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1. Italian guidelines for the management of adult individuals with overweight and obesity and metabolic comorbidities that are resistant to behavioral treatment

Author

Chianelli, M., Busetto, L., Vettor, R., Annibale, B., Paoletta, A., Papini, E., Albanese, A., Carabotti, M., Casarotto, D., De Pergola, G., Disoteo, O. E., Grandone, I., Medea, G., Nisoli, E., Raffaelli, M., Schiff, S., Vignati, F., Cinquini, M., Gonzalez-Lorenzo, M., Fittipaldo, V. A., Minozzi, S., Monteforte, M., Tralongo, A. C., Novizio, R., Persichetti, A., Samperi, I., Scoppola, A., Borretta, G., Carruba, M., Carbonelli, M. G., De Luca, M., Frontoni, S., Corradini, S. G., Muratori, F., and Attanasio, R.

Published
2024
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2. Disease control of acromegaly does not prevent excess mortality in the long term: results of a nationwide survey in Italy

Author

Arosio, M., Sciannameo, V., Contarino, A., Berchialla, P., Puglisi, S., Pesatori, A. C., Ferrante, E., Filopanti, M., Pivonello, R., Dassie, F., Rochira, V., Cannavò, S., De Menis, E., Pigliaru, F., Grottoli, S., Cambria, V., Faustini-Fustini, M., Montini, M., Peri, A., Ceccato, F., Puxeddu, E., Borretta, G., Bondanelli, M., Ferone, D., Colao, A., Terzolo, M., and Reimondo, G.

Published
2024
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6. The basal to total insulin ratio in outpatients with diabetes on basal-bolus regimen

Author

Castellano, Elena, Attanasio, R., Giagulli, V. A., Boriano, A., Terzolo, M., Papini, E., Guastamacchia, E., Monti, S., Aglialoro, A., Agrimi, D., Ansaldi, E., Babini, A. C., Blatto, A., Brancato, D., Casile, C., Cassibba, S., Crescenti, C., De Feo, M. L., Del Prete, A., Disoteo, O., Ermetici, F., Fiore, V., Fusco, A., Gioia, D., Grassi, A., Gullo, D., Lo Pomo, F., Miceli, A., Nizzoli, M., Pellegrino, M., Pirali, B., Santini, C., Settembrini, S., Tortato, E., Triggiani, V., Vacirca, A., Borretta, G., and all on behalf of Associazione Medici Endocrinologi (AME)

Published
2018
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7. Clinical presentation and management of patients with primary hyperparathyroidism in Italy

Author

Saponaro, F., Cetani, F., Repaci, A., Pagotto, U., Cipriani, C., Pepe, J., Minisola, S., Cipri, C., Vescini, F., Scillitani, A., Salcuni, A., Palmieri, S., Eller-Vainicher, C., Chiodini, I., Madeo, B., Kara, E., Castellano, E., Borretta, G., Gianotti, L., Romanelli, F., Camozzi, V., Faggiano, A., Corbetta, S., Cianferotti, L., Brandi, M. L., De Feo, M. L., Palermo, A., Vezzoli, G., Maino, F., Scalese, M., and Marcocci, C.

Published
2018
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8. Correction to: The basal to total insulin ratio in outpatients with diabetes on basal-bolus regimen

Author

Castellano, Elena, Attanasio, R., Giagulli, V. A., Boriano, A., Terzolo, M., Papini, E., Guastamacchia, E., Monti, S., Aglialoro, A., Agrimi, D., Ansaldi, E., Babini, A. C., Blatto, A., Brancato, D., Casile, C., Cassibba, S., Crescenti, C., De Feo, M. L., Del Prete, A., Disoteo, O., Ermetici, F., Fiore, V., Fusco, A., Gioia, D., Grassi, A., Gullo, D., Lo Pomo, F., Miceli, A., Nizzoli, M., Pellegrino, M., Pirali, B., Santini, C., Settembrini, S., Tortato, E., Triggiani, V., Vacirca, A., Borretta, G., and all on behalf of Associazione Medici Endocrinologi (AME)

Published
2018
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19. What factors have impact on glucocorticoid replacement in adrenal insufficiency: a real-life study

Author

Puglisi, S., primary, Rossini, A., additional, Tabaro, I., additional, Cannavò, S., additional, Ferrau’, F., additional, Ragonese, M., additional, Borretta, G., additional, Pellegrino, M., additional, Dughera, F., additional, Parisi, A., additional, Latina, A., additional, Pia, A., additional, Terzolo, M., additional, and Reimondo, G., additional

Published
2020
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28. The basal to total insulin ratio in outpatients with diabetes on basal-bolus regimen

Author

Castellano, E, Attanasio, R, Giagulli, Va, Boriano, A, Terzolo, M, Papini, E, Guastamacchia, E, Monti, S, Aglialoro, A, Agrimi, D, Ansaldi, E, Babini, Ac, Blatto, A, Brancato, D, Casile, C, Cassibba, S, Crescenti, C, De Feo ML, Del Prete, A, Disoteo, O, Ermetici, F, Fiore, V, Fusco, A, Gioia, D, Grassi, A, Gullo, D, Lo Pomo, F, Miceli, A, Nizzoli, M, Pellegrino, M, Pirali, B, Santini, C, Settembrini, S, Tortato, E, Triggiani, V, Vacirca, A, Borretta, G, and all on behalf of Associazione Medici Endocrinologi, (AME).

Subjects
musculoskeletal diseases, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, 030209 endocrinology & metabolism, Type 2 diabetes, Hypoglycemia, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Diabetes mellitus, Basal bolus, Internal Medicine, medicine, 030212 general & internal medicine, Type 1 diabetes, business.industry, Insulin, medicine.disease, Metformin, Regimen, Basal (medicine), Insulin therapy, business, medicine.drug, Research Article
Abstract

Objective To evaluate the basal/total ratio of daily insulin dose (b/T) in outpatients with diabetes type 1 (DM1) and type 2 (DM2) on basal-bolus regimen, by investigating whether there is a relationship with HbA1c and episodes of hypoglycemia. Methods Multicentric, observational, cross-sectional study in Italy. Adult DM1 (n = 476) and DM2 (n = 541) outpatients, with eGFR >30 mL/min/1.73 m2, on a basal-bolus regimen for at least six months, were recruited from 31 Italian Diabetes services between March and September 2016. Clinicaltrials.govID: NCT03489031. Results Total daily insulin dose was significantly higher in DM2 patients (52.3 ± 22.5 vs. 46 ± 20.9 U/day), but this difference disappeared when insulin doses were normalized for body weight. The b/T ratio was lower than 0.50 in both groups: 0.46 ± 0.14 in DM1 and 0.43 ± 0.15 in DM2 patients (p = 0.0011). The b/T was significantly higher in the patients taking metformin in both groups, and significantly different according to the type of basal insulin (Degludec, 0.48 in DM1 and 0.44 in DM2; Glargine, 0.44 in DM1 and 0.43 in DM2; Detemir, 0.45 in DM1 and 0.39 in DM2). The b/T ratio was not correlated in either group to HbA1c or incidence of hypoglycemia (

Published
2018

30. Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

Author

Bonomi, Marco, primary, Vezzoli, Valeria, additional, Krausz, Csilla, additional, Guizzardi, Fabiana, additional, Vezzani, Silvia, additional, Simoni, Manuela, additional, Bassi, Ivan, additional, Duminuco, Paolo, additional, Di Iorgi, Natascia, additional, Giavoli, Claudia, additional, Pizzocaro, Alessandro, additional, Russo, Gianni, additional, Moro, Mirella, additional, Fatti, Letizia, additional, Ferlin, Alberto, additional, Mazzanti, Laura, additional, Zatelli, Maria Chiara, additional, Cannavò, Salvo, additional, Isidori, Andrea M, additional, Pincelli, Angela Ida, additional, Prodam, Flavia, additional, Mancini, Antonio, additional, Limone, Paolo, additional, Tanda, Maria Laura, additional, Gaudino, Rossella, additional, Salerno, Mariacarolina, additional, Francesca, Pregnolato, additional, Maghnie, Mohamad, additional, Maggi, Mario, additional, Persani, Luca, additional, _, _, additional, Aimaretti, G, additional, Altobelli, M, additional, Ambrosio, M R, additional, Andrioli, M, additional, Angeletti, G, additional, Arecco, F, additional, Arnaldi, G, additional, Arosio, M, additional, Balsamo, A, additional, Baldassarri, M, additional, Bartalena, L, additional, Bazzoni, N, additional, Beccaria, L, additional, Beck-Peccoz, P, additional, Bellastella, G, additional, Bellizzi, M, additional, Benedicenti, F, additional, Bernasconi, S, additional, Bizzarri, C, additional, Bona, G, additional, Bonadonna, S, additional, Borretta, G, additional, Boschetti, M, additional, Brunani, A, additional, Brunelli, V, additional, Buzi, F, additional, Cacciatore, C, additional, Cangiano, B, additional, Cappa, M, additional, Casalone, R, additional, Cassio, A, additional, Cavarzere, P, additional, Cherubini, V, additional, Ciampani, T, additional, Cicognani, D, additional, Cignarelli, A, additional, Cisternino, M, additional, Colombo, P, additional, Corbetta, S, additional, Corciulo, N, additional, Corona, G, additional, Cozzi, R, additional, Crivellaro, C, additional, Dalle Mule, I, additional, Danesi, L, additional, D’Elia, A V, additional, degli Uberti, E, additional, De Leo, S, additional, Della Valle, E, additional, De Marchi, M, additional, Di Iorgi, N, additional, Di Mambro, A, additional, Fabbri, A, additional, Foresta, C, additional, Forti, G, additional, Franceschi, A R, additional, Garolla, A, additional, Ghezzi, M, additional, Giacomozzi, C, additional, Giusti, M, additional, Grosso, E, additional, Guabello, G, additional, Guarneri, M P, additional, Grugni, G, additional, Isidori, A M, additional, Lanfranco, F, additional, Lania, A, additional, Lanzi, R, additional, Larizza, L, additional, Lenzi, A, additional, Loche, S, additional, Loli, P, additional, Lombardi, V, additional, Maggio, M C, additional, Mandrile, G, additional, Manieri, C, additional, Mantovani, G, additional, Marelli, S, additional, Marzullo, M, additional, Mencarelli, M A, additional, Migone, N, additional, Motta, G, additional, Neri, G, additional, Padova, G, additional, Parenti, G, additional, Pasquino, B, additional, Pia, A, additional, Piantanida, E, additional, Pignatti, E, additional, Pilotta, A, additional, Pivetta, B, additional, Pollazzon, M, additional, Pontecorvi, A, additional, Porcelli, P, additional, Pozzan, G B, additional, Pozzobon, G, additional, Radetti, G, additional, Razzore, P, additional, Rocchetti, L, additional, Roncoroni, R, additional, Rossi, G, additional, Sala, E, additional, Salvatoni, A, additional, Salvini, F, additional, Secco, A, additional, Segni, M, additional, Selice, R, additional, Sgaramella, P, additional, Sileo, F, additional, Sinisi, A A, additional, Sirchia, F, additional, Spada, A, additional, Tresoldi, A, additional, Vigneri, R, additional, Weber, G, additional, and Zucchini, S, additional

Published
2018
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31. Predittori di morbilità e mortalità nell’acromegalia: studio italiano del Gruppo di Studio sull’Acromegalia

Author

Arosio, M., Reimondo, G., Malchiodi, E., Berchialla, P., Borraccino, A., De Marinis, L., Oivonello, R., Grotoli, S., Losa, M., Cannavò, S., Minuto, F., Montini, M., Bondanelli, M., De Menis, E., Martini, C., Angeletti, G., Velardo, A., Peri, A., Faustini-Fustini, M., Tita, P., Pigliaru, F., Borretta, G., Scaroni, C., Bazzoni, N., Bianchi, A., Appetecchia, M., Cavagnini, F., Lombardi, G., Ghigo, E., Peccoz, P. Peck, Colao, A., Terzolo, M., Arvat, Emanuela, and Gruppo di Studio Italiano sull’Acromegalia

Published
2012
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32. Screening della sindrome di Cushing in pazienti ambulatoriali con diabete mellito di tipo 2: risultati di uno studio prospettico multicentrico in Italia

Author

Terzolo, M., Reimondo, G., Chiodini, I., Castello, R., Giordano, R., Ciccarelli, E., Limone, P., Crivellaro, C., Martinelli, I., Montini, M., Disoteo, O., Ambrosi, B., Lanzi, R., Arosio, M., Senni, S., Balestrieri, A., Solaroli, E., Madeo, B., De Giovanni, R., Strollo, F., Battista, R., Scorsone, A., Giagulli, V. A., Collura, D., Scillitani, A., Cozzi, R., Faustini-Fustini, M., Pia, A., Rinaldi, R., Allasino, B., Peraga, G., Tassone, F., Garofalo, P., Papini, E., Borretta, G., and Lanfranco, Fabio

Published
2012
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34. Cinacalcet in the management of prmary hyperparathyroidism:post marketing experience of an Italian multicentre group

Author

Saponaro F, Grimaldi F, Borretta G, Brandi ML, Minisola F, Frasoldati A, Papini E, Scillitani A, Banti C, Del prete M, Vescini F, Giannotti L, Romagnoli E, Colao A, Cetani F, Marcocci C., FAGGIANO, ANTONGIULIO, Saponaro, F, Faggiano, Antongiulio, Grimaldi, F, Borretta, G, Brandi, Ml, Minisola, F, Frasoldati, A, Papini, E, Scillitani, A, Banti, C, Del prete, M, Vescini, F, Giannotti, L, Romagnoli, E, Colao, A, Cetani, F, and Marcocci, C.

Abstract

Objective To report the Italian experience on cinacalcet use following its approval by the European Medical Agency (EMA) to control hypercalcaemia in patients with primary hyperparathyroidism (PHPT). Design Retrospective data collection from 100 patients with sporadic (sPHPT) and 35 with familial PHPT (fPHPT) followed in eight Italian centres between October 2008 and March 2011. Measurements Albumin-adjusted serum calcium, PTH, 25OHD, daily cinacalcet dose and adverse events were recorded during the follow-up (1-46 months). Results Baseline serum calcium was 2·90 ± 0·27 nmol/l in sPHPT and 2·75 ± 0·17 nmol/l in fPHPT patients (P = 0·007). The cinacalcet EMA labelling was met in 53% sPHPT and 26% fPHPT patients. High surgical risk (34%), negative preoperative imaging (19%), control of hypercalcaemia before parathyroidectomy (PTx) (24%), and refusal of PTx (19%) accounted for cinacalcet prescription in 96% of sPHPT patients. Conversely, initial treatment (34%), persistent/relapsing PHPT after surgery (31%), and refusal of PTx (14%) were the indications in 79% fPHPT patients. Cinacalcet was started at 30 mg/daily in 64% of sPHPT and 91% of fPHPT and increased until normocalcaemia was reached or side effects occurred. The final daily dose ranged between 15 and 120 mg. The majority of patients (65% of sPHPT and 80% of fPHPT) become normocalcaemic. Treatment was withdrawn in six patients because of side effects. Conclusions There is a wide heterogeneity in the prescription of cinacalcet in PHPT patients in Italy and the EMA labelling is not always followed, particularly in fPHPT patients. Cinacalcet effectively reduces serum calcium in patients with either sPHPT or fPHPT

Published
2013

35. 41 Circadian and Circaseptan Rhythmicities in Corticosteroid-binding Globulin (CBG) Binding Activity of Human Milk

Author

A Angeli, R Frairia, Agrimonti F, D Fornaro, G Trapani, E Bertino, Borretta G, and M Torta

Subjects
medicine.medical_specialty, Evening, Globulin, biology, Chemistry, food and beverages, Radioimmunoassay, fluids and secretions, Endocrinology, medicine.anatomical_structure, Transcortin, Internal medicine, Lactation, Cortisol binding, medicine, biology.protein, Circadian rhythm, Circaseptan
Abstract

It has been demonstrated that human milk contains a corticosteroid-binding globulin (CBG, transcortin) which is very similar to that isolated from plasma. It is agreed, moreover, that the cortisol environment of the breast is important for the synthesis of major milk proteins. It was of interest, therefore, to investigate whether milk transcortin exhibits circadian variations in the binding activity as does the plasma counterpart. Twelve lactating women, aged 23-35 years, collected specimens of milk just before feeding at different times of the 24-h cycle for 3 consecutive days in the first week of lactation. Six women extended milk collection for at least a 28-days span in the first 2 months of lactation. To obtain whey, milk was centrifuged in cellulose nitrate tubes at 105,000 g for 30 min at 4 degrees C. Specific cortisol binding activity of CBG was measured by an adsorption technique and data were expressed as a function of protein content. Cortisol levels in milk were measured by radioimmunoassay. Rhythmometric analyses (single- and mean-cosinor procedures) yielded detection of a significant circadian rhythm in 'apparent specific binding activity' for cortisol (ASBA-F) whereas no significant oscillation was found as far as milk cortisol concentrations were concerned. Mean acrophase of the CBG-binding activity in milk was located in the evening, lagging behind the corresponding activity in serum by approximately 8 h. A circaseptan rhythmicity in milk binding activity was also present in our longitudinal series at a high level of significance. These results provide evidence that CBG binding activity in human milk has a clear circadian rhythm in the face of ecchronic milk cortisol concentrations. Phase-shift with regard to the rhythm of the plasma counterpart may be accounted for by processes of milk accumulation before nursing The significance of circadian and circaseptan variations in specific cortisol (and other steroids) binding in milk awaits further investigation.

Published
2015

37. Assessment of the awareness and management of sleep apnea syndrome in acromegaly. The COM.E.TA (Comorbidities Evaluation and Treatment in Acromegaly) Italian Study Group

Author

Menis, E., Giustina, A., Colao, A., Degli Uberti, E., Ghigo, E., Minuto, F., Bogazzi, F., Drigo, R., Cattaneo, A., Aimaretti, G., Ambrosio, M. R., Andreani, M., Angeletti, G., Celleno, R., Appetecchia, M. L., Baldelli, R., Armigliato, M., Arosio, M., Babini, A., Baldi, F., Balza, G., Bartalena, L., Tanda, M. L., Battista, C., Beck-Peccoz, P., Boffano, G. M., Martino, E., Borboni, P., Borretta, G., Baffoni, C., Boscaro, M., Arnaldi, G., Buschini, M., Salvatore Cannavo, Caramellino, A., Carani, C., Castelli, A., Pancotti, M., Cavagnini, F., Chiodera, P., Cataldo, S., Chiovato, L., Colombo, M., Crivellaro, C., D Ulizia, M., Mattè, S., Del Monte, P., Delitala, G., Masala, A., Fabbri, A., Piantoni, L., Faustini Fustini, M., Favro, S., Ferone, D., Fidotti, E., Valentini, F., Formoso, G., Frigato, F., Furlani, L., Gargiulo, P., Gasparoni, P., Gazzaruso, C., Giordano, C., Giorgino, F., Grandi, M., Pedersoli, S., Grimaldi, F., Grottoli, S., La Grotta, A., Lanzi, R., Limone, P., Razzore, P., Lio, S., Lo Cascio, V., Francia, G., Davì, M. V., Lo Coco, R., Macinini, E., Mantero, F., Scaroni, C., Marchetti, M., Mariotti, S., Pigliaru, F., Marzullo, P., Monachesi, M., Montini, M., Pagani, G., Muggeo, M., Castello, R., Mulas, G., Nassi, R., Vezzosi, C., Nizzoli, M., Orlandi, F., Pacini, F., Di Cairano, G., Palermo, M., Paoletta, A., Papini, E., Parillo, M., Parisi, G., Pasquali, R., Pagotto, U., Pavoncello, S., Perego, M. R., Peri, A., Piscopello, L., Pivonello, R., Raffa, M., Raggiunti, B., Roiter, I., Tamburrano, G., Terzolo, M., Testa, I., Testori, G., Cerruti, N., Toscano, V., Tota, N., Vailati, A., Lovati, E., Valcavi, R., Vincenzi, V., De Menis, E, Giustina, A, Colao, A, Degli Uberti, E, Ghigo, E, Minuto, F, Bogazzi, F, Drigo, R, Cattaneo, A, Aimaretti, G, Giordano, C, Giustina, Andrea, Italian Study Group, C. O. M. E. T. A., De Menis, E., Giustina, A., Colao, A., Degli Uberti, E., Ghigo, E., Minuto, F., Bogazzi, F., Drigo, R., Cattaneo, A., Aimaretti, G., Ambrosio, M.R., Andreani, M., Angeletti, G., Celleno, R., Appetecchia, M.L., Baldelli, R., Armigliato, M., Arosio, M., Babini, A., Baldi, F., Balza, G., Bartalena, L., Tanda, M.L., Battista, C., Beck-Peccoz, P., Boffano, G.M., Martino, E., Borboni, P., Borretta, G., Baffoni, C., Boscaro, M., Arnaldi, G., Buschini, M., Cannavò, S., Caramellino, A., Carani, C., Castelli, A., Pancotti, M., Cavagnini, F., Chiodera, P., Cataldo, S., Chiovato, L., Colombo, M., Crivellaro, C., D'Ulizia, M., De Mattè, S., Del Monte, P., Delitala, G., Masala, A., Fabbri, A., Piantoni, L., Faustini Fustini, M., Favro, S., Ferone, D., Fidotti, E., Valentini, F., Formoso, G., Frigato, F., Furlani, L., Gargiulo, P., Gasparoni, P., Gazzaruso, C., Giordano, C., Giorgino, F., Grandi, M., Pedersoli, S., Grimaldi, F., Grottoli, S., La Grotta, A., Lanzi, R., Limone, P., Razzore, P., Lio, S., Lo Cascio, V., Francia, G., Davì, M.V., Lo Coco, R., Macinini, E., Mantero, F., Scaroni, C., Marchetti, M., Mariotti, S., Pigliaru, F., Marzullo, P., Monachesi, M., Montini, M., Pagani, G., Muggeo, M., Castello, R., Mulas, G., Nassi, R., Vezzosi, C., Nizzoli, M., Orlandi, F., Pacini, F., Di Cairano, G., Palermo, M., Paoletta, A., Papini, E., Parillo, M., Parisi, G., Pasquali, R., Pagotto, U., Pavoncello, S., Perego, M.R., Peri, A., Piscopello, L., Pivonello, R., Raffa, M., Raggiunti, B., Roiter, I., Tamburrano, G., Terzolo, M., Testa, I., Testori, G., Cerruti, N., Toscano, V., Tota, N., Vailati, A., Lovati, E., Valcavi, R., Vincenzi, V., Colao, Annamaria, and C. O. M. E. T. A. Italian Study G. r. o. u., P.

Subjects
Male, Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Endocrinology, Diabetes and Metabolism, Polysomnography, Comorbidity, somatostatin analogs, acromegaly, sleep apnea syndrome, Settore MED/13 - Endocrinologia, Somatostatin analog, Endocrinology, Sleep Apnea Syndromes, Quality of life, Acromegaly, Sleep apnea syndrome, Somatostatin analogs, Physicians, Surveys and Questionnaires, medicine, Prevalence, Humans, Continuous positive airway pressure, medicine.diagnostic_test, business.industry, Sleep apnea, Awareness, Focus Groups, sleep apnea, medicine.disease, Sleep Apnea, Italy, Physical therapy, COM.E.TA, Female, Clinical Competence, business
Abstract

In 2007 the Italian COM.E.T.A. (COMorbidities Evaluation and Treatment in Acromegaly) study group started to assess the application in a clinical setting of the Versailles criteria for management of acromegaly complications by a first questionnaire focusing on cardiovascular co-morbidities. A further questionnaire on sleep apnea syndrome (SAS) was delivered by the COM.E.T.A. study group to 107 endocrine centers in Italy. The results of our survey suggest that SAS is a well-known comorbidity even if its estimated prevalence is lower than in the literature. Polysomnography is the preferred tool for diagnosis. Control of SAS is considered relevant both for quality of life and co-morbidities. Continuous positive airway pressure is the cornerstone of therapy, but patients' acceptance may be critical. Control of GH/IGF-I secretion is important to improve SAS. Management of SAS requires cooperation between specialists. ©2011, Editrice Kurtis.

Published
2011

39. GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS

Author

Domenico Vladimiro Libri, Gunnar, Kleinau, Valeria, Vezzoli, Marta, Busnelli, Fabiana, Guizzardi, Antonio Agostino Sinisi, Angela Ida Pincelli, Antonio, Mancini, Gianni, Russo, Paolo Beck Peccoz, Sandro, Loche, Claudio, Crivellaro, Maghnie, Mohamad, Csilla, Krausz, Luca, Persani, Marco, Bonomi, Aimaretti, G., Altobelli, M., Arnaldi, G., Baldi, M., Bartalena, L., Beccaria, L., Bellastella, G., Bellizzi, M., Bona, G., Borretta, G., Buzi, F., Cannavo, S., Cappa, M., Cariboni, A., Ciampani, T., Cicognani, A., Cisternino, M., Corbetta, S., Corciulo, N., Corona, G., Cozzi, R., D'Elia, A. V., Degli Uberti, E., De Marchi, M., Forti, G., Di Iorgi, N., Isidori, Andrea, Fabbri, A., Ferlin, A., Foresta, C., Franceschi, R., Garolla, A., Gaudino, R., Giagulli, V., Grosso, E., Jannini, E., Lanfranco, F., Larizza, L., Lenzi, A., Lombardo, Francesco, Limone, P., Maggi, M., Maggi, R., Maggio, M. C., Mandrile, G., Marino, M., Mencarelli, M. A., Migone, N., Neri, G., Perroni, L., Pignatti, E., Pilotta, A., Pizzocaro, A., Pontecorvi, A., Pozzobon, G., Prodam, F., Radetti, G., Razzore, P., Salerno, M. C., Salvatoni, A., Salvini, F., Secco, A., Segni, Maria, Simoni, M., Vigneri, R., Weber, G., Libri, Dv, Kleinau, G, Vezzoli, V, Busnelli, M, Guizzardi, F, Sinisi, Antonio Agostino, Pincelli, Ai, Mancini, A, Russo, G, Beck Peccoz, P, Loche, S, Crivellaro, C, Maghnie, M, Krausz, C, Persani, L, Bonomi, M., Libri DV, Kleinau G, Vezzoli V, Busnelli M, Guizzardi F, Sinisi AA, Pincelli AI, Mancini A, Russo G, Beck-Peccoz P, Loche S, Crivellaro C, Maghnie M, Krausz C, Persani L, Bonomi M, Maggio MC, et al, Libri, Domenico Vladimiro, Kleinau, Gunnar, Vezzoli, Valeria, Busnelli, Marta, Guizzardi, Fabiana, Pincelli, Angela Ida, Mancini, Antonio, Russo, Gianni, Beck Peccoz, Paolo, Loche, Sandro, Crivellaro, Claudio, Maghnie, Mohamad, Krausz, Csilla, Persani, Luca, Bonomi, Marco, and Salerno, Mariacarolina

Subjects
Male, Kallmann syndrome, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Inositol Phosphate, medicine.disease_cause, Biochemistry, Hypogonadotropic hypogonadism, Germline, Receptors, G-Protein-Coupled, Cohort Studies, Endocrinology, Settore MED/38 - Pediatria Generale E Specialistica, Adolescent, Adult, Child, Cyclic AMP, Female, Genetic Association Studies, Humans, Hypogonadism, Inositol Phosphates, Middle Aged, Mutation, Missense, Receptors, Peptide, Signal Transduction, Young Adult, Germ-Line Mutation, Receptors, mutations, septo-optic dysplasia, Missense mutation, Receptor, Mutation, Prokineticin, Peptide, Human, medicine.medical_specialty, Adolescent, Adult, Child, Cohort Studies, Cyclic AMP, metabolism, Female, Genetic Association Studies, Germ-Line Mutation, Humans, Hypogonadism, epidemiology/genetics, Inositol Phosphates, metabolism, Male, Middle Aged, Missense, Receptors, G-Protein-Coupled, genetics, Receptors, genetics, Signal Transduction, genetics, Young Adult, Genetic Association Studie, Biology, Germline mutation, Internal medicine, medicine, Biochemistry (medical), Prokineticin receptor 2, medicine.disease, PROKR2, hypogonadism, prokineticin, Missense, Cohort Studie
Abstract

INTRODUCTION: Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incompletely characterized. MATERIAL AND METHODS: In a series of 246 idiopathic central hypogonadism patients, we found three novel (p.V158I, p.V334M, and p.N15TfsX30) and six already known (p.L173R, p.T260M, p.R268C, p.V274D, p.V331M, and p.H20MfsX23) germline variants in the PROKR2 gene. We evaluated the effects of seven missense alterations on two different prokineticin receptor 2 (PROKR2)-dependent pathways: inositol phosphate-Ca(2+) (Gq coupling) and cAMP (Gs coupling). RESULTS: PROKR2 variants were found in 16 patients (6.5%). Expression levels of variants p.V158I and p.V331M were moderately reduced, whereas they were markedly impaired in the remaining cases, except p.V334M, which was significantly overexpressed. The variants p.T260M, p.R268C, and p.V331M showed no remarkable changes in cAMP response (EC50) whereas the IP signaling appeared more profoundly affected. In contrast, cAMP accumulation cannot be stimulated through the p.L173R and p.V274D, but IP EC50 was similar to wt inp.L173R and increased by 10-fold in p.V274D. The variant p.V334M led to a 3-fold increase of EC50 for both cAMP and IP. CONCLUSION: Our study shows that single PROKR2 missense allelic variants can either affect both signaling pathways differently or selectively. Thus, the integrity of both PROKR2-dependent cAMP and IP signals should be evaluated for a complete functional testing of novel identified allelic variants.

Published
2014

40. Italian Study Group on Idiopathic Central Hypogonadism (ICH). Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways

Author

Libri, D. V., Kleinau, G., Vezzoli, V., Busnelli, M., Guizzardi, F., Sinisi, A. A., Pincelli, A. I., Mancini, A., Russo, G., Eccoz, P. Beck P., Loche, S., Crivellaro, C., Maghnie, M., Krausz, C., Persani, L., Bonomi, M., Aimaretti, G., Altobelli, M., Arnaldi, G., Baldi, M., Bartalena, Luigi, Beccaria, L., Bellastella, G., Bellizzi, M., Bona, G., Borretta, G., Buzi, F., Cannavò, S., Cappa, M., Cariboni, A., Ciampani, T., Cicognani, A., Cisternino, M., Corbetta, S., Corciulo, N., Corona, G., Cozzi, R., D’Elia, A. V., Degli Uberti, E., De Marchi, M., Forti, G., di Iorgi, N., Isidori, A., Fabbri, A., Ferlin, A., Foresta, C., Franceschi, R., Garolla, A., Gaudino, R., Giagulli, V., Grosso, E., Jannini, E., Lanfranco, F., Larizza, L., Lenzi, A., Lombardo, F., Limone, P., Maggi, M., Maggi, R., Maggio, M. C., Mandrile, G., Marino, M., Mencarelli, M. A., Migone, N., Neri, G., Perroni, L., Pignatti, E., Pilotta, A., Pizzocaro, A., Pontecorvi, A., Pozzobon, G., Prodam, F., Radetti, G., Razzore, P., Salerno, M. C., Salvatoni, Alessandro, Salvini, F., Secco, A., Segni, M., Simoni, M., Vigneri, R., and Weber, G.

Published
2014

41. Assessment of the awareness and management of cardiovascular complications of acromegaly in Italy. The COM.E.T.A. (COMorbidities Evaluation and Treatment in Acromegaly) Study

Author

Giustina, A., Mancini, T., Boscani, P. F., De Menis, E., Degli Uberti, E., Ghigo, E., Martino, E., Minuto, F., Colao, A., Comorbidities Evaluation, Com E. T. A., Treatment Inacromegaly Italian Study Group, Aimaretti, G., Ambrosio, M. R., Andreani, M., Angeletti, G., Appetecchia, M. L., Armigliato, M., Arnaldi, G., Arosio, M., Babini, A., Baldi, F., Balza, G., Barbaro, D., Bartalena, L., Battista, C., Bechi, R., Beck Peccoz, P., Bellastella, A., Bevilacqua, M., Boccuzzi, G., Boffano, G. M., Bondanelli, M., Borretta, G., Boscaro, M., Buschini, M., Campanini, M., Cannavo, S., Carani, C., Carpenito, F., Carzaniga, C., Castelli, A., Cavagnini, F., Chiarini, V., Chiodera, P., Colombo, M., Colombo, P., Coppola, A., Cozzi, R., Crivellaro, C., D'Antonio, R., Davi, M., De Marinis, L., De Matte, S., De Remigis, P., Del Monte, P., Delitala, G., Doveri, G., D'Ulizia, M., Favro, S., Ferone, D., Fidotti, E., Formoso, G., Francia, G., Frigato, F., Furlani, L., Galuzzo, A., Gargiulo, P., Gasperoni, P., Gazzaruso, C., Giorgino, F., Grandi, M., Grimaldi, F., Indovina, S., Lanzi, R., Legovini, P., Limone, P., Liuzzi, A., Lo Cascio, V., Lo Coco, R., Loli, P., Mantero, F., Marchetti, M., Mariotti, S., Masala, A., Meringolo, D., Monachesi, M., Montini, M., Moretti, C., Muggeo, M., Mulas, G., Nizzolo, M., Oleandri, S., Orio, F., Orlandi, F., Pacini, F., Palermo, M., Pancotti, D., Paoletta, A., Papini, E., Parillo, M., Parisi, G., Pasquali, R., Pavoncello, S., Perego, M. R., Peri, A., Peri, D., Piantoni, L., Raffa, M., Raggiunti, B., Resmini, E., Rizzi, G., Rosatello, A., Rosato, F., Savino, L., Scaroni, C., Sinisi, A., Stefani, I., Tamburrano, G., Tanda, M., Terzolo, M., Testa, I., Testa, R., Testori, G., Toscano, Vincenzo, Tota, N., Travaglini, P., Vailati, A., Valcavi, R., Ventre, I., Vincenzi, W., Vitale, G., A., Giustina, T., Mancini, P. F., Boscani, E., de Meni, E., degli Uberti, E., Ghigo, E., Martino, F., Minuto, Colao, Annamaria, Giustina A, Mancini T, Boscani PF, de Menis E, degli Uberti E, Ghigo E, Martino E, Minuto F, Colao A, Aimaretti G, Ambrosio MR, Andreani M, Angeletti G, Appetecchia ML, Armigliato M, Arnaldi G, Arosio M, Babini A, Baldi F, Balza G, Barbaro D, Bartalena L, Battista C, Bechi R, Beck-Peccoz P, Bellastella A, Bevilacqua M, Boccuzzi G, Boffano GM, Bondanelli M, Borretta G, Boscaro M, Buschini M, Campanini M, Cannavò S, Carani C, Carpenito F, Carzaniga C, Castelli A, Cavagnini F, Chiarini V, Chiodera P, Colombo M, Colombo P, Coppola A, Cozzi R, Crivellaro C, D'Antonio R, Davì M, De Marinis L, De Mattè S, De Remigis P, Del Monte P, Delitala G, Doveri G, D'Ulizia M, Favro S, Ferone D, Fidotti E, Formoso G, Francia G, Frigato F, Furlani L, Galuzzo A, Gargiulo P, Gasperoni P, Gazzaruso C, Giorgino F, Grandi M, Grimaldi F, Indovina S, Lanzi R, Legovini P, Limone P, Liuzzi A, Lo Cascio V, Lo Coco R, Loli P, Mantero F, Marchetti M, Mariotti S, Masala A, Meringolo D, Monachesi M, Montini M, Moretti C, Muggeo M, Mulas G, Nizzolo M, Oleandri S, Orio F, Orlandi F, Pacini F, Palermo M, Pancotti D, Paoletta A, Papini E, Parillo M, Parisi G, Pasquali R, Pavoncello S, Perego MR, Peri A, Peri D, Piantoni L, Raffa M, Raggiunti B, Resmini E, Rizzi G, Rosatello A, Rosato F, Savino L, Scaroni C, Sinisi A, Stefani I, Tamburrano G, Tanda M, Terzolo M, Testa I, Testa R, Testori G, Toscano V, Tota N, Travaglini P, Vailati A, Valcavi R, Ventre I, Vincenzi W, Vitale G., Giustina, Andrea, Mancini, T, Boscani, Pf, DE MENIS, E, DEGLI UBERTI, E, Ghigo, E, Martino, E, Minuto, F, Colao, A, and Italian Study Group, C. O. M. E. T. A.

Subjects
Questionnaires, cardiovascular risk, medicine.medical_specialty, Pathology, Ambulatory blood pressure, Cardiomyopathy, Endocrinology, Diabetes and Metabolism, MEDLINE, Disease, heart, Comorbidity, Left ventricular hypertrophy, NO, Endocrinology, Patient Education as Topic, Surveys and Questionnaires, Acromegaly, medicine, Humans, Intensive care medicine, Awareness, Echocardiography, Hypertension, Questionnaire, business.industry, Cardiovascular Diseases, Epidemiologic Studies, Follow-Up Studies, medicine.disease, Blood pressure, Heart failure, business
Abstract

Background: During the course of acromegaly, cardiovascular, respiratory, and metabolic co-morbidities contribute to enhanced mortality. In 2002, the Pituitary Society and the European Neuroendocrine Association sponsored a Consensus Workshop in Versailles during which guidelines for diagnosis and treatment of co-morbidities in acromegaly were defined. However, as for other guidelines previously issued in the field, no data are available on their clinical application. Aim: The aim of this work coordinated by the Italian Study group on co-morbidities evaluation and treatment in acromegaly (COM.E.T.A.) was to assess, on a national basis, the application in the clinical practice of the Versailles criteria for diagnosis and treatment of cardiovascular comorbities in acromegaly. Materials and methods: In January 2007 an ad hoc designed questionnaire was sent by mail to 130 endocrine Centers in Italy. Results: The guidelines have been generally well perceived and translated in clinical practice. Specifically: 1) echocardiography is considered the mainstay for the diagnosis and follow-up; 2) ambulatory blood pressure monitoring and blood lipid assessment are performed in most hypertensive patients; 3) most endocrinologists directly manage hypertension and are aware of the uncertainty of the effect of the control of the disease on blood pressure levels; 4) ACE inhibitors and angiotensin receptors blockers are first-choice anti-hypertensive treatment; 5) approximately half of the centers consider somatostatin analogues of paramount relevance for biochemical control of disease; 6) awareness that left ventricular hypertrophy and heart failure are the most relevant cardiovascular complications is high although the impact of ischemic, arrhythmic, and valvular complications on prognosis is less well perceived. Conclusion: The results of the present survey suggest that previuosly issued guidelines are generally carefully followed in the clinical practice. On the other side, a certain lack of awareness of emerging aspects of the cardiovascular comorbities of acromegaly confirms the necessity of periodically updating the guidelines based on the availability of new clinical information.

Published
2008

42. First-line therapy of acromegaly: A statement of the A.L.I.C.E. (Acromegaly primary medical treatment Learning and Improvement with Continuous Medical Education) Study Group

Author

Colao, A., Martino, E., Cappabianca, P., Cozzi, R., Scanarini, M., Ghigo, E., Angeletti, G., Anile, C., Arnaldi, G., Arosio, M., Attanasio, R., Auriemma, R., Baldelli, R., Billeci, D., Borretta, G., Boscaro, M., Salvatore Cannavo, Cavagnini, F., Cirillo, S., D Arrigo, C., D Azzò, G., Marinis, L., Menis, E., Degli Uberti, E., Esposito, F., Ferone, D., Formoso, G., Gasco, V., Gasperi, M., Giordano, E., Giustina, A., Grottoli, S., La Notte, M., Lasio, G., Lombardi, G., Losa, M., Mantero, F., Mariotti, S., Marzullo, P., Mazzatenta, D., Minuto, F., Montini, M., Pacini, F., Pezzino, V., Pivonello, R., Ronchi, C., Sicolo, N., Sinisi, A., Spada, A., Tamburrano, G., Terzolo, M., Tita, P. M. B., Vigo, M. T., Colao, A., Martino, E., Cappabianca, P., Cozzi, R., Scanarini, M., Ghigo, E., Angeletti, G., Anile, C., Arnaldi, G., Arosio, M., Attanasio, R., Auriemma, R., Baldelli, R., Billeci, D., Borretta, G., Boscaro, M., Cannavò, S., Cavagnini, F., Cirillo, S., D'Arrigo, C., D'Azzò, G., De Marinis, L., De Menis, E., degli Uberti, E., Esposito, F., Ferone, D., Formoso, G., Gasco, V., Gasperi, M., Giordano, E., Giustina, A., Grottoli, S., La Notte, M., Lasio, G., Lombardi, G., Losa, M., Mantero, F., Mariotti, S., Marzullo, P., Mazzatenta, D., Minuto, F., Montini, M., Pacini, F., Pezzino, V., Pivonello, R., Ronchi, C., Sicolo, N., Sinisi, A., Spada, A., Tamburrano, G., Terzolo, M., Tita, P. M. B., and Vigo, M. T.

Subjects
Adenoma, medicine.medical_specialty, Pediatrics, Cabergoline, Medical treatment, business.industry, Statement (logic), Endocrinology, Diabetes and Metabolism, Guidelines, Guideline, medicine.disease, Acromegaly, Treatment, First line therapy, Endocrinology, Dopamine Agonists, Physical therapy, medicine, Ergolines, Humans, Somatostatin, business
Published
2006

43. First-line therapy of acromegaly: a statement of the A.L.I.C.E. (Acromegaly primary medical treatment Learning and Improvement with Continuous Medical Educcation) Studi Group

Author

COLAO A, MARTINO E, CAPPABIANCA P, COZZI R, SCANARINI M, GHIGO E, ANGELETTI G, ANILE C, ARNALDI G, AROSIO M, ATTANASIO R, AURIEMMA R, BALDELLI R, BILLECI D, BORRETTA G, BOSCARO M, CANNAV0' S, CAVAGNINI F, D'ARRIGO C, D'AZZO G, DE MARINIS L, DE MENIS E, DEGLI UBERTI E, ESPOSITO F, FERONE D, FORMOSO G, GASCO V, GASPERI M, GIORDANO E, GIUSTINA A, GROTTOLI S, LA NOTTE M, LASIO G, LOMBARDI G, LOSA M, MANTERO F, MARIOTTI S, MARZULLO P, MAZZATENTA D, MINUTO F, MONTINI M, PACINI F, PEZZINO V, PIVONELLO R, RONCHI C, SICOLO N, SINISI A, SPADA A, TAMBURRANO G, TERZOLO M, TITA PMB, VIGO MT, CIRILLO, Sossio, Colao, A, Martino, E, Cappabianca, P, Cozzi, R, Scanarini, M, Ghigo, E, Angeletti, G, Anile, C, Arnaldi, G, Arosio, M, Attanasio, R, Auriemma, R, Baldelli, R, Billeci, D, Borretta, G, Boscaro, M, Cannav0', S, Cavagnini, F, Cirillo, Sossio, D'Arrigo, C, D'Azzo, G, DE MARINIS, L, DE MENIS, E, DEGLI UBERTI, E, Esposito, F, Ferone, D, Formoso, G, Gasco, V, Gasperi, M, Giordano, E, Giustina, A, Grottoli, S, LA NOTTE, M, Lasio, G, Lombardi, G, Losa, M, Mantero, F, Mariotti, S, Marzullo, P, Mazzatenta, D, Minuto, F, Montini, M, Pacini, F, Pezzino, V, Pivonello, R, Ronchi, C, Sicolo, N, Sinisi, A, Spada, A, Tamburrano, G, Terzolo, M, Tita, Pmb, and Vigo, Mt

Published
2006

46. New understandings of the genetic basis of isolated idiopathic central hypogonadism

Author

Bonomi, M, Libri, Dv, Guizzardi, F, Guarducci, E, Maiolo, E, Pignatti, E, Asci, R, Persani, L, Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology, Pediatric, Endocrinology, Diabetes Aimaretti, G, Altobelli, M, Arnaldi, G, Baldi, M, Bartalena, L, Beccaria, L, Beck Peccoz, P, Bellastella, G, Borretta, G, Buzi, F, Cannavo', Salvatore, Cappa, M, Cariboni, A, Ciampani, T, Cicognani, A, Cisternino, M, Corbetta, S, Corciulo, N, Cozzi, R, D'Elia, Av, Uberti, Ed, De Marchi, M, Forti, G, di Iorgi, N, Fabbri, A, Ferlin, A, Gaudino, R, Grosso, E, Krausz, C, Lanfranco, F, Larizza, D, Limone, P, Maggi, M, Maggi, R, Maghnie, M, Mancini, A, Mandrile, G, Marino, M, Mencarelli, Ma, Migone, N, Neri, G, Perroni, L, Pilotta, A, Pincelli, Ai, Pizzocaro, A, Pontecorvi, A, Radetti, G, Razzore, P, Russo, G, Salvini, F, Secco, A, Segni, M, Simoni, M, Sinisi, A, Vigneri, R, and Weber, G.

Subjects
Male, Infertility, central hypogonadism, congenital hypogonadism, GnRH, hypogonadotropic hypogonadism, hypothalamus–pituitary–gonadal axis, Kallmann syndrome, male infertility, Hypothalamo-Hypophyseal System, medicine.medical_specialty, Urology, Context (language use), Review, Disease, Bioinformatics, Male infertility, Mice, Hypogonadotropic hypogonadism, Internal medicine, medicine, Animals, Humans, Animals, Humans, Hypogonadism, complications/genetics/physiopathology, Hypothalamo-Hypophyseal System, physiopathology, Infertility, genetics, Italy, Kallmann Syndrome, complications/genetics, Male, Mice, Mice, Knockout, Models, Animal, cardiovascular diseases, Infertility, Male, Mice, Knockout, business.industry, Hypogonadism, General Medicine, medicine.disease, Penetrance, nervous system diseases, Endocrinology, Italy, Models, Animal, central hypogonadism, congenital hypogonadism, GnRH, hypogonadotropic hypogonadism, hypothalamus–pituitary–gonadal axis, Kallmann syndrome, male infertility, business, gnrh, hypothalamus-pituitary-gonadal axis, kallmann syndrome, Rare disease
Abstract

Idiopathic hypogonadotropic hypogonadism is a rare disease that is characterized by delayed/absent puberty and/or infertility due to an insufficient stimulation of an otherwise normal pituitary–gonadal axis by gonadotrophin-releasing hormone (GnRH) action. Because reduced or normal luteinizing hormone (LH)/follicle-stimulating hormone (FSH) levels may be observed in the affected patients, the term idiopathic central hypogonadism (ICH) appears to be more appropriate. This disease should be distinguished from central hypogonadism that is combined with other pituitary deficiencies. Isolated ICH has a complex pathogenesis and is fivefold more prevalent in males. ICH frequently appears in a sporadic form, but several familial cases have also been reported. This finding, in conjunction with the description of numerous pathogenetic gene variants and the generation of several knockout models, supports the existence of a strong genetic component. ICH may be associated with several morphogenetic abnormalities, which include osmic defects that, with ICH, constitute the cardinal manifestations of Kallmann syndrome (KS). KS accounts for approximately 40% of the total ICH cases and has been generally considered to be a distinct subgroup. However, the description of several pedigrees, which include relatives who are affected either with isolated osmic defects, KS, or normo-osmic ICH (nICH), justifies the emerging idea that ICH is a complex genetic disease that is characterized by variable expressivity and penetrance. In this context, either multiple gene variants or environmental factors and epigenetic modifications may contribute to the variable disease manifestations. We review the genetic mechanisms that are presently known to be involved in ICH pathogenesis and provide a clinical overview of the 227 cases that have been collected by the collaborating centres of the Italian ICH Network.

Published
2012

49. Hypopituitarism and growth hormone deficinecy

Author

Aimaretti, G, Ambrosio, Mr, Benvenga, Salvatore, Borretta, G, DE MARINIS, L, DE MENIS, E, DI SOMMA, C, FAUSTINI FUSTINI, M, Grottoli, S, Gasco, V, Gasperi, M, Logoluso, F, Scaroni, C, Giordano, G, and Ghigo, E.

Published
2004

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