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54. 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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55. 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

56. 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

57. 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

58. Effects of dynamic soil-structure interaction on the seismic performance of a tall building founded on piles

Author

de Sanctis, L., Di Laora, R., BILOTTA, EMILIO, D'ONOFRIO, ANNA, SILVESTRI, FRANCESCO, Misko Cobrinovski, de Sanctis, L., Di Laora, R., Bilotta, Emilio, D'Onofrio, Anna, and Silvestri, Francesco

Subjects
soil-structure interaction, dynamic analysis, piled foundation
Abstract

A tall r.c. building in the city of Napoli has recently undergone a seismic vulnerability assessment, in order to satisfy its public function fulfilling the requirements of the new Italian Building Code. The study is focused on the inertial response of the building, accounting for soil deformability and damping. To this aim, the overall structure is idealized as a simple oscillator supported on frequency-dependent springs and dashpots.

Published
2015

60. Effetti della risposta locale e dell'interazione terreno-struttura sulle azioni sismiche di progetto di un edificio alto

Author

BILOTTA, EMILIO, DEL PRETE, IOLANDA, D'ONOFRIO, ANNA, SILVESTRI, FRANCESCO, de Sanctis L, Di Laora R, Aversa S, Mandolini A, Bilotta, Emilio, de Sanctis, L, DEL PRETE, Iolanda, Di Laora, R, D'Onofrio, Anna, Aversa, S, Mandolini, A, and Silvestri, Francesco

Subjects
effetto filtro, risposta sismica locale, interazione dinamica palo-terreno, Vulnerabilità sismica
Abstract

Gli effetti prodotti da un terremoto sugli edifici dipendono da una moltitudine di fattori, fra i quali le caratteristiche del moto sismico, la stratigrafia e le proprietà meccaniche dei terreni, la tipologia e la rigidezza delle fondazioni e della stessa struttura in elevazione. Un esempio paradigmatico in questo senso è rappresentato da un edificio alto circa 110 m nel Centro Direzionale di Napoli fondato su una palificata progettata in modo convenzionale su terreni vulcanici ed alluvionali deformabili. L’analisi della risposta sismica locale mostra che il moto sismico di free-field in superficie dipende fortemente dal dettaglio stratigrafico, soprattutto nell’intervallo di valori del periodo strutturale di interesse per la tipologia di edificio presa in esame. Nel medesimo intervallo, invece, la modifica del moto sismico free-field dovuta all’interazione cinematica palificata-terreno non produce significativi effetti di filtraggio delle azioni sismiche trasmesse in elevazione. La valutazione dell’interazione inerziale, pur se in forma semplificata, permette invece di apprezzare ulteriori significative riduzioni dell’azione sismica in elevazione per effetto della deformabilità della fondazione. I risultati possono costituire un elemento di orientamento, di carattere più generale, per la verifica sismica di edifici alti fondati su palificate in terreni deformabili.

Published
2014

61. Un metodo semplificato per l’analisi non lineare del comportamento di platee su pali

Author

DI LAORA R, DE SANCTIS L, MASCARUCCI Y, MANDOLINI, Alessandro, AA.VV., DI LAORA, R, DE SANCTIS, L, Mascarucci, Y, and Mandolini, Alessandro

Abstract

Nella presente nota viene illustrato un metodo di analisi semplificato dell’interazione piastra-pali-terreno in presenza di carichi verticali. Il metodo tiene conto del comportamento non lineare del contatto piastra-terreno e del gruppo di pali; non consente di prevedere la ripartizione del carico fra i pali, fornendo invece come risultato le curve carico-cedimento della piastra su pali e le due aliquote di carico trasmesse dalla platea al contatto fra questa e il terreno e dal gruppo di pali. Il metodo è stato validato mediante soluzioni di riferimento pubblicate in letteratura.

Published
2014

63. Sensitivity and specificity values of high-risk HPV DNA, p16/ki-67 and HPV mRNA in young women with atypical squamous cells of undetermined significance (ASCUS) or low-grade squamous intraepithelial lesion (LSIL).

Author

FREGA, A., PAVONE, M., SESTI, F., LEONE, C., BIANCHI, P., COZZA, G., COLOMBRINO, C., LUKIC, A., MARZIANI, R., DE SANCTIS, L., DELLI CARPINI, G., CASERTA, D., and CIAVATTINI, A.

Abstract

OBJECTIVE: The aim of the study was to evaluate the sensitivity and specificity values of high-risk HPV DNA test, p16/ki-67, and HPV mRNA in histologically high-grade cervical intraepithelial lesions (CIN2-CIN3) in women aged 21-24 years with diagnosis of atypical squamous cells of undetermined significance (ASCUS) or low-grade squamous intraepithelial lesion (LSIL) at pap smear. PATIENTS AND METHODS: 342 patients between 21-24 years old, attending spontaneously our clinics, 118 with ASCUS and 224 with LSIL, were enrolled in the study. All patients underwent colposcopy and biopsies were performed in the areas with major changes. All patients were tested at the same time for p16/ki-67, highrisk HPV DNA and HPV mRNA. RESULTS: Nineteen out of 118 women with ASCUS showed a high-grade cervical intraepithelial lesion, 11 out of 118 (9.32%) CIN2, and 8 out of 118 (6.78%) CIN3. The sensitivity of high-risk HPV DNA was 99.9%, and the specificity 23.2%; p16/ki-67 pointed out a sensitivity of 90.9%, and a specificity of 81.8%; HPV mRNA showed a sensitivity of 81.8%, and specificity of 87.9% in CIN2 lesions. In CIN3 lesions, the sensitivity of high-risk HPV DNA was 99.9%, while the specificity was 19.1%; p16/ki-67 showed a sensitivity of 99.9%, and a specificity of 73.7%; HPV mRNA relived a sensitivity of 87.5%, and a specificity of 80.8%. In women with LSIL, a total of 42/224 (18.75%) of CIN2 were found at the histopathological examination, while 17/224 (7.59%) women presented a CIN3. No case of invasive cancer was identified. High-risk HPV DNA was positive in 190/224 (84.8%), p16/ki-67 in 119/224 (53.1%), and HPV mRNA in 104/224 (46.4%). In women with CIN2, the sensitivity of high-risk HPV DNA was of 92.8%, and the specificity 17.5%, the sensitivity of p16/ki-67 was 95.2%, and specificity 61.8%. HPV mRNA showed a sensitivity of 88.8% and a specificity of 87.8%. In women with CIN3, the sensitivity of high-risk HPV DNA was 88.2%, and the specificity 29.7%; p16/ki-67 pointed out a sensitivity of 94.1%, and a specificity of 49%; HPV mRNA showed a sensitivity of 88.2% and a specificity of 80.6. CONCLUSIONS: Taking into account the high rate of spontaneous regression of high-grade lesions in young women, these tests, in particular, the HPV mRNA test, used as a triage test for ASCUS or LSIL, can modify follow-up triage strategy. In fact, this biomarker, due to its high specificity, could lead to a cytology repetition instead of an immediate colposcopy, avoiding over diagnosis and potential overtreatment in this category of women. [ABSTRACT FROM AUTHOR]

Published
2019

68. Congenital syphilis in Italy: a multicentre study

Author

Tridapalli, E., Capretti, M. G., Reggiani, M. L. B., Stronati, M., Faldella, G., Auriti, C., Balata, A., Barera, G., Bennato, E., Berardi, A., Bolognesi, S., Bonomi, A., Boulos, F., Brambilla, C., Branchi, M., Cabiati, G., Caddia, V., Calzetti, G., Campanile, A., Cataldo, P., Cavagna, R., Chiarolini, A., Ciccia, M., Ciccotti, R., Ciofalo, A., Contiero, R., Corona, G., Corso, G., Costa, L., Coviello, C., Cristofori, G., Crivellaro, C., Cucchi, G., Danese, G., Da Riol, R., Decembrino, L., Delogu, A., Del Vecchio, A., De Sanctis, L., Di Chiara, G., Di Comite, A., Di Grande, E. C., D'Onofrio, A. M., Faccia, P., Ferrari, D., Fortunati, P., Gabriella, T. L., Galimberti, D., Garzia, P., Giorgino, M., Gragnani, S., Gurrido, R., Lacaita, G., Leone, G., Lipari, A., Lorenzini, C., Lo Sciotto, P., Malagutti, L., Maschio, F., Matteucci, L., Migliozzi, L., Mileti, F., Murgia, M. R., Navone, M., Nosari, N., Notarmuzi, M. L., Pagliani, L., Paino, D., Papa, I., Papili, F., Parisi, G., Perocchi, F., Perona, A., Pirrami, R., Pitassi, I., Priore, Raponi, S., Rizzo, V., Robieux, I., Rossi, A., Ruffini, E., Russo, R., Salvi, G., Serra, L., Sferlazzo, S., Solimano, T., Spadaro, V., Stramare, D., Stroppiana, P., Tarquini, E., Taurino, L., Tedoldi, S., Tessariol, D., Travaglio, M. D., Vagnarelli, F., Valente, A., Valentini, P., Volta, A., Zaffaroni, M., Tridapalli E, Capretti MG, Reggiani ML, Stronati M, Faldella G, and Italian Neonatal Task Force of Congenital Syphilis for The Italian Society of Neonatology – Collaborative Group.

Subjects
medicine.medical_specialty, Pediatrics, Adolescent, Reproductive medicine, Infant, Premature, Diseases, Prenatal care, Young Adult, Foreign born, Pregnancy, Risk Factors, Seroepidemiologic Studies, Age Factors, Birth Weight, Female, Humans, Infant, Newborn, Infant, Premature, Italy, Maternal Age, Pregnancy Complications, Infectious, Prenatal Care, Prospective Studies, Syphilis, Syphilis, Congenital, medicine, CONGENITAL SYPHILIS, Seroprevalence, Reproductive health, business.industry, Obstetrics and Gynecology, General Medicine, medicine.disease, Congenital syphilis, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Pediatrics, Perinatology and Child Health, MULTICENTER STUDY, business
Abstract

OBJECTIVE: To study the prevalence of congenital syphilis and its risk factors in Italy. STUDY DESIGN: Prospective study from 1 July 2006 to 30 June 2007. Data on mother-child pairs were collected for every syphilis seropositive mother. RESULTS: Maternal syphilis seroprevalence at delivery was 0.17%. 207 infants were born to 203 syphilis seropositive mothers. In 25 newborns it was possible to diagnose congenital syphilis (20/100,000 live births). Maternal risk factors included age

Published
2010
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70. Bearing capacity of piled rafts on soft clayey soils

Author

DE SANCTIS L., MANDOLINI, Alessandro, DE SANCTIS, L., and Mandolini, Alessandro

Subjects
pile group, bearing capacity, soft soil, clay, raft foundation
Abstract

A numerical code for the prediction of the settlement of pile groups and piled rafts is presented. The code is based on the interaction factors method; the non-linearity is simulated as suggested by Caputo and Viggiani, that is, concentrating it at the pile-soil interface. In the linear range, the accuracy is checked against known benchmark solutions. A standard procedure, based on the results of load tests on single piles, is suggested for the evaluation of soil properties and for the implementation of the analysis in real cases. Nineteen well-documented case histories are then analysed, calculating for each of them a linear elastic, an equivalent linear elastic and a non-linear solution. Five out of the 19 cases are illustrated in some detail, to allow a deeper insight into the procedure. In all but one of the analysed cases the predicted values of the average settlement are within ±20% of the observed values. The maximum differential settlement is predicted with slightly lesser accuracy. For foundations characterized by a relatively high safety factor, linear and non-linear analyses are essentially equivalent. Some evidence suggests that the low-strain shear modulus, obtained by in situ shear wave velocity measurements, can be successfully employed in the prediction of the settlement. When the safety factor is low, the consideration of non-linearity becomes mandatory.

Published
2006

73. Inactivating PTH/PTHrP Signalling Disorder (iPPSD), une nouvelle proposition de classification pour les pseudohypoparathyroïdies par le réseau européen EuroPHP

Author

Thiele, S., primary, Mantovani, G., additional, Barlier, A., additional, De Sanctis, L., additional, Freson, K., additional, Garin, I., additional, Hanna, P., additional, Lecumberri, B., additional, Pereda, A., additional, Saraff, V., additional, Silve, C., additional, Turan, S., additional, Usardi, A., additional, De Nanclares, G. Perez, additional, and Linglart, A., additional

Published
2016
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82. Characterization of Phenylketonuria Alleles in the Italian Population

Author

Alliaudi C, Alberto Burlina, Paolo Lattanzio, Dionisi Vici C, Gianfranco Sebastio, de Sanctis L, Irma Dianzani, Sergio Giannattasio, Carnevale F, and Burroni M

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Phenylalanine hydroxylase, DNA Mutational Analysis, Molecular Sequence Data, medicine.disease_cause, Genetic Heterogeneity, Phenylketonurias, Genetics, medicine, Phenylketonuria, Humans, Coding region, Allele, Gene, Alleles, Genetics (clinical), DNA Primers, Molecular Epidemiology, Mutation, Base Sequence, biology, Genotype/phenotype correlation, Phenylalanine hydroxylase, Phenylketonuria, Haplotype, Phenylalanine Hydroxylase, nutritional and metabolic diseases, Phenotype, Italy, Genotype/phenotype correlation, biology.protein, Restriction fragment length polymorphism, Oligonucleotide Probes, Polymorphism, Restriction Fragment Length
Abstract

In order to identify the molecular basis of phenylketonuria (PKU) in Italy, we screened the entire coding sequence of the phenylalanine hydroxylase gene in 20 Italian PKU patients, whose origins are scattered throughout Italy. The frequency of each identified mutation and of 5 other European mutations was determined within a panel of 92 Italian PKU patients. This approach allowed us to identify 20 different PKU mutations and characterize 64% of the Italian PKU chromosomes. Eleven mutations (IVS10nt546, L48S, R158Q, R261Q, P281L, R261X, R252W, delta T55, IVS7nt1, IVS12nt1, Y414C) represent 55.4% of the Italian PKU alleles, the most common mutations being IVS10nt546 (12.4%) and L48S (9%). All the other mutations are very rare. These data confirm the great heterogeneity expected from previous RFLP haplotype studies. Genotype/phenotype correlation allowed for assessment of the clinical impact of the 20 identified mutations.

Published
1995
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94. Genetic history of PKU mutations in Italy

Author

Dianzani I, Giannattasio S, De Sanctis L, Marra E, Ponzone A, Piazza A., CAMASCHELLA , CLARA, Dianzani, I, Giannattasio, S, De Sanctis, L, Marra, E, Ponzone, A, Camaschella, Clara, and Piazza, A.

Published
1994

99. Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.

Author

de Sanctis, L., Giachero, F., Mantovani, G., Weber, G., Salerno, M., Baroncelli, G. I., Elli, M. F., Matarazzo, P., Wasniewska, M., Mazzanti, L., Scirè, G., and Tessaris, D.

Subjects
*CELLULAR signal transduction, *GENES, *GENETICS, *HYPOPARATHYROIDISM, *EPIGENOMICS
Abstract

Background: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsa protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsa protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders. Methods: The molecular analysis of the GNAS gene and locus identified the causal alteration in 74 subjects (46 genetic and 28 epigenetic mutations). The clinical data at the diagnosis and their evolution during up to 15 years follow-up were collected using two different cards. Results: In patients with genetic mutations the growth impairment worsen during the time, while obesity prevalence decreases; subcutaneous ossifications seem specific for this group. Brachydactyly has been detected in half of the subjects with epigenetic alterations, in which the disease overts later in life, often with symptomatic hypocalcaemia, and also early TSH and GHRH resistances have been recorded. Conclusions: A dedicated healthcare pathway addressing all these aspects in a systematic way would improve the clinical management, allowing an earlier recognition of some PHP features, the optimization of their medical treatment and a better clinical-oriented molecular analysis. Furthermore, standardized follow-up data would provide new insight into less known aspects. [ABSTRACT FROM AUTHOR]

Published
2016
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