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123 results on '"Einaudi, S."'

5. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry

Author

Bacila, I., Freeman, N., Daniel, E., Sandrk, M., Bryce, J., Ali, S.R., Abali, Z. Yavas, Atapattu, N., Bachega, T.A., Balsamo, A., Birkebæk, N., Blankenstein, O., Bonfig, W., Cools, M., Costa, E.C., Darendeliler, F., Einaudi, S., Elsedfy, H.H., Finken, M., Gevers, E., Claahsen-van der Grinten, H.L., Guran, T., Güven, A., Hannema, S.E., Higham, C.E., Iotova, V., Kamp, H.J. van de, Korbonits, M., Krone, R.E., Lichiardopol, C., Luczay, A., Mendonca, B.B., Milenkovic, T., Miranda, M.C., Mohnike, K., Neumann, U., Ortolano, R., Poyrazoglu, S., Thankamony, A., Tomlinson, J.W., Vieites, A., Vries, L. de, Ahmed, S.F., Ross, R.J.M., Krone, N.P., Bacila, I., Freeman, N., Daniel, E., Sandrk, M., Bryce, J., Ali, S.R., Abali, Z. Yavas, Atapattu, N., Bachega, T.A., Balsamo, A., Birkebæk, N., Blankenstein, O., Bonfig, W., Cools, M., Costa, E.C., Darendeliler, F., Einaudi, S., Elsedfy, H.H., Finken, M., Gevers, E., Claahsen-van der Grinten, H.L., Guran, T., Güven, A., Hannema, S.E., Higham, C.E., Iotova, V., Kamp, H.J. van de, Korbonits, M., Krone, R.E., Lichiardopol, C., Luczay, A., Mendonca, B.B., Milenkovic, T., Miranda, M.C., Mohnike, K., Neumann, U., Ortolano, R., Poyrazoglu, S., Thankamony, A., Tomlinson, J.W., Vieites, A., Vries, L. de, Ahmed, S.F., Ross, R.J.M., and Krone, N.P.

Abstract

Contains fulltext : 231533.pdf (Publisher’s version ) (Open Access), OBJECTIVE: Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in CAH. DESIGN: This retrospective multi-center study, including 31 centers (16 countries), analyzed data from the International-CAH Registry. METHODS: Data were collected from 461 patients aged 0-18 years with classic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 and 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement were analyzed from 4174 patient visits. RESULTS: The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equivalent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0-14.5) mg/m2/day at age 1-8 years and the highest dose of 14.0 (11.6-17.4) mg/m2/day at age 12-18 years. Glucocorticoid doses decreased after 2010 in patients 0-8 years (P < 0.001) and remained unchanged in patients aged 8-18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countries with regards to all aspects of steroid hormone replacement. CONCLUSIONS: Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children.

Published
2021

10. PORpolymorphisms are associated with 21 hydroxylase deficiency

Author

Pecori Giraldi, F., Einaudi, S., Sesta, A., Verna, F., Messina, M., Manieri, C., Menegatti, E., and Ghizzoni, L.

Abstract

Purpose: Genotype–phenotype correlation in congenital 21 hydroxylase deficiency is strong but by no means absolute. Indeed, clinical and hormonal features may vary among patients carrying similar CYP21A2mutations, suggesting that modifier genes may contribute to the phenotype. Aim of the present study was to evaluate whether polymorphisms in the p450  oxidoreductase (POR) gene may affect clinical features in patients with 21 hydroxylase deficiency Methods: Sequencing of the PORgene was performed in 96 patients with 21 hydroxylase deficiency (49 classic, 47 non-classic) and 43 control subjects. Results: Prevalence of PORpolymorphisms in patients with 21 hydroxylase was comparable to controls and known databases. The rs2228104 polymorphism was more frequently associated with non-classic vs classic 21 hydroxylase deficiency (allelic risk 7.09; 95% C.I. 1.4–29.5, p&lt; 0.05). Classic 21 hydroxylase-deficient carriers of the minor allele in the rs2286822/rs2286823 haplotype presented more frequently the salt-wasting form (allelic risk 1.375; 95% C.I. 1.138–1.137), more severe Prader stage at birth (allelic risk 3.85; 95% C.I. 3.78–3.92), higher ACTH levels, and younger age at diagnosis. Conclusions: Polymorphisms in the PORgene are associated with clinical features of 21 hydroxylase deficiency both as regards predisposition to classic vs non-classic forms and severity of classic adrenal hyperplasia.

Published
2021
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11. Endogenous growth hormone secretion does not correlate with growth in patients with Turner's syndrome

Author

luciano cavallo, Gurrado, R., Bernasconi, S., Bona, G., Buzi, F., Cacciari, E., Mazzanti, L., Luca, F., Sanctis, V., Einaudi, S., Gabrielli, O., Guarneri, M. P., Manzoni, P., Morabito, F., Pasquino, A. M., Pullano, V., Radetti, G., Ragusa, M. C., Rigon, F., Saggese, G., Cinquanta, L., Salerno, M. C., Severi, F., Larizza, D., Sposito, M., Stoppoloni, G., Tatò, L., Tonini, G., Cavallo, L., Gurrado, R., Bernasconi, S., Bona, G., Buzi, F., Cacciari, E., Mozzanti, L., De Luca, F., De Sanctis, V., Einaudi, S., Gabrielli, O., Guarnieri, M. P., Manzoni, P., Morabito, F., Pasquino, A. M., Pullano, V., Radetti, G., Ragusa, M. C., Rigon, F., Saggese, G., Cinquanta, L., Salerno, Mariacarolina, Severi, F., Larizza, D., Sposito, M., Stoppoloni, G., Tatò, L., and Tonini, G.

Subjects
Endogenous growth hormone secretion,growth, Turner Syndrome, Italian Study Group for Turner Syndrome
Abstract

We investigated in Turner's syndrome patients whether the decrease in growth hormone (GH) secretion is frequent or sporadic, whether or not reduced GH secretion contributes to insufficient growth, and whether age, spontaneous presence of telarche and/or pubarche, karyotype and weight influence GH secretion decrease. We evaluated GH reserve in 301 patients by classical stimulation tests and in 68 of these patients mean nocturnal spontaneous secretion was also measured. Spontaneous telarche and/or pubarche were present in 33% of girls aged > 9 years. In 11% of patients, weight was more than 20% above levels appropriate for height. In 36.2% of patients (low-responders), we observed a reduction of the GH reserve (peak < or = 10 micrograms/l during two stimulation tests). Moreover, we noted reduced mean nocturnal spontaneous secretion (< or = 3.3 micrograms/l) in 61.8% of patients. Karyotype and the presence/absence of spontaneous telarche and/or pubarche did not influence either GH reserve or mean nocturnal spontaneous secretion. GH secretion (both GH reserve and mean nocturnal spontaneous secretion) did not influence height, yet low-responders had a significantly higher chronological age than normal-responders. Obese Turner's girls were low-responders and showed reduced mean nocturnal spontaneous secretion more frequently than normal weight girls; body mass index was significantly higher in patients with reduced GH secretion when compared to patients with normal GH secretion. We conclude that impairment of GH secretion is frequent in Turner's syndrome patients, especially if obese; that GH secretion impairment is not related to karyotype or spontaneous telarche and/or pubarche; that GH secretion is irrelevant to growth in these, patients and, therefore, its evaluation is unnecessary.

Published
1999

27. Endocrinologia

Author

De Sanctis, C, Bianchi, M, Bona, Gianni, Canavese, F, Chiabotto, P, Corrias, A, Einaudi, S, Lala, R, Matarazzo, P, Pianino, P, Silvestro, Leandra, and Mussa, Gc

Published
2001

31. Guide lines for the auxlogical follow-up of thalassemic patients[Linee guida per il follow-up auxologico del paziente talassemico]

Author

Caruso Nicoletti, M., De Sanctis, V., Anastasi, S., Cavagnini, F., Cavallo, L., Cilla, A., Cisternino, M., DE LUCA, Filippo, De Simone, M., Di Gregorio, F., Einaudi, S., Galati, M. C., Gallisai, D., Erardi, C., Malizia, R., Mangiagli, A., Meo, A., Pasquino, A. M., Pintor, C., Ponzi, G., Quarta, G., Romondia, A., Ruggiero, L., Saviano, A., Sacco, M., and Stefano, I.

Published
1997

32. Measurement of height velocity is an useful marker for monitoring pituitary function in patients who had traumatic brain injury

Author

Bellone, S., primary, Einaudi, S., additional, Caputo, M., additional, Prodam, F., additional, Busti, A., additional, Belcastro, S., additional, Parlamento, S., additional, Zavattaro, M., additional, Verna, F., additional, Bondone, C., additional, Tessaris, D., additional, Gasco, V., additional, Bona, G., additional, and Aimaretti, G., additional

Published
2012
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47. Priorities among off-label prescriptions: Paediatricians' perspective,Le priorità associate all'uso dei farmaci 'off-label': Il punto di vista del pediatra ospedaliero

Author

Marchetti, F., Bua, J., Demarini, S., Devescovi, R., Germani, C., Mergoni, P., Messi, G., Marco Pennesi, Rabusin, M., Sarti, A., Ventura, A., Arrighini, A., Chirico, G., Duse, M., Miguetti, N., Molinaro, M. S., Notarangelo, L. D., Porta, F., Porteri, V., Soncini, E., Schumacher, R. F., Di Maio, S., Di Martino, L., Giordano, L., Leva, F., Pecoraro, C., Baldi, M., Banaudi, E., Einaudi, S., Migliore, G., Pecco, P., Saracco, P., Tocchet, A., and Bonati, M.

48. Clinical and auxological evaluation in patients with molecular diagnosis of X-linked nephrogenic diabetes insipidus,Valutazione clinica ed auxolcgica in pazienti con diagnosi molecolare di diabete insipido nefrogenico ad ereditarietà legata al cromosoma X

Author

Procaccio, M., Bice Chini, Albertazzi, E., Faranda, S., Frattini, A., Vezzoni, P., Fossali, E., Appiani, A. C., Natale, B. D. I., Lukesich, M., Volti, S. L. I., Rosini, A., Einaudi, S., Pecoraro, C., Miglietti, N., Razzoli, E., Maggi, M., and Bettinelli, A.

50. Diagnostic features of thyroid nodules in pediatrics

Author

Andrea Corrias, Alessandro Mussa, BARONIO, FEDERICO, Teresa Arrigo, Mariacarolina Salerno, Maria Segni, Maria Cristina Vigone, Roberto Gastaldi, Giuseppa Zirilli, Gerdi Tuli, Luciano Beccaria, Lorenzo Iughetti, Silvia Einaudi, Giovanna Weber, Filippo De Luca, CASSIO, ALESSANDRA, Study Group for Thyroid Diseases of Italian Society for Pediatric Endocrinology, Diabetology, Corrias, A, Mussa, A, Baronio, F, Arrigo, T, Salerno, M, Segni, M, Vigone, Mc, Gastaldi, R, Zirilli, G, Tuli, G, Beccaria, L, Iughetti, L, Einaudi, S, Weber, Giovanna, De Luca, F, Cassio, A., Andrea Corria, Alessandro Mussa, Federico Baronio, Teresa Arrigo, Mariacarolina Salerno, Maria Segni, Maria Cristina Vigone, Roberto Gastaldi, Giuseppa Zirilli, Gerdi Tuli, Luciano Beccaria, Lorenzo Iughetti, Silvia Einaudi, Giovanna Weber, Filippo De Luca, Alessandra Cassio, Study Group for Thyroid Diseases of Italian Society for Pediatric Endocrinology and Diabetology (SIEDP/ISPED), Corrias, A., Mussa, A., Baronio, F., Arrigo, T., Salerno, Mariacarolina, Segni, M., Vigone, M. C., Gastaldi, R., Zirilli, G., Tuli, G., Beccaria, L., Iughetti, L., Einaudi, S., Weber, G., and De Luca, F.

Subjects
Thyroid nodules, Male, medicine.medical_specialty, endocrine system, endocrine system diseases, Adolescent, Pediatric endocrinology, Thyroid function tests, Pediatrics, thyroid, Cohort Studies, cancer, medicine, Carcinoma, Humans, Thyroid nodules, pediatrics,FNAB, Thyroid Nodule, Preschool, Child, Retrospective Studies, medicine.diagnostic_test, business.industry, thyroid nodules, Retrospective cohort study, Nodule (medicine), Child, Preschool, Female, Pediatrics, Perinatology and Child Health, Perinatology and Child Health, medicine.disease, Radiology, Teratoma, Thyroid function, medicine.symptom, business
Abstract

OBJECTIVE: To investigate a cohort of pediatric patients with thyroid nodules, defining histotype frequency and differences between subjects with hyperthyroidism and euthyroidism and benign and malignant nodules. DESIGN: Retrospective cohort. SETTING: Consecutive cases from 9 Italian pediatric endocrinology centers for the last 10 years. Patients One hundred twenty pediatric patients with thyroid nodules. Intervention Doppler ultrasonography was performed in 71 subjects; scintiscan, in 56; fine-needle aspiration biopsy in 104; and 63 underwent surgery. MAIN OUTCOME MEASURES: The differences in clinical, laboratory, and ultrasonographic data between patients with hyperthyroidism and euthyroidism and malignant and benign nodules were evaluated. RESULTS: One hundred fourteen patients had euthyroidism and 6, hyperthyroidism. The latter had more compressive signs (P=.003), greater nodule diameter (P=.02), intranodular vascularization pattern (P=.01), and increased scintiscan uptake (P

Published
2010

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