, Slaney, S, additional, Schlessinger, D, additional, Burn, J, additional, and Pilia, G, additional
Published: 1997
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30. X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content.

Author: Nagaraja, R, primary, MacMillan, S, additional, Kere, J, additional, Jones, C, additional, Griffin, S, additional, Schmatz, M, additional, Terrell, J, additional, Shomaker, M, additional, Jermak, C, additional, Hott, C, additional, Masisi, M, additional, Mumm, S, additional, Srivastava, A, additional, Pilia, G, additional, Featherstone, T, additional, Mazzarella, R, additional, Kesterson, S, additional, McCauley, B, additional, Railey, B, additional, Burough, F, additional, Nowotny, V, additional, D'Urso, M, additional, States, D, additional, Brownstein, B, additional, and Schlessinger, D, additional
Published: 1997
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31. 4.5-Mb YAC STS contig at 50-kb resolution, spanning Xq25 deletions in two patients with lymphoproliferative syndrome.

Author: Porta, G, primary, MacMillan, S, additional, Nagaraja, R, additional, Mumm, S, additional, Zucchi, I, additional, Pilia, G, additional, Maio, S, additional, Featherstone, T, additional, and Schlessinger, D, additional
Published: 1997
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32. Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families

Author: Hughes-Benzie, R.M., primary, Pilia, G., additional, Xuan, J.Y., additional, Hunter, A.G.W., additional, Chen, E., additional, Golabi, M., additional, Hurst, J.A., additional, Kobori, J., additional, Marymee, K., additional, Pagon, R.A., additional, Punnett, H.H., additional, Schelley, S., additional, Tolmie, J.L., additional, Wohlferd, M.M., additional, Grossman, T., additional, Schlessinger, D., additional, and MacKenzie, A.E., additional
Published: 1996
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33. Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann syndrome

Author: Gedeon, A. K., primary, Kozman, H. M., additional, Robinson, H., additional, Pilia, G., additional, Schlessinger, D., additional, Turner, G., additional, and Mulley, J. C., additional
Published: 1996
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34. Refined genetic mapping of X-linked thoracoabdominal syndrome

Author: Carmi, Rivka, primary, Carmi, R., additional, Weissenbach, J., additional, Pilia, G., additional, Mumm, S., additional, and Weinstein, Y., additional
Published: 1996
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35. Dinucleotide repeat polymorphism close to IDS gene in Xq27.3–q28 (DXS1113)

Author: Weber, C., primary, Outdet, C., additional, Johnson, S., additional, Pilia, G., additional, Schlessinger, D., additional, and Hanauer, A., additional
Published: 1993
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36. Yeast artificial chromosomes spanning 8 megabases and 10-15 centimorgans of human cytogenetic band Xq26.

Author: Little, R. D., primary, Pilia, G., additional, Johnson, S., additional, D'Urso, M., additional, and Schlessinger, D., additional
Published: 1992
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37. A novel δ-thalassemia mutation A G→C substitution at codon 30 of the δ-globin gene in a person of Southern Italian origin

Author: Loudianos, G., primary, Murru, S., additional, Ristaldi, M. S., additional, Cossu, P., additional, Pilia, G., additional, Porcu, S., additional, Sciarratta, G. V., additional, Parodi, M. I., additional, Cao, A., additional, and Pirastu, M., additional
Published: 1992
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38. Glypican 3 and glypican 4 are juxtaposed in Xq26.1

Author: Huber, R., Mazzarella, R., Chen, C.-N., Chen, E., Ireland, M., Lindsay, S., Pilia, G., and Crisponi, L.
Published: 1998
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39. Recombination trapping: an in-vivo approach to recover cDNAs encoded in YACs

Author: Mazzarella, R. and Pilia, G.
Published: 1998
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40. Stable integration and expression in mouse cells of yeast artificial chromosomes harboring human genes.

Author: Eliceiri, B, Labella, T, Hagino, Y, Srivastava, A, Schlessinger, D, Pilia, G, Palmieri, G, and D'Urso, M
Abstract: We have developed a way to fit yeast artificial chromosomes (YACs) with markers that permit the selection of stably transformed mammalian cells, and have determined the fate and expression of such YACs containing the genes for human ribosomal RNA (rDNA) or glucose-6-phosphate dehydrogenase (G6PD). The YACs in the yeast cell are "retrofitted" with selectable markers by homologous recombination with the URA3 gene of one vector arm. The DNA fragment introduced contains a LYS2 marker selective in yeast and a thymidine kinase (TK) marker selective in TK-deficient cells, bracketed by portions of the URA3 sequence that disrupt the endogenous gene during the recombination event. Analyses of transformed L-M TK- mouse cells showed that YACs containing rDNA or G6PD were incorporated in essentially intact form into the mammalian cell DNA. For G6PD, a single copy of the transfected YAC was found in each of two transformants analyzed and was fully expressed, producing the expected human isozyme as well as the heterodimer composed of the human gene product and the endogenous mouse gene product.
Published: 1991
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41. A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci

Author: Piemontese MR, Memeo E, Carella M, Amati P, Jean Claude Chomel, Bonneau D, Pilia G, Cao A, Drabkin H, Gemmill R, Rommens J, Zelante L, Gasparini P, and Bisceglia L
Subjects: Genetic Markers, Methylmalonyl-CoA Decarboxylase, Polymorphism, Genetic, Carboxy-Lyases, Chromosome Mapping, Syndrome, Blepharophimosis, Polymerase Chain Reaction, Blepharoptosis, Humans, Female, Chromosomes, Human, Pair 3, Propionates, Fluorescent Antibody Technique, Indirect, Amino Acid Metabolism, Inborn Errors, Chromosomes, Artificial, Yeast, Infertility, Female, In Situ Hybridization, Fluorescence, DNA Primers, Repetitive Sequences, Nucleic Acid, Sequence Tagged Sites
Abstract: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition consisting of congenital dysplasia of the eyelids with a reduced horizontal diameter of the palpebral fissures, droopy eyelids and epicanthus inversus. Two clinical entities have been described: type I and type II. The former is distinguished by female infertility, whereas the latter presents without other symptoms. Both type I and type II were recently mapped on the long arm of chromosome 3 (3q22-q23), suggesting a common gene may be affected. The centromeric and the telomeric limits of this region are well defined between loci D3S1316 and D3S1615, which reside approximately 5 cM apart. Here, we present the construction of a YAC contig spanning the entire BPES locus using 17 polymorphic markers, 2 STS and 28 ESTs. This region of approximately 5 Mb was covered by 31 YACs, and was supported by detailed FISH analysis. In addition, we have precisely mapped the propionyl-CoA carboxylase beta polypeptide (PCCB), the gene mutated in propionic acidemia, within this contig. Apart from providing a framework for the identification of the BPES gene, this contig will also be useful for the future identification of defects and genes mapped to this region, and for developing template resources for genomic sequencing.

42. The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey

Author: Innocenzo Rainero, Amalia C. Bruni, Camillo Marra, Annachiara Cagnin, Laura Bonanni, Chiara Cupidi, Valentina Laganà, Elisa Rubino, Alessandro Vacca, Raffaele Di Lorenzo, Paolo Provero, Valeria Isella, Nicola Vanacore, Federica Agosta, Ildebrando Appollonio, Paolo Caffarra, Cinzia Bussè, Renato Sambati, Davide Quaranta, Valeria Guglielmi, Giancarlo Logroscino, Massimo Filippi, Gioacchino Tedeschi, Carlo Ferrarese, the SINdem COVID-19 Study Group, Erica Gallo, Alberto Grassini, Andrea Marcinnò, Fausto Roveta, Paola De Martino, Francesca Frangipane, Gianfranco Puccio, Rosanna Colao, Maria Mirabelli, Chiara Terracciano, Federica Lino, Stefano Mozzetta, Gianmarco Gazzola, Giulia Camporese, Simona Sacco, Maria Carmela Lechiara, Claudia Carrarini, Mirella Russo, Alfonsina Casa lena, Patrizia Sucapane, Pietro Tiraboschi, Paola Caroppo, Veronica Redaelli, Giuseppe Di Fede, Daniela Coppa, Lenino Peluso, Pasqualina Insarda, Matteo De Bartolo, Sabrina Esposito, Alessandro Iavarone, Carmine Fuschillo, Elena Salvatore, Chiara Criscuolo, Luisa Sambati, Rossella Santoro, Daniela Gragnaniello, Ilaria Pedriali, Livia Ludovico, Annalisa Chiari, Andrea Fabbo, Petra Bevilacqua, Chiara Galli, Silvia Magarelli, Gianfranco Spalletta, Nerisa Banaj, Giulia Caruso, Desirée Estela Porcari, Franco Giubilei, Anna Rosa Casini, Francesca Ursini, Giuseppe Bruno, Stefano Boffelli, Michela Brambilla, Giuseppe Magnani, Francesca Caso, Edoardo G. Spinelli, Elena Sinforiani, Alfredo Costa, Simona Luzzi, Gabriella Cacchiò, A.I.M.A. –sez Parma, Marta Perini, Rossano Angeloni, Cinzia Giuli, Katia Fabi, Marco Guidi, Cristina Paci, Annaelisa Castellano, Elena Carapelle, Rossella Petrucci, Miriam Accogli, Giovanna Nicoletta Trevisi, Serena Renna, Antonella Vasquez Giuliano, Fulvio Da Re, Antonio Milia, Giuseppina Pilia, Maria Giuseppina Mascia, Valeria Putzu, Tommaso Piccoli, Luca Cuffaro, Roberto Monastero, Antonella Battaglia, Valeria Blandino, Federica Lupo, Eduardo Cumbo, Antonina Luca, Giuseppe Caravaglios, Annalisa Vezzosi, Valentina Bessi, Gloria Tognoni, Valeria Calsolaro, Giulia Lucarelli, Serena Amici, Alberto Trequattrini, Salvatore Pezzuto, Patrizia Mecocci, Giulia Caironi, Barbara Boselli, Marino Formilan, Alessandra Coin, Laura De Togni, Francesca Sala, Giulia Sandri, Maurizio Gallucci, Anna Paola Mazzarolo, Cristina Bergamelli, Serena Passoni, Rainero, I., Bruni, A. C., Marra, C., Cagnin, A., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Di Lorenzo, R., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Busse, C., Sambati, R., Quaranta, D., Guglielmi, V., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I, Bruni, A, Marra, C, Cagnin, A, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Di Lorenzo, R, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Busse, C, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Terracciano, C, Lino, F, Mozzetta, S, Gazzola, G, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casa Lena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Fuschillo, C, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Spalletta, G, Banaj, N, Caruso, G, Porcari, E, Giubilei, F, Casini, A, Ursini, F, Bruno, G, Boffelli, S, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Sinforiani, E, Costa, A, Luzzi, S, Cacchiò, G, Perini, M, Angeloni, R, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Carapelle, E, Petrucci, R, Accogli, M, Trevisi, G, Renna, S, Vasquez Giuliano, A, Da Re, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Lucarelli, G, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Caironi, G, Boselli, B, Formilan, M, Coin, A, De Togni, L, Sala, F, Sandri, G, Gallucci, M, Mazzarolo, A, Bergamelli, C, Passoni, S, Rainero I., Bruni A.C., Marra C., Cagnin A., Bonanni L., Cupidi C., Lagana V., Rubino E., Vacca A., Lorenzo R.D., Provero P., Isella V., Vanacore N., Agosta F., Appollonio I., Caffarra P., Busse C., Sambati R., Quaranta D., Guglielmi V., Logroscino G., Filippi M., Tedeschi G., Ferrarese C., Gallo E., Grassini A., Marcinno A., Roveta F., De Martino P., Frangipane F., Puccio G., Colao R., Mirabelli M., Terracciano C., Lino F., Mozzetta S., Gazzola G., Camporese G., Sacco S., Lechiara M.C., Carrarini C., Russo M., Casa Lena A., Sucapane P., Tiraboschi P., Caroppo P., Redaelli V., Di Fede G., Coppa D., Peluso L., Insarda P., De Bartolo M., Esposito S., Iavarone A., Fuschillo C., Salvatore E., Criscuolo C., Sambati L., Santoro R., Gragnaniello D., Pedriali I., Ludovico L., Chiari A., Fabbo A., Bevilacqua P., Galli C., Magarelli S., Spalletta G., Banaj N., Caruso G., Estela Porcari D., Giubilei F., Casini A.R., Ursini F., Bruno G., Boffelli S., Brambilla M., Magnani G., Caso F., Spinelli E.G., Sinforiani E., Costa A., Luzzi S., Cacchio G., Perini M., Angeloni R., Giuli C., Fabi K., Guidi M., Paci C., Castellano A., Carapelle E., Petrucci R., Accogli M., Nicoletta Trevisi G., Renna S., Giuliano A.V., Da Re F., Milia A., Pilia G., Mascia M.G., Putzu V., Piccoli T., Cuffaro L., Monastero R., Battaglia A., Blandino V., Lupo F., Cumbo E., Luca A., Caravaglios G., Vezzosi A., Bessi V., Tognoni G., Calsolaro V., Lucarelli G., Amici S., Trequattrini A., Pezzuto S., Mecocci P., Caironi G., Boselli B., Formilan M., Coin A., De Togni L., Sala F., Sandri G., Gallucci M., Mazzarolo A.P., Bergamelli C., Passoni S., Lorenzo, R. D., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Terracciano, C., Lino, F., Mozzetta, S., Gazzola, G., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casa Lena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Fuschillo, C., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Spalletta, G., Banaj, N., Caruso, G., Estela Porcari, D., Giubilei, F., Casini, A. R., Ursini, F., Bruno, G., Boffelli, S., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Sinforiani, E., Costa, A., Luzzi, S., Cacchio, G., Perini, M., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Nicoletta Trevisi, G., Renna, S., Giuliano, A. V., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Lucarelli, G., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Caironi, G., Boselli, B., Formilan, M., Coin, A., De Togni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., and Passoni, S.
Subjects: Aging, Pediatrics, medicine.medical_specialty, Cognitive Neuroscience, lcsh:RC321-571, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Alzheimer’s disease, BPSD, caregiver burden, COVID-19, dementia, quarantine, medicine, Dementia, BPSD, 030212 general & internal medicine, Vascular dementia, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Alzheimer’s disease, caregiver burden, COVID-19, dementia, quarantine, Depression (differential diagnoses), Original Research, M-PSI/05 - PSICOLOGIA SOCIALE, MED/26 - NEUROLOGIA, Dementia with Lewy bodies, Family caregivers, business.industry, Odds ratio, medicine.disease, Settore MED/26 - NEUROLOGIA, Distress, MED/17 - MALATTIE INFETTIVE, business, 030217 neurology & neurosurgery, Neuroscience, Frontotemporal dementia
Abstract: IntroductionPrevious studies showed that quarantine for pandemic diseases is associated with several psychological and medical effects. The consequences of quarantine for COVID-19 pandemic in patients with dementia are unknown. We investigated the clinical changes in patients with Alzheimer’s disease and other dementias, and evaluated caregivers’ distress during COVID-19 quarantine.MethodsThe study involved 87 Italian Dementia Centers. Patients with Alzheimer’s Disease (AD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) were eligible for the study. Family caregivers of patients with dementia were interviewed by phone in April 2020, 45 days after quarantine declaration. Main outcomes were patients’ changes in cognitive, behavioral, and motor symptoms. Secondary outcomes were effects on caregivers’ psychological features.Results4913 patients (2934 females, 1979 males) fulfilled the inclusion criteria. Caregivers reported a worsening in cognitive functions in 55.1% of patients, mainly in subjects with DLB and AD. Aggravation of behavioral symptoms was observed in 51.9% of patients. In logistic regression analysis, previous physical independence was associated with both cognitive and behavioral worsening (odds ratio 1.85 [95% CI 1.42–2.39], 1.84 [95% CI 1.43–2.38], respectively). On the contrary, pandemic awareness was a protective factor for the worsening of cognitive and behavioral symptoms (odds ratio 0.74 [95% CI 0.65–0.85]; and 0.72 [95% CI 0.63–0.82], respectively). Approximately 25.9% of patients showed the onset of new behavioral symptoms. A worsening in motor function was reported by 36.7% of patients. Finally, caregivers reported a high increase in anxiety, depression, and distress.ConclusionOur study shows that quarantine for COVID-19 is associated with an acute worsening of clinical symptoms in patients with dementia as well as increase of caregivers’ burden. Our findings emphasize the importance to implement new strategies to mitigate the effects of quarantine in patients with dementia.
Published: 2021

43. Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia

Author: Annachiara Cagnin, Raffaele Di Lorenzo, Camillo Marra, Laura Bonanni, Chiara Cupidi, Valentina Laganà, Elisa Rubino, Alessandro Vacca, Paolo Provero, Valeria Isella, Nicola Vanacore, Federica Agosta, Ildebrando Appollonio, Paolo Caffarra, Ilaria Pettenuzzo, Renato Sambati, Davide Quaranta, Valeria Guglielmi, Giancarlo Logroscino, Massimo Filippi, Gioacchino Tedeschi, Carlo Ferrarese, Innocenzo Rainero, Amalia C. Bruni, SINdem COVID-19 Study Group, Erica Gallo, Alberto Grassini, Andrea Marcinnò, Fausto Roveta, Paola De Martino, Francesca Frangipane, Gianfranco Puccio, Rosanna Colao, Maria Mirabelli, Noemi Martellacci, Federica Lino, Stefano Mozzetta, Cinzia Bussè, Giulia Camporese, Simona Sacco, Maria Carmela Lechiara, Claudia Carrarini, Mirella Russo, Alfonsina Casalena, Patrizia Sucapane, Pietro Tiraboschi, Paola Caroppo, Veronica Redaelli, Giuseppe Di Fede, Daniela Coppa, Lenino Peluso, Pasqualina Insarda, Matteo De Bartolo, Sabrina Esposito, Alessandro Iavarone, Anna Vittoria Marta Orsini, Elena Salvatore, Chiara Criscuolo, Luisa Sambati, Rossella Santoro, Daniela Gragnaniello, Ilaria Pedriali, Livia Ludovico, Annalisa Chiari, Andrea Fabbo, Petra Bevilacqua, Chiara Galli, Silvia Magarelli, Marta Perini, Gianfranco Spalletta, Nerisa Banaj, Desirée Estela Porcari, Giulia Caruso, Virginia Cipollini, Anna Rosa Casini, Francesca Ursini, Giuseppe Bruno, Renzo Rozzini, Michela Brambilla, Giuseppe Magnani, Francesca Caso, Edoardo G. Spinelli, Matteo Cotta Ramusino, Giulia Perini, Simona Luzzi, Gabriella Cacchiò, Rossano Angeloni, Cinzia Giuli, Katia Fabi, Marco Guidi, Cristina Paci, Annaelisa Castellano, Elena Carapelle, Rossella Petrucci, Miriam Accogli, Gianluigi Calabrese, Giovanna Nicoletta Trevisi, Brigida Coluccia, Antonella Vasquez Giuliano, Marcella Caggiula, Fulvio Da Re, Antonio Milia, Giuseppina Pilia, Maria Giuseppina Mascia, Valeria Putzu, Tommaso Piccoli, Luca Cuffaro, Roberto Monastero, Antonella Battaglia, Valeria Blandino, Federica Lupo, Eduardo Cumbo, Luca Antonina, Giuseppe Caravaglios, Annalisa Vezzosi, Valentina Bessi, Gloria Tognoni, Valeria Calsolaro, Enrico Mossello, Serena Amici, Alberto Trequattrini, Salvatore Pezzuto, Patrizia Mecocci, Giulia Fichera, Samantha Pradelli, Marino Formilan, Alessandra Coin, Laura Detogni, Francesca Sala, Giulia Sandri, Maurizio Gallucci, Anna Paola Mazzarolo, Cristina Bergamelli, Cagnin, A., Di Lorenzo, R., Marra, C., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Pettenuzzo, I., Sambati, R., Quaranta, D., Guglielmi, V., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I., Bruni, A. C., Cagnin A., Di Lorenzo R., Marra C., Bonanni L., Cupidi C., Lagana V., Rubino E., Vacca A., Provero P., Isella V., Vanacore N., Agosta F., Appollonio I., Caffarra P., Pettenuzzo I., Sambati R., Quaranta D., Guglielmi V., Logroscino G., Filippi M., Tedeschi G., Ferrarese C., Rainero I., Bruni A.C., Gallo E., Grassini A., Marcinno A., Roveta F., De Martino P., Frangipane F., Puccio G., Colao R., Mirabelli M., Martellacci N., Lino F., Mozzetta S., Busse C., Camporese G., Sacco S., Lechiara M.C., Carrarini C., Russo M., Casalena A., Sucapane P., Tiraboschi P., Caroppo P., Redaelli V., Di Fede G., Coppa D., Peluso L., Insarda P., De Bartolo M., Esposito S., Iavarone A., Orsini A.V.M., Salvatore E., Criscuolo C., Sambati L., Santoro R., Gragnaniello D., Pedriali I., Ludovico L., Chiari A., Fabbo A., Bevilacqua P., Galli C., Magarelli S., Perini M., Spalletta G., Banaj N., Porcari D.E., Caruso G., Cipollini V., Casini A.R., Ursini F., Bruno G., Rozzini R., Brambilla M., Magnani G., Caso F., Spinelli E.G., Ramusino M.C., Perini G., Luzzi S., Cacchio G., Angeloni R., Giuli C., Fabi K., Guidi M., Paci C., Castellano A., Carapelle E., Petrucci R., Accogli M., Calabrese G., Trevisi G.N., Coluccia B., Giuliano A.V., Caggiula M., Da Re F., Milia A., Pilia G., Mascia M.G., Putzu V., Piccoli T., Cuffaro L., Monastero R., Battaglia A., Blandino V., Lupo F., Cumbo E., Antonina L., Caravaglios G., Vezzosi A., Bessi V., Tognoni G., Calsolaro V., Mossello E., Amici S., Trequattrini A., Pezzuto S., Mecocci P., Fichera G., Pradelli S., Formilan M., Coin A., Detogni L., Sala F., Sandri G., Gallucci M., Mazzarolo A.P., Bergamelli C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Martellacci, N., Lino, F., Mozzetta, S., Busse, C., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casalena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Orsini, A. V. M., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Perini, M., Spalletta, G., Banaj, N., Porcari, D. E., Caruso, G., Cipollini, V., Casini, A. R., Ursini, F., Bruno, G., Rozzini, R., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Ramusino, M. C., Perini, G., Luzzi, S., Cacchio, G., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Calabrese, G., Trevisi, G. N., Coluccia, B., Giuliano, A. V., Caggiula, M., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Antonina, L., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Mossello, E., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Fichera, G., Pradelli, S., Formilan, M., Coin, A., Detogni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Cagnin, A, Di Lorenzo, R, Marra, C, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Pettenuzzo, I, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, and Bruni, A
Subjects: Pediatrics, medicine.medical_specialty, lcsh:RC435-571, Irritability, Behavioral symptoms, 03 medical and health sciences, 0302 clinical medicine, lcsh:Psychiatry, Psychological symptoms, medicine, Dementia, Apathy, Vascular dementia, Behavioral and psychological symptoms, Behavioral symptoms, Caregiver, Coronavirus disease, Dementia, Gender, Psychological symptoms, Quarantine, Original Research, MED/26 - NEUROLOGIA, Psychiatry, Behavioral symptom, Dementia with Lewy bodies, Family caregivers, business.industry, Behavioral and psychological symptoms, Gender, Behavioral and psychological symptom, Caregiver burden, medicine.disease, Multiinfarct dementia, Caregiver, 030227 psychiatry, Coronavirus disease, Quarantine, Psychiatry and Mental health, Settore MED/26 - NEUROLOGIA, MED/17 - MALATTIE INFETTIVE, MED/25 - PSICHIATRIA, M-PSI/08 - PSICOLOGIA CLINICA, Psychological symptom, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of quarantine in frail elderly subjects with special needs, such as patients with dementia, have been poorly investigated. The aim of this study was to assess modifications of neuropsychiatric symptoms during quarantine in patients with dementia and their caregivers. Methods: This is a sub-study of a multicenter nation-wide survey. A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and vascular dementia (VD), followed regularly at 87 Italian memory clinics. Variations in behavioral and psychological symptoms (BPSD) were collected after 1 month since quarantine declaration and associations with disease type, severity, gender, and caregiver’s stress burden were analyzed. Results: A total of 4,913 caregivers participated in the survey. Increased BPSD was reported in 59.6% of patients as worsening of preexisting symptoms (51.9%) or as new onset (26%), and requested drug modifications in 27.6% of these cases. Irritability, apathy, agitation, and anxiety were the most frequently reported worsening symptoms and sleep disorder and irritability the most frequent new symptoms. Profile of BPSD varied according to dementia type, disease severity, and patients’ gender. Anxiety and depression were associated with a diagnosis of AD (OR 1.35, CI: 1.12–1.62), mild to moderate disease severity and female gender. DLB was significantly associated with a higher risk of worsening hallucinations (OR 5.29, CI 3.66–7.64) and sleep disorder (OR 1.69, CI 1.25–2.29), FTD with wandering (OR 1.62, CI 1.12–2.35), and change of appetite (OR 1.52, CI 1.03–2.25). Stress-related symptoms were experienced by two-thirds of caregivers and were associated with increased patients’ neuropsychiatric burden (p
Published: 2020

44. Cellular Retinol Binding Protein 1 (RBP1): A frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene

Author: Dominique Bonneau, Patrizia Amati, Maria Rosaria Piemontese, Giuseppe Pilia, Massimo Carella, Paolo Gasparini, Luigi Bisceglia, Leopoldo Zelante, L. D'Ambrosio, Bisceglia, L, D'Ambrosio, L, Piemontese, Mr, Carella, M, Amati, P, Bonneau, D, Pilia, G, Gasparini, Paolo, and Zelante, L.
Subjects: Cellular Retinol Binding Protein, medicine.medical_specialty, Blepharophimosis, Biology, chemistry.chemical_compound, Ptosis, Internal medicine, medicine, Blepharoptosis, Humans, Molecular Biology, Gene, Polymorphism, Single-Stranded Conformational, Genetics, Polymorphism, Genetic, Intron, Retinol, Chromosome Mapping, Retinol-Binding Proteins, Cellular, Syndrome, Cell Biology, medicine.disease, Introns, Retinol-Binding Proteins, Retinol binding protein, Endocrinology, Genes, chemistry, Chromosomes, Human, Pair 3, medicine.symptom, RBP1
Published: 1998

45. Jagged-1 mutations in italian patients with alagille syndrome

Author: Fiorella Balli, A. Cao, Salvatore Musumeci, Giuseppe Pilia, Cristiana Barbera, G. Ruffa, Gabriella Nebbia, P. Ganduglia, Pietro Vajro, Carla Colombo, Tullio Frediani, F Frau, Manuela Uda, Raffaele Iorio, M.G. Marazzi, S. DeVirgilis, Dolores Macis, Matilde Marcellini, Lucia Zancan, Pilia, G., Uda, M., Macis, D., Frau, F., Balli, F., Barbera, C., Colombo, C., Frediani, T., Ganduglia, P., Iorio, R., Marazzi, M. G., Marcellini, M., Musumeci, S., Nebbia, G., Vajro, P., Ruffa, G., Zancan, L., Cao, A., and Devirgilis, S.
Subjects: Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Alagille syndrome, Gastroenterology, Medicine, business, medicine.disease
Published: 1999

46. Jagged-1 mutation analysis in Italian Alagille syndrome patients

Author: Salvatore Musumeci, Raffaele Iorio, Gabriella Nebbia, M. Grazia Marazzi, Lucia Zancan, Tullio Frediani, Laura Crisponi, Giuseppe Ruffa, Dolores Macis, Manuela Uda, F Frau, Giuseppe Pilia, Matilde Marcellini, Cristiana Barbera, Carla Colombo, Rosanna Gatti, Stefano DeVirgilis, Fiorella Balli, Pietro Vajro, Antonio Cao, Pilia, G, Uda, M, Macis, D, Frau, F, Crisponi, L, Balli, F, Barbera, C, Colombo, C, Frediani, T, Gatti, R, Iorio, Raffaele, and Marazzi, Mg
Subjects: Male, JAG1, Genotype, RNA Splicing, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Biology, Frameshift mutation, Alagille syndrome, Genetics, medicine, Humans, Missense mutation, Serrate-Jagged Proteins, Amino Acid Sequence, Child, Frameshift Mutation, Gene, Genetics (clinical), DNA Primers, Genes, Dominant, Sequence Deletion, Splice site mutation, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Calcium-Binding Proteins, Membrane Proteins, Proteins, DNA, medicine.disease, Alagille Syndrome, Phenotype, Italy, Codon, Nonsense, Mutation, Intercellular Signaling Peptides and Proteins, Female, Haploinsufficiency, Jagged-1 Protein
Abstract: Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged-1 (JAG1) gene, which encodes a ligand of Notch, has recently been found mutated in AGS. In this study, mutation analysis of the JAG1 gene performed on 20 Italian AGS patients led to the identification of 15 different JAG1 mutations, including a large deletion of the 20p12 region, six frameshift, three nonsense, three splice-site, and two missense mutations. The two novel missense mutations were clustered in the 5′ region, while the remaining mutations were scattered throughout the gene. The spectrum of mutations in Italian patients was similar to that previously reported. We also studied in detail a complex splice site mutation, 3332dupl8bp, which was shown to lead to an abnormal JAG1 mRNA, resulting in a premature stop codon. With the exception of the missense mutations, the majority of the JAG1 mutations are therefore likely to produce truncated proteins. Since the phenotype of the patient with a complete deletion of the JAG1 gene is indistinguishable from that of patients with intragenic mutations, our study further supports the hypothesis that haploinsufficiency is the most common mechanism involved in AGS pathogenesis. Furthermore, our data confirmed the absence of a correlation between the genotype of the JAG1 gene and the AGS phenotype. Hum Mutat 14:394–400, 1999. © 1999 Wiley-Liss, Inc.
Published: 1999

47. A Submicroscopic Deletion in Xq26 Associated with Familial Situs Ambiguus

Author: David P. Witte, Giuseppe Pilia, Robert J. Hopkin, Marinella Gebbia, Andrea M. Peier, Andrea Ballabio, Brett Casey, William J. Craigen, Giovanni Battista Ferrero, Lisa G. Shaffer, David Schlessinger, Ferrero, G. B., Gebbia, M, Pilia, G, Witte, D, Peier, A, Hopkin, R. J., Craigen, W. J., Shaffer, L. G., Schlessinger, D, Ballabio, Andrea, and Casey, B.
Subjects: Heart Defects, Congenital, Male, X Chromosome, Genetic Linkage, Situs ambiguus, Biology, Genomic Imprinting, 03 medical and health sciences, Genetic linkage, Genotype, Genetics, medicine, Humans, Genetics(clinical), Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Sex Chromosome Aberrations, Genetics (clinical), X chromosome, Body Patterning, Sequence Tagged Sites, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Situs Inversus, medicine.disease, Pedigree, Viscera, Situs inversus, Female, Abnormality, Genomic imprinting, Heterotaxy, Gene Deletion, Spleen, Research Article
Abstract: Abnormal left-right-axis formation results in heterotaxy, a multiple-malformation syndrome often characterized by severe heart defects, splenic abnormalities, and gastrointestinal malrotation. Previously we had studied a large family in which a gene for heterotaxy, HTX1, was mapped to a 19-cM region in Xq24-q27.1. Further analysis of this family has revealed two recombinations that place HTX1 between DXS300 and DXS1062, an interval spanning approximately 1.3 Mb in Xq26.2. In order to provide independent confirmation of HTX1 localization, a PCR-based search for submicroscopic deletions in this region was performed in unrelated males with sporadic or familial heterotaxy. A cluster of sequence-tagged sites failed to amplify in an individual who also had a deceased, affected brother. FISH identified the mother as a carrier of the deletion, which arose as a new mutation from the maternal grandfather. The deletion interval spans 600-1,100 kb and lies wholly within the 1.3-Mb region identified by recombination. Discovery of this deletion supports localization of HTX1 to Xq26.2 and reveals the first molecular-genetic abnormality associated with human left-right-asymmetry defects.
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48. Comparison of Two Therapeutic Approaches of Cerebellar Transcranial Direct Current Stimulation in a Sardinian Family Affected by Spinocerebellar Ataxia 38: a Clinical and Computerized 3D Gait Analysis Study.

Author: Sanna A, Pau M, Pilia G, Porta M, Casu G, Secci V, Cartella E, Demattia A, Firinu S, Pau C, Milia A, Cocco E, and Tacconi P
Subjects: Adult, Female, Humans, Male, Middle Aged, Gait Analysis methods, Italy, Treatment Outcome, Cerebellum, Cross-Over Studies, Spinocerebellar Ataxias therapy, Spinocerebellar Ataxias genetics, Spinocerebellar Ataxias physiopathology, Transcranial Direct Current Stimulation methods
Abstract: Spinocerebellar ataxia 38 (SCA 38) is a very rare autosomal dominant inherited disorder caused by a mutation in ELOV5 gene, specifically expressed in cerebellar Purkinje cells, encoding an enzyme involved in the synthesis of fatty acids. Seven symptomatic SCA 38 patients of a Sardinian family were administered 15 sessions of cerebellar anodal transcranial direct current stimulation (tDCS) in a cross-over study, employing deltoid cerebellar-only (C-tDCS) and cerebello-spinal (CS-tDCS) cathodal montage. Clinical evaluation was performed at baseline (T0), after 15 sessions of tDCS (T1) and after 1 month of follow-up (T2). Modified International Cooperative Ataxia Rating Scale (MICARS) and the Robertson dysarthria profile were used to rate ataxic and dysarthric symptoms, respectively. Alertness and split attention tests from Zimmermann test battery for attentional performance were employed to rate attentive functions. Moreover, 3D computerized gait analysis was employed to obtain a quantitative measure of efficacy of tDCS on motor symptoms. While clinical data showed that both CS and C-tDCS improved motor, dysarthric, and cognitive scores, the quantitative analysis of gait revealed significant improvement in spatio-temporal parameters only for C-tDCS treatment. Present findings, yet preliminary and limited by the small size of the tested sample, confirm the therapeutic potential of cerebellar tDCS in improving motor and cognitive symptoms in spinocerebellar ataxias and underline the need to obtain quantitative and objective measures to monitor the efficacy of a therapeutic treatment and to design tailored rehabilitative interventions. ClinicalTrials.gov identifier: NCT05951010., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Published: 2024
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49. From guardian to shepherd: The novel role of p53 in collective cell migration and epithelial repair.

Author: Pilia G and Piddini E
Subjects: Cell Movement, Epithelial Cells, Tumor Suppressor Protein p53 genetics
Published: 2022
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50. p53 directs leader cell behavior, migration, and clearance during epithelial repair.

Author: Kozyrska K, Pilia G, Vishwakarma M, Wagstaff L, Goschorska M, Cirillo S, Mohamad S, Gallacher K, Carazo Salas RE, and Piddini E
Subjects: Animals, Cell Shape, Cyclin-Dependent Kinase Inhibitor p21 genetics, Cyclin-Dependent Kinase Inhibitor p21 metabolism, Cyclin-Dependent Kinases antagonists & inhibitors, Cyclin-Dependent Kinases metabolism, Dogs, Epithelial Cells cytology, Integrin beta1 metabolism, Madin Darby Canine Kidney Cells, Phosphatidylinositol 3-Kinases metabolism, rac1 GTP-Binding Protein metabolism, Cell Movement, Epithelial Cells physiology, Tumor Suppressor Protein p53 metabolism
Abstract: Epithelial cells migrate across wounds to repair injured tissue. Leader cells at the front of migrating sheets often drive this process. However, it is unclear how leaders emerge from an apparently homogeneous epithelial cell population. We characterized leaders emerging from epithelial monolayers in cell culture and found that they activated the stress sensor p53, which was sufficient to initiate leader cell behavior. p53 activated the cell cycle inhibitor p21 WAF1/CIP1 , which in turn induced leader behavior through inhibition of cyclin-dependent kinase activity. p53 also induced crowding hypersensitivity in leader cells such that, upon epithelial closure, they were eliminated by cell competition. Thus, mechanically induced p53 directs emergence of a transient population of leader cells that drive migration and ensures their clearance upon epithelial repair.
Published: 2022
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