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8 results on '"De Sanctis, L."'

1. Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project:rationale and protocol

Author

Clement, S. C., Visser, W. E., Lebbink, C. A., Albano, D., Claahsen-Van der Grinten, H. L., Czarniecka, A., Dias, R. P., Dierselhuis, M. P., Dzivite-Krisane, I., Elisei, R., Garcia-Burillo, A., Izatt, L., Kanaka-Gantenbein, C., Krude, H., Lamartina, L., Lorenz, K., Luster, M., Navardauskaitė, R., Negre Busó, M., Newbold, K., Peeters, R. P., Pellegriti, G., Piccardo, A., Priego, A. L., Redlich, A., de Sanctis, L., Sobrinho-Simões, M., van Trotsenburg, A. S.P., Verburg, F. A., Vriens, M., Links, T. P., Ahmed, S. F., van Santen, H. M., Clement, S. C., Visser, W. E., Lebbink, C. A., Albano, D., Claahsen-Van der Grinten, H. L., Czarniecka, A., Dias, R. P., Dierselhuis, M. P., Dzivite-Krisane, I., Elisei, R., Garcia-Burillo, A., Izatt, L., Kanaka-Gantenbein, C., Krude, H., Lamartina, L., Lorenz, K., Luster, M., Navardauskaitė, R., Negre Busó, M., Newbold, K., Peeters, R. P., Pellegriti, G., Piccardo, A., Priego, A. L., Redlich, A., de Sanctis, L., Sobrinho-Simões, M., van Trotsenburg, A. S.P., Verburg, F. A., Vriens, M., Links, T. P., Ahmed, S. F., and van Santen, H. M.

Abstract

Background: Although differentiated thyroid carcinoma (DTC) is the most frequent endocrine pediatric cancer, it is rare in childhood and adolescence. While tumor persistence and recurrence are not uncommon, mortality remains extremely low. Complications of treatment are however reported in up to 48% of the survivors. Due to the rarity of the disease, current treatment guidelines are predominantly based on the results of small observational retrospective studies and extrapolations from results in adult patients. In order to develop more personalized treatment and follow-up strategies (aiming to reduce complication rates), there is an unmet need for uniform international prospective data collection and clinical trials. Methods and analysis: The European pediatric thyroid carcinoma registry aims to collect clinical data for all patients ≤18 years of age with a confirmed diagnosis of DTC who have been diagnosed, assessed, or treated at a participating site. This registry will be a component of the wider European Registries for Rare Endocrine Conditions project which has close links to Endo-ERN, the European Reference Network for Rare Endocrine Conditions. A multidisciplinary expert working group was formed to develop a minimal dataset comprising information regarding demographic data, diagnosis, treatment, and outcome. We constructed an umbrella-type registry, with a detailed basic dataset. In the future, this may provide the opportunity for research teams to integrate clinical research questions. Ethics and dissemination: Written informed consent will be obtained from all participants and/or their parents/guardians. Summaries and descriptive analyses of the registry will be disseminated via conference presentations and peer-reviewed publications.

Published
2023

2. Development of a pediatric differentiated thyroid carcinoma registry within the EuRRECa project: rationale and protocol

Author

Endocrinologie onderzoek, Arts-assistenten Kinderen, CTI Van der Vlist, Cancer, Heelkunde Opleiding, MS CGO, Endocrinologie patientenzorg, Brain, Child Health, Clement, S. C., Visser, W. E., Lebbink, C. A., Albano, D., Claahsen-Van der Grinten, H. L., Czarniecka, A., Dias, R. P., Dierselhuis, M. P., Dzivite-Krisane, I., Elisei, R., Garcia-Burillo, A., Izatt, L., Kanaka-Gantenbein, C., Krude, H., Lamartina, L., Lorenz, K., Luster, M., Navardauskaitė, R., Negre Busó, M., Newbold, K., Peeters, R. P., Pellegriti, G., Piccardo, A., Priego, A. L., Redlich, A., de Sanctis, L., Sobrinho-Simões, M., van Trotsenburg, A. S.P., Verburg, F. A., Vriens, M., Links, T. P., Ahmed, S. F., van Santen, H. M., Endocrinologie onderzoek, Arts-assistenten Kinderen, CTI Van der Vlist, Cancer, Heelkunde Opleiding, MS CGO, Endocrinologie patientenzorg, Brain, Child Health, Clement, S. C., Visser, W. E., Lebbink, C. A., Albano, D., Claahsen-Van der Grinten, H. L., Czarniecka, A., Dias, R. P., Dierselhuis, M. P., Dzivite-Krisane, I., Elisei, R., Garcia-Burillo, A., Izatt, L., Kanaka-Gantenbein, C., Krude, H., Lamartina, L., Lorenz, K., Luster, M., Navardauskaitė, R., Negre Busó, M., Newbold, K., Peeters, R. P., Pellegriti, G., Piccardo, A., Priego, A. L., Redlich, A., de Sanctis, L., Sobrinho-Simões, M., van Trotsenburg, A. S.P., Verburg, F. A., Vriens, M., Links, T. P., Ahmed, S. F., and van Santen, H. M.

Published
2023

3. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Author

Mantovani, G. (Giovanna), Bastepe, M. (Murat), Monk, A.B. (Alastair), de Sanctis, L. (Luisa), Thiele, S. (Susanne), Usardi, A. (Alessia), Ahmed, S.F. (Sayed), Bufo, R. (Roberto), Choplin, T. (Timothée), de Filippo, G. (Gianpaolo), Devernois, G. (Guillemette), Eggermann, T. (Thomas), Elli, F.M. (Francesca M.), Freson, K. (Kathleen), García Ramirez, A. (Aurora), Germain-Lee, E.L. (Emily L.), Groussin, L. (Lionel), Hamdy, N.A. (Neveen), Hanna, P. (Patrick), Hiort, O. (Olaf), Jüppner, H. (Harald), Kamenický, P. (Peter), Knight, N. (Nina), Kottler, M.-L. (Marie-Laure), Le Norcy, E. (Elvire), Lecumberri, B. (Beatriz), Levine, M.A. (Michael A.), Mäkitie, O. (Outi), Martin, R. (Regina), Martos-Moreno, G.Á. (Gabriel Ángel), Minagawa, M. (Masanori), Murray, P. (Philip), Pereda, A. (Arrate), Pignolo, R. (Robert), Rejnmark, L. (Lars), Rodado, R. (Rebecca), Rothenbuhler, A. (Anya), Saraff, V. (Vrinda), Shoemaker, A.H. (Ashley H.), Shore, E.M. (Eileen M.), Silve, C. (Caroline), Turan, S. (Serap), Woods, P. (Philip), Zillikens, M.C. (Carola), Perez de Nanclares, G. (Guiomar), Linglart, A. (Agnès), Mantovani, G. (Giovanna), Bastepe, M. (Murat), Monk, A.B. (Alastair), de Sanctis, L. (Luisa), Thiele, S. (Susanne), Usardi, A. (Alessia), Ahmed, S.F. (Sayed), Bufo, R. (Roberto), Choplin, T. (Timothée), de Filippo, G. (Gianpaolo), Devernois, G. (Guillemette), Eggermann, T. (Thomas), Elli, F.M. (Francesca M.), Freson, K. (Kathleen), García Ramirez, A. (Aurora), Germain-Lee, E.L. (Emily L.), Groussin, L. (Lionel), Hamdy, N.A. (Neveen), Hanna, P. (Patrick), Hiort, O. (Olaf), Jüppner, H. (Harald), Kamenický, P. (Peter), Knight, N. (Nina), Kottler, M.-L. (Marie-Laure), Le Norcy, E. (Elvire), Lecumberri, B. (Beatriz), Levine, M.A. (Michael A.), Mäkitie, O. (Outi), Martin, R. (Regina), Martos-Moreno, G.Á. (Gabriel Ángel), Minagawa, M. (Masanori), Murray, P. (Philip), Pereda, A. (Arrate), Pignolo, R. (Robert), Rejnmark, L. (Lars), Rodado, R. (Rebecca), Rothenbuhler, A. (Anya), Saraff, V. (Vrinda), Shoemaker, A.H. (Ashley H.), Shore, E.M. (Eileen M.), Silve, C. (Caroline), Turan, S. (Serap), Woods, P. (Philip), Zillikens, M.C. (Carola), Perez de Nanclares, G. (Guiomar), and Linglart, A. (Agnès)

Abstract

This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

Published
2018
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4. Growth hormoneInsulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome

Author

Tessaris, D, Boyce, AM, Zacharin, M, Matarazzo, P, Lala, R, De Sanctis, L, Collins, MT, Tessaris, D, Boyce, AM, Zacharin, M, Matarazzo, P, Lala, R, De Sanctis, L, and Collins, MT

Abstract

CONTEXT: In fibrous dysplasia (BFD), normal bone and bone marrow are replaced by fibro-osseous tissue, leading to fracture, deformity and pain. BFD may be isolated, or in association with cutaneous hyperpigmentation and/or hyperfunctioning endocrinopathies, termed McCune-Albright syndrome (MAS). GH hypersecretion has been described in 10%-20% of MAS-BFD patients. Aim of the study was to determine the impact of GH-insulin like growth factor 1 (IGF1) axis hyperactivity on MAS-BFD morbidities and the efficacy of GH excess therapy. DESIGN AND PATIENTS: A multicentric cross-sectional analysis was conducted on three different MAS cohorts. From 195 MAS patients, 37 subjects (19%) with GH excess were identified and compared with 34 MAS controls without GH hypersecretion. RESULTS: Mean head circumference SDS was significantly higher in GH excess: 4.025 SDS vs 0.683 SDS (P < .0001). The risk of optic neuropathy (Odds ratio 4.231; P = .039), hearing deficit (Odds ratio 2.961; P = .0481), facial asymmetry (Odds ratio 6.563; P = .0192), malignancies (Odds ratio 15.24; P = .0173) were higher in GH excess group. Overall, pharmacotherapy (octreotide alone 10-30 mg/mo or with pegvisomant 10-20 mg/d) was effective in IGF1 normalization (IGF1 Z-score between -2 and +2 SDS) in 21/29 patients (72.4%) with good compliance to the regimen. Late diagnosis and GH excess treatment after 16 years old of age was associated with an increased risk of optic neuropathy (Odds ratio 4.500; P = .0491) and growth of pituitary adenomas (Odds ratio 7.846; P = .050). CONCLUSIONS: GH-IGF1 hyperactivity increases risk of morbidities in MAS. Medical therapy is effective in normalizing IGF1 in most patients, and early treatment during paediatric age is associated with a decreased risk of optic neuropathy and GH-secreting adenomas growth.

Published
2018

5. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Author

Mantovani, G, Bastepe, M, Monk, D, de Sanctis, L, Thiele, S, Usardi, A, Ahmed, SF, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, FM, Freson, K, Ramirez, AG, Germain-Lee, EL, Groussin, L, Hamdy, N, Hanna, P, Hiort, O, Juppner, H, Kamenicky, P, Knight, N, Kottler, ML, Le Norcy, E, Lecumberri, B, Levine, MA, Makitie, O, Martin, R, Martos-Moreno, GA, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, AH, Shore, EM, Silve, C, Turan, S, Woods, P, Zillikens, M.C., de Nanclares, GP, Linglart, A, Mantovani, G, Bastepe, M, Monk, D, de Sanctis, L, Thiele, S, Usardi, A, Ahmed, SF, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, FM, Freson, K, Ramirez, AG, Germain-Lee, EL, Groussin, L, Hamdy, N, Hanna, P, Hiort, O, Juppner, H, Kamenicky, P, Knight, N, Kottler, ML, Le Norcy, E, Lecumberri, B, Levine, MA, Makitie, O, Martin, R, Martos-Moreno, GA, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, AH, Shore, EM, Silve, C, Turan, S, Woods, P, Zillikens, M.C., de Nanclares, GP, and Linglart, A

Published
2018

6. Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

Author

Casula, M., Olmastroni, E., Pirillo, A., Catapano, A. L., Averna, M., Bertolini, Stefania, Calandra, S., Tarugi, P., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A. C., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, Marco, Ferri, C., Fiorenza, A. M., Giaccari, Andrea, Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Lupi, Alessandro, Mandraffino, G., Marcucci, R., Maroni, L., Miccoli, R., Mombelli, Gaia, Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabba, C., Sampietro, T., Sarzani, R., Tagliabue, M. P., Trenti, C., Vigna, G. B., Werba, J. P., Zambon, S., Zenti, M. G., Minicocci, I., Noto, D., Fortunato, G., Banderali, G., Benso, A., Bigolin, P., Bonora, E., Bruzzi, P., Bucci, M., Buonuomo, Paola Sabrina, Capra, M. E., Cardolini, I., Cefalu, B., Cervelli, N., Chiariello, Giovanni Alfonso, Cocci, G., Colombo, E., Cremonini, A. L., D'Addato, S., D'Erasmo, L., Dal Pino, B., De Sanctis, L., De Vita, E., Del Ben, M., Di Costanzo, A., Di Taranto, M. D., Fasano, T., Gentile, L., Gentile, Marino, Ghirardello, O., Grigore, L., Lussu, M., Meregalli, G., Moffa, Simona, Montalcini, T., Morgia, V., Nascimbeni, F., Pasta, A., Pavanello, C., Saitta, A., Scicali, R., Siepi, D., Spagnolli, W., Spina, R., Sticchi, E., Suppressa, P., Vigo, L., Vinci, P., Manzato, E., Tragni, E., Zampoleri, V., Arca, M., Bertolini S., Federici M., Giaccari A. (ORCID:0000-0002-7462-7792), Lupi A., Mombelli G., Buonuomo P. S., Chiariello G., Gentile M., Moffa S., Casula, M., Olmastroni, E., Pirillo, A., Catapano, A. L., Averna, M., Bertolini, Stefania, Calandra, S., Tarugi, P., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A. C., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, Marco, Ferri, C., Fiorenza, A. M., Giaccari, Andrea, Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Lupi, Alessandro, Mandraffino, G., Marcucci, R., Maroni, L., Miccoli, R., Mombelli, Gaia, Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabba, C., Sampietro, T., Sarzani, R., Tagliabue, M. P., Trenti, C., Vigna, G. B., Werba, J. P., Zambon, S., Zenti, M. G., Minicocci, I., Noto, D., Fortunato, G., Banderali, G., Benso, A., Bigolin, P., Bonora, E., Bruzzi, P., Bucci, M., Buonuomo, Paola Sabrina, Capra, M. E., Cardolini, I., Cefalu, B., Cervelli, N., Chiariello, Giovanni Alfonso, Cocci, G., Colombo, E., Cremonini, A. L., D'Addato, S., D'Erasmo, L., Dal Pino, B., De Sanctis, L., De Vita, E., Del Ben, M., Di Costanzo, A., Di Taranto, M. D., Fasano, T., Gentile, L., Gentile, Marino, Ghirardello, O., Grigore, L., Lussu, M., Meregalli, G., Moffa, Simona, Montalcini, T., Morgia, V., Nascimbeni, F., Pasta, A., Pavanello, C., Saitta, A., Scicali, R., Siepi, D., Spagnolli, W., Spina, R., Sticchi, E., Suppressa, P., Vigo, L., Vinci, P., Manzato, E., Tragni, E., Zampoleri, V., Arca, M., Bertolini S., Federici M., Giaccari A. (ORCID:0000-0002-7462-7792), Lupi A., Mombelli G., Buonuomo P. S., Chiariello G., Gentile M., and Moffa S.

Abstract

Background and aims: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods: This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH. Results: The DLCN score was applied on a sample of 1377 adults (mean age 42.9 ± 14.2 years) with genetic diagnosis of FH, resulting in 28.5% of the sample classified as probable FH and 37.9% as classified definite FH. Among these subjects, 43.4% had at least one missing data out of 8, and about 10.0% had 4 missing data or more. When analyzed based on the type of missing data, a higher percentage of subjects with at least 1 missing data in the clinical history or physical examination was classified as possible FH (DLCN score 3–5). We also found that using real or estimated pre-treatment LDL-C levels may significantly modify the DLCN score. Conclusions: Although the DLCN score is a useful tool for physicians in the diagnosis of FH, it may be limited by the complexity to retrieve all the essential information, suggesting a crucial role of the clinical judgement in the identification of FH subjects.

Published
2018

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