41 results on '"Rodari G."'
Search Results
2. Final height in growth hormone-deficient childhood cancer survivors after growth hormone therapy
- Author
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Rodari, G., Cattoni, A., and Albanese, A.
- Published
- 2020
- Full Text
- View/download PDF
3. Daylight Quantum Key Distribution in a Free-Space Channel Using Entangled Photons Emitted by a Quantum Dot Device
- Author
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Basset, F. Basso, primary, Valeri, M., additional, Neuwirth, J., additional, Polino, E., additional, Rota, M. B., additional, Poderini, D., additional, Pardo, C., additional, Rodari, G., additional, Roccia, E., additional, da Silva, S. F. Covre, additional, Ronco, G., additional, Spagnolo, N., additional, Rastelli, A., additional, Carvacho, G., additional, Sciarrino, F., additional, and Trotta, R., additional
- Published
- 2023
- Full Text
- View/download PDF
4. Determinants of outcome of transsphenoidal surgery for Cushing disease in a single-centre series
- Author
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Serban, A. L., Del Sindaco, G., Sala, E., Carosi, G., Indirli, R., Rodari, G., Giavoli, C., Locatelli, M., Carrabba, G., Bertani, G., Marfia, G., Mantovani, G., Arosio, M., and Ferrante, E.
- Abstract
Background: First-line therapy of Cushing disease (CD) is transsphenoidal surgery (TSS) aimed to obtain a complete removal of the pituitary adenoma and remission of disease. Purpose: To analyse the surgical outcome of patients with CD who underwent TSS in our Centre. Methods: Retrospective analysis on patients with CD who underwent TSS between 1990 and 2016. Results: We analysed 102 TSS that included: 84 first TSS and 18 second and third TSS. The overall remission rate after surgery was 76.5%, with a significant higher percentage of remitted patients after the first TSS compared to the subsequent TSS (82% vs 50%, p= 0.014). The remission after the first TSS was significantly higher when performed by a dedicated surgical team (DST) (89.8% vs 71% p= 0.04) and when the immunohistochemical examination confirmed the adrenocorticotropic adenoma (87% vs 55%, p= 0.04). Neuroradiological findings influenced the surgical outcome in a non-significant manner. Post-TSS complications were reported in 32 patients, with no significant variation when TSS was performed by DST. In case of reintervention, remission of disease was obtained in 72.7% of microadenoma, while no remitted patients were observed in case of macroadenomas. The DST did not significantly improve the outcome. Conclusion: Cushing disease is characterized by a broad spectrum of neuroradiological presentation. Despite the availability of a DST make the TSS a safe and effective first-line treatment among all these patients, a precise pre-treatment evaluation is needed in order to define the aim of neurosurgery and to schedule the management of recurrent disease.
- Published
- 2024
- Full Text
- View/download PDF
5. Daylight entanglement-based quantum key distribution with a quantum dot source
- Author
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Basso Basset, F, primary, Valeri, M, additional, Neuwirth, J, additional, Polino, E, additional, Rota, M B, additional, Poderini, D, additional, Pardo, C, additional, Rodari, G, additional, Roccia, E, additional, Covre da Silva, S F, additional, Ronco, G, additional, Spagnolo, N, additional, Rastelli, A, additional, Carvacho, G, additional, Sciarrino, F, additional, and Trotta, R, additional
- Published
- 2023
- Full Text
- View/download PDF
6. Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa
- Author
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Rodari, G., Guez, S., Manzoni, F., Chalouhi, K. K., Profka, E., Bergamaschi, S., Salera, S., Tadini, G., Ulivieri, F. M., Spada, A., Giavoli, C., and Esposito, S.
- Published
- 2017
- Full Text
- View/download PDF
7. Recurrence of hyperprolactinemia following dopamine agonist withdrawal and possible predictive factors of recurrence in prolactinomas
- Author
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Sala, E., Bellaviti Buttoni, P., Malchiodi, E., Verrua, E., Carosi, G., Profka, E., Rodari, G., Filopanti, M., Ferrante, E., Spada, A., and Mantovani, G.
- Published
- 2016
- Full Text
- View/download PDF
8. Final height in growth hormone-deficient childhood cancer survivors after growth hormone therapy
- Author
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Rodari, G, Cattoni, A, Albanese, A, Rodari G., Cattoni A., Albanese A., Rodari, G, Cattoni, A, Albanese, A, Rodari G., Cattoni A., and Albanese A.
- Abstract
Purpose: Growth hormone deficiency (GHD) is the most prevalent hypothalamic–pituitary (HP) disorder found in childhood cancer survivors (CCS). The published studies assessing GHD in CCS concluded that recombinant human GH (rhGH) does not restore final height (FH) to that predicted from mid-parental height (MPH). Thus, wider analyses on final height outcomes after rhGH in CCS are needed. Methods: Retrospective study on final height (FH) in 87 CCS treated with rhGH. Patients were divided into: Group A (n =48) who underwent cranial radiotherapy or had non-irradiated tumours of HP area, and B (n =39) who were treated with craniospinal or total body irradiation (TBI). 19/87 patients with central precocious/early puberty also received GnRH analogues. Results: Height (HT) gain after 1 and 2 years of rhGH was 0.38 ± 0.35 SDS and 0.18 ± 0.30 SDS, respectively (P < 0.0001); mean FH was in the normal range (− 0.85 ± 1.34 SDS), though not significantly different from HT SDS at baseline. 67% overall failed to reach MPH especially in Group B (P < 0.0001). However, height loss (HT SDS-MPH SDS) at FH improved or remained stable compared to baseline in 26/45 patients (58%). On stepwise regression analysis, major determinants of FH were HT at baseline (P < 0.0001) and delay before start of rhGH (P = 0.012). There was no significant difference in FH when GnRHa was added to rhGH. Conclusion: rhGH and GnRH analogues therapy, when indicated, though failing to induce catch-up growth, prevented further height loss leading to a FH within the normal range but still below MPH, this latter being statistically significant in children who received craniospinal and TBI.
- Published
- 2020
9. Determinants of outcome of transsphenoidal surgery for Cushing disease in a single-centre series
- Author
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Serban, A, Del Sindaco, G, Sala, E, Carosi, G, Indirli, R, Rodari, G, Giavoli, C, Locatelli, M, Carrabba, G, Bertani, G, Marfia, G, Mantovani, G, Arosio, M, Ferrante, E, Serban A. L., Del Sindaco G., Sala E., Carosi G., Indirli R., Rodari G., Giavoli C., Locatelli M., Carrabba G., Bertani G., Marfia G., Mantovani G., Arosio M., Ferrante E., Serban, A, Del Sindaco, G, Sala, E, Carosi, G, Indirli, R, Rodari, G, Giavoli, C, Locatelli, M, Carrabba, G, Bertani, G, Marfia, G, Mantovani, G, Arosio, M, Ferrante, E, Serban A. L., Del Sindaco G., Sala E., Carosi G., Indirli R., Rodari G., Giavoli C., Locatelli M., Carrabba G., Bertani G., Marfia G., Mantovani G., Arosio M., and Ferrante E.
- Abstract
Background: First-line therapy of Cushing disease (CD) is transsphenoidal surgery (TSS) aimed to obtain a complete removal of the pituitary adenoma and remission of disease. Purpose: To analyse the surgical outcome of patients with CD who underwent TSS in our Centre. Methods: Retrospective analysis on patients with CD who underwent TSS between 1990 and 2016. Results: We analysed 102 TSS that included: 84 first TSS and 18 second and third TSS. The overall remission rate after surgery was 76.5%, with a significant higher percentage of remitted patients after the first TSS compared to the subsequent TSS (82% vs 50%, p = 0.014). The remission after the first TSS was significantly higher when performed by a dedicated surgical team (DST) (89.8% vs 71% p = 0.04) and when the immunohistochemical examination confirmed the adrenocorticotropic adenoma (87% vs 55%, p = 0.04). Neuroradiological findings influenced the surgical outcome in a non-significant manner. Post-TSS complications were reported in 32 patients, with no significant variation when TSS was performed by DST. In case of reintervention, remission of disease was obtained in 72.7% of microadenoma, while no remitted patients were observed in case of macroadenomas. The DST did not significantly improve the outcome. Conclusion: Cushing disease is characterized by a broad spectrum of neuroradiological presentation. Despite the availability of a DST make the TSS a safe and effective first-line treatment among all these patients, a precise pre-treatment evaluation is needed in order to define the aim of neurosurgery and to schedule the management of recurrent disease.
- Published
- 2020
10. Analysis of short- and long-term metabolic effects of growth hormone replacement therapy in adult patients with craniopharyngioma and non-functioning pituitary adenoma
- Author
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Profka, E., Giavoli, C., Bergamaschi, S., Ferrante, E., Malchiodi, E., Sala, E., Verrua, E., Rodari, G., Filopanti, M., Beck-Peccoz, P., and Spada, A.
- Published
- 2015
- Full Text
- View/download PDF
11. Determinants of outcome of transsphenoidal surgery for Cushing disease in a single-centre series
- Author
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Serban, A. L., primary, Del Sindaco, G., additional, Sala, E., additional, Carosi, G., additional, Indirli, R., additional, Rodari, G., additional, Giavoli, C., additional, Locatelli, M., additional, Carrabba, G., additional, Bertani, G., additional, Marfia, G., additional, Mantovani, G., additional, Arosio, M., additional, and Ferrante, E., additional
- Published
- 2019
- Full Text
- View/download PDF
12. Final height in growth hormone-deficient childhood cancer survivors after growth hormone therapy
- Author
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Rodari, G., primary, Cattoni, A., additional, and Albanese, A., additional
- Published
- 2019
- Full Text
- View/download PDF
13. Unsaturated Soil Mechanics in Mining
- Author
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Oldecop, L. A., primary and Rodari, G., additional
- Published
- 2018
- Full Text
- View/download PDF
14. Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa
- Author
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Rodari, G., primary, Guez, S., additional, Manzoni, F., additional, Chalouhi, K. K., additional, Profka, E., additional, Bergamaschi, S., additional, Salera, S., additional, Tadini, G., additional, Ulivieri, F. M., additional, Spada, A., additional, Giavoli, C., additional, and Esposito, S., additional
- Published
- 2016
- Full Text
- View/download PDF
15. Analysis of short- and long-term metabolic effects of growth hormone replacement therapy in adult patients with craniopharyngioma and non-functioning pituitary adenoma
- Author
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Profka, E., primary, Giavoli, C., additional, Bergamaschi, S., additional, Ferrante, E., additional, Malchiodi, E., additional, Sala, E., additional, Verrua, E., additional, Rodari, G., additional, Filopanti, M., additional, Beck-Peccoz, P., additional, and Spada, A., additional
- Published
- 2014
- Full Text
- View/download PDF
16. A MASS PRODUCTION OF THICK-FILM CAR VOLTAGE REGULATORS.
- Author
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BIANCHI, D. A., FARAVELLI, P., and RODARI, G. S.
- Published
- 1978
17. A Mass Production of Thick-Film Car Voltage Regulators
- Author
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Bianchi, D. A., primary, Faravelli, P., additional, and Rodari, G. S., additional
- Published
- 1978
- Full Text
- View/download PDF
18. A Mass Production of Thick-Film Car Voltage Regulators
- Author
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A. Bianchi, D., Faravelli, P., and S. Rodari, G.
- Abstract
The technological solutions chosen for a car-voltage regulator now in mass production (thick-film hybrid with standard encapsulated active devices) are discussed from the point of view of functional performance, producibility and reliability.
- Published
- 1978
- Full Text
- View/download PDF
19. Towards an individualized management of pubertal induction in girls with hypogonadism: insight into the best replacement outcomes from a large multicentre registry
- Author
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Giulia Rodari, Silvia Federici, Tommaso Todisco, Graziamaria Ubertini, Alessandro Cattoni, Marta Pagano, Federico Giacchetti, Eriselda Profka, Valeria Citterio, Dario Messetti, Valentina Collini, Davide Soranna, Erika Carbone, Maura Arosio, Giovanna Mantovani, Luca Persani, Marco Cappa, Marco Bonomi, Claudia Giavoli, Rodari, G, Federici, S, Todisco, T, Ubertini, G, Cattoni, A, Pagano, M, Giacchetti, F, Profka, E, Citterio, V, Messetti, D, Collini, V, Soranna, D, Carbone, E, Arosio, M, Mantovani, G, Persani, L, Cappa, M, Bonomi, M, and Giavoli, C
- Subjects
hormone replacement therapy ,puberty ,Endocrinology ,cancer survivor ,Endocrinology, Diabetes and Metabolism ,Pubertal induction ,estrogen ,hypogonadism ,General Medicine ,progesterone - Abstract
Objective An evidence-based pubertal induction scheme in hypogonadal girls is still to be established. Interestingly, literature data reports suboptimal uterine longitudinal diameter (ULD) in >50% of treated hypogonadal women, negatively influencing their pregnancy outcomes. This study aims to investigate auxological and uterine outcomes of pubertal induction in girls in the light of underlying diagnosis and therapeutic schemes used. Design Retrospective analysis of longitudinal data from a multicentric registry. Methods Auxological, biochemical and radiological data were collected at baseline and during follow-up in 95 hypogonadal girls (chronological age>10.9 years, Tanner stage≤2) treated with transdermal 17β-oestradiol patches for at least one year. Induction was started at a median dose of 0.14 mcg/kg/day with a six-monthly increase and was considered completed for 49/95 patients who started progesterone with concomitant oestrogen adult dose. Results At the end of induction, the achievement of the complete breast maturation was associated with 17β-oestradiol dose at progesterone introduction. ULD showed a significant correlation with 17β-oestradiol dosage. Final ULD was>65 mm in only 17/45 girls. At multiple regression analysis, pelvic irradiation represented the major determinant of reduced final ULD. After correction for uterine irradiation, ULD was associated with the 17β-oestradiol dose at progesterone introduction. Final ULD was not significantly different from the one assessed after progesterone introduction. Conclusions Our results provide evidence that progestins, hampering further changes in uterine volume and breast development, should be introduced only in the presence of a concomitant adequate 17β-oestradiol dose and an appropriate clinical response.
- Published
- 2023
- Full Text
- View/download PDF
20. Final height in growth hormone-deficient childhood cancer survivors after growth hormone therapy
- Author
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Giulia Rodari, Assunta Albanese, Alessandro Cattoni, Rodari, G, Cattoni, A, and Albanese, A
- Subjects
Male ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Childhood cancer ,030209 endocrinology & metabolism ,Growth hormone ,Gastroenterology ,Group B ,Growth hormone deficiency ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Endocrinology ,Cancer Survivors ,Final height ,Retrospective Studie ,Internal medicine ,GnRH analogue ,Humans ,Medicine ,Sexual Maturation ,Young adult ,Child ,Dwarfism, Pituitary ,Retrospective Studies ,Human Growth Hormone ,business.industry ,Infant ,Retrospective cohort study ,Total body irradiation ,medicine.disease ,Body Height ,030220 oncology & carcinogenesis ,Child, Preschool ,Cancer survivor ,Female ,business ,Human - Abstract
Purpose: Growth hormone deficiency (GHD) is the most prevalent hypothalamic–pituitary (HP) disorder found in childhood cancer survivors (CCS). The published studies assessing GHD in CCS concluded that recombinant human GH (rhGH) does not restore final height (FH) to that predicted from mid-parental height (MPH). Thus, wider analyses on final height outcomes after rhGH in CCS are needed. Methods: Retrospective study on final height (FH) in 87 CCS treated with rhGH. Patients were divided into: Group A (n =48) who underwent cranial radiotherapy or had non-irradiated tumours of HP area, and B (n =39) who were treated with craniospinal or total body irradiation (TBI). 19/87 patients with central precocious/early puberty also received GnRH analogues. Results: Height (HT) gain after 1 and 2years of rhGH was 0.38 ± 0.35SDS and 0.18 ± 0.30SDS, respectively (P < 0.0001); mean FH was in the normal range (− 0.85 ± 1.34SDS), though not significantly different from HT SDS at baseline. 67% overall failed to reach MPH especially in Group B (P < 0.0001). However, height loss (HT SDS-MPH SDS) at FH improved or remained stable compared to baseline in 26/45 patients (58%). On stepwise regression analysis, major determinants of FH were HT at baseline (P < 0.0001) and delay before start of rhGH (P = 0.012). There was no significant difference in FH when GnRHa was added to rhGH. Conclusion: rhGH and GnRH analogues therapy, when indicated, though failing to induce catch-up growth, prevented further height loss leading to a FH within the normal range but still below MPH, this latter being statistically significant in children who received craniospinal and TBI.
- Published
- 2020
21. Polarization-encoded photonic quantum-to-quantum Bernoulli factory based on a quantum dot source.
- Author
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Rodari G, Hoch F, Suprano A, Giordani T, Negro E, Carvacho G, Spagnolo N, Galvão EF, and Sciarrino F
- Abstract
A Bernoulli factory is a randomness manipulation routine that takes as input a Bernoulli random variable, outputting another Bernoulli variable whose bias is a function of the input bias. Recently proposed quantum-to-quantum Bernoulli factory schemes encode both input and output variables in qubit amplitudes. This primitive could be used as a subroutine for more complex quantum algorithms involving Bayesian inference and Monte Carlo methods. Here, we report an experimental implementation of a polarization-encoded photonic quantum-to-quantum Bernoulli factory. We present and test three interferometric setups implementing the basic operations of an algebraic field (inversion, multiplication, and addition), which, chained together, allow for the implementation of a generic quantum-to-quantum Bernoulli factory. These in-bulk schemes are validated using a quantum dot-based single-photon source featuring high brightness and indistinguishability, paired with a time-to-spatial demultiplexing setup to prepare input resources of up to three single-photon states.
- Published
- 2024
- Full Text
- View/download PDF
22. Pelvic ultrasound and pubertal attainment in girls with sexual precocity: the pivotal role of uterine volume in predicting the timing of menarche.
- Author
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Cattoni A, Russo G, Capitoli G, Rodari G, Nicolosi ML, Molinari S, Tondelli D, Pelliccia C, Radaelli S, Arosio AML, Fontana K, Tattesi G, Passoni P, Boneschi A, Giavoli C, Meroni SLC, Stancampiano MR, Garuti E, Biondi A, Balduzzi A, and Bizzarri C
- Subjects
- Humans, Female, Child, Retrospective Studies, Pelvis diagnostic imaging, Puberty physiology, Organ Size, Adolescent, Menarche physiology, Ultrasonography methods, Puberty, Precocious diagnostic imaging, Uterus diagnostic imaging
- Abstract
Introduction: Among girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (T
US-M ). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and TUS-M , in order to identify the most reliable predictor of the timing of menarche., Methods: Retrospective, multicenter analysis. Girls assessed for sexual precocity and showing sonographic and clinical findings consistent with pubertal onset upon referral were considered eligible. Patients treated with GnRH analogues were excluded and only those who had subsequently achieved complete and spontaneous pubertal attainment and for whom the exact date of menarche was available were included. Overall, we enrolled 184 girls from five tertiary care Italian Centers., Results: The time elapsed (months) between baseline endocrine assessment and spontaneous achievement of menarche showed a negative statistically significant correlation ( p <0.0001) with LH (r:-0.61), FSH (r:-0.59), estradiol (r:-0.52) and stimulated LH values (r:-0.58). Among pUS parameters, ovarian volume (r:-0.17 left, -0.30 right) and uterine body-to-cervix ratio (r:-0.18) poorly correlated with TUS-M , while uterine diameters (r:-0.61 longitudinal, -0.64 anteroposterior) and volume (r:-0.70) achieved a highly statistical significance ( p <0.0001). Uterine volume (UV) showed a negative logarithmic relationship with TUS-M and represented the most reliable predictor of the timing of menarche in uni- and multivariable analyses ( p < 0.001). ROC analyses identified the UV thresholds that best predict the onset of menarche within 18, 12 and 6 months, respectively: 3.76, 6.02 and 8.80 ml., Conclusion: The logarithm of UV shows the best statistical performance in predicting the timing of menarche in girls assessed for pubertal precocity. Accordingly, we developed a user-friendly online application that provides clinicians with an estimation of the months expected to elapse before menarche, based on the UV recorded upon pUS., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Cattoni, Russo, Capitoli, Rodari, Nicolosi, Molinari, Tondelli, Pelliccia, Radaelli, Arosio, Fontana, Tattesi, Passoni, Boneschi, Giavoli, Meroni, Stancampiano, Garuti, Biondi, Balduzzi and Bizzarri.)- Published
- 2024
- Full Text
- View/download PDF
23. Estimation of the reference values and decision limits for growth hormone in newborns using dried blood spots.
- Author
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Vidali M, Giacchetti F, Sangiorgio A, Vantaggiato C, Rodari G, Orsenigo C, Di Modugno A, Napolitano F, Morniroli D, Colombo L, Profka E, Vizzari G, Mosca F, Ceriotti F, Mantovani G, Arosio M, Giannì ML, and Giavoli C
- Subjects
- Infant, Newborn, Humans, Reference Values, Birth Weight, Enzyme-Linked Immunosorbent Assay, Insulin-Like Growth Factor I analysis, Growth Hormone, Human Growth Hormone
- Abstract
Objectives: Severe deficiency of growth hormone (GHD) of the newborn is a rare but potentially life-threatening disease. GH measured during the first week of life, using dried blood spots (DBS), may offer several advantages. Aim of the study was to estimate the reference values for GH in newborns by a new analytical method using DBS., Methods: Using a new developed analytical method, GH was estimated from DBS of 1,036 healthy newborns attending the Neonatology Unit of Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico of Milan in the period July-October 2021. Reference values for GH deficiency were estimated by the Harrell-Davis bootstrap method, with 90 %CI calculated by the bias-corrected and accelerated bootstrap method., Results: All GH measurements required 33 analytical sessions (8 months) with a CV% for calibration curve slopes equal to 6.9 %. Intermediate precision evaluated by measurement of low (3 μg/L) and high (10 μg/L) quality controls was, respectively, 14 and 6.5 %. GH reference values, estimated at percentiles 1.0st, 2.5th and 5.0th, and their 90 %CI, were, respectively, 4.5 μg/L (90 %CI 3.8-5.1), 5.9 μg/L (90 %CI 5.4-6.4) and 7.0 μg/L (90 %CI 6.7-7.3). GH levels were not associated with sex, standard deviation scores, birth weight, gestational age, type of delivery or mother's variables (age, smoking habit, gestational diabetes)., Conclusions: Validation data suggest that this method can be used to measured GH in newborns using DBS. The reference values estimated in this study are in accordance with previous published works using ELISA and may help confirming the clinical suspicion of neonatal GHD., (© 2023 Walter de Gruyter GmbH, Berlin/Boston.)
- Published
- 2023
- Full Text
- View/download PDF
24. Towards an individualized management of pubertal induction in girls with hypogonadism: insight into the best replacement outcomes from a large multicentre registry.
- Author
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Rodari G, Federici S, Todisco T, Ubertini G, Cattoni A, Pagano M, Giacchetti F, Profka E, Citterio V, Messetti D, Collini V, Soranna D, Carbone E, Arosio M, Mantovani G, Persani L, Cappa M, Bonomi M, and Giavoli C
- Subjects
- Adult, Female, Humans, Child, Retrospective Studies, Puberty physiology, Estradiol therapeutic use, Progesterone therapeutic use, Hypogonadism drug therapy
- Abstract
Objective: An evidence-based pubertal induction scheme in hypogonadal girls is still to be established. Interestingly, literature data report a suboptimal uterine longitudinal diameter (ULD) in >50% of treated hypogonadal women, negatively influencing their pregnancy outcomes. This study aims to investigate auxological and uterine outcomes of pubertal induction in girls in the light of underlying diagnosis and therapeutic schemes used., Design: Retrospective analysis of longitudinal data from a multicentric registry., Methods: Auxological, biochemical, and radiological data were collected at baseline and during follow-up in 95 hypogonadal girls (chronological age > 10.9 years, Tanner stage ≤ 2) treated with transdermal 17β-oestradiol patches for at least 1 year. Induction was started at a median dose of 0.14 mcg/kg/day with a 6-monthly increase and was considered completed for 49/95 patients who started progesterone with a concomitant oestrogen adult dose., Results: At the end of induction, the achievement of the complete breast maturation was associated with a 17β-oestradiol dose at progesterone introduction. ULD showed a significant correlation with a 17β-oestradiol dosage. Final ULD was >65 mm in only 17/45 girls. At multiple regression analysis, pelvic irradiation represented the major determinant of reduced final ULD. After correction for uterine irradiation, ULD was associated with the 17β-oestradiol dose at progesterone introduction. Final ULD was not significantly different from the one assessed after progesterone introduction., Conclusions: Our results provide evidence that progestins, hampering further changes in uterine volume and breast development, should be introduced only in the presence of a concomitant adequate 17β-oestradiol dose and an appropriate clinical response., Competing Interests: Conflicts of interest: The authors have no conflict of interest to declare., (© The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2023
- Full Text
- View/download PDF
25. Experimental nonclassicality in a causal network without assuming freedom of choice.
- Author
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Polino E, Poderini D, Rodari G, Agresti I, Suprano A, Carvacho G, Wolfe E, Canabarro A, Moreno G, Milani G, Spekkens RW, Chaves R, and Sciarrino F
- Abstract
In a Bell experiment, it is natural to seek a causal account of correlations wherein only a common cause acts on the outcomes. For this causal structure, Bell inequality violations can be explained only if causal dependencies are modeled as intrinsically quantum. There also exists a vast landscape of causal structures beyond Bell that can witness nonclassicality, in some cases without even requiring free external inputs. Here, we undertake a photonic experiment realizing one such example: the triangle causal network, consisting of three measurement stations pairwise connected by common causes and no external inputs. To demonstrate the nonclassicality of the data, we adapt and improve three known techniques: (i) a machine-learning-based heuristic test, (ii) a data-seeded inflation technique generating polynomial Bell-type inequalities and (iii) entropic inequalities. The demonstrated experimental and data analysis tools are broadly applicable paving the way for future networks of growing complexity., (© 2023. The Author(s).)
- Published
- 2023
- Full Text
- View/download PDF
26. Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.
- Author
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Rodari G, Villa R, Porro M, Gangi S, Iascone M, Elli F, Giacchetti F, Profka E, Collini V, Dall'Antonia A, Arosio M, Mantovani G, Bedeschi MF, and Giavoli C
- Subjects
- Female, Humans, Pregnancy, Body Height, Fetal Growth Retardation, Growth Hormone genetics, Mutation, Protein-Arginine N-Methyltransferases genetics, Dwarfism, Pituitary, Hypopituitarism, Intellectual Disability genetics
- Abstract
Protein arginine methyltransferase 7 (PRMT7) pathogenetic variants have been associated with the human disorder of Short Stature, Brachydactyly, Intellectual Developmental Disability and Seizures syndrome (SBIDDS). Only 15 cases have been described in the literature. Here we report two female dizygotic twins with novel compound heterozygous deleterious variants of PRMT7 and describe the associated endocrine manifestations and short-term response to recombinant growth hormone (rGH) treatment. They were born at 36 + 3 weeks from a dichorionic diamniotic twin pregnancy. Twin A was appropriate for gestational age while Twin B was small for gestational age. Whole exome sequencing analyses showed the same novel compound heterozygous genetic defects in the PRMT7 gene (c.1220 G > A of maternal origin; c.1323 + 2 T > G of paternal origin, Fig. 1). Due to severe short stature and growth impairment, at six years of age, endocrine investigations were performed to rule out growth hormone (GH) deficiency, and revealed GH deficiency (GHD) in Twin A and an appropriate GH response in Twin B. Therefore, both started rGH, albeit at different dosages according to the underlying diagnosis. Both showed a satisfactory short-term response to treatment with height gain (∆HT) of +0.52 SDS (Twin A) and +0.88 SDS (Twin B) during the first year. In conclusion, our findings expand the knowledge about the endocrine manifestations associated with PRMT7 pathogenetic variants, including GH deficiency and rGH response. Further studies are needed to investigate long-term outcomes and establish whether PRMT7 genetic defects can be included among syndromic short stature treatable with rGH., (© 2022. The Author(s), under exclusive licence to European Society of Human Genetics.)
- Published
- 2023
- Full Text
- View/download PDF
27. A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa.
- Author
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Rodari G, Guez S, Salera S, Ulivieri FM, Tadini G, Brena M, Profka E, Giacchetti F, Arosio M, and Giavoli C
- Subjects
- Adult, Bone Density, Cancellous Bone, Female, Humans, Male, Epidermolysis Bullosa complications, Epidermolysis Bullosa Dystrophica, Puberty, Delayed complications
- Abstract
Background: Delayed puberty is a possible complication of Epidermolysis Bullosa (EB), though the actual incidence is still unknown. In chronic illnesses delayed puberty should be correctly managed since, if untreated, can have detrimental effects on adult height attainment, peak bone mass achievement and psychological health., Aims and Methods: This is a single-centre study on pubertal development, growth and bone status in EB. Auxological, densitometric (areal Bone Mineral Density-aBMD Z-score, Bone Mineral Apparent Density-BMAD Z-score, Trabecular Bone Score-TBS and Bone Strain Index-BSI at Lumbar spine) and body composition data (Total Body DXA scans) were collected. Disease severity was defined according to Birmingham Epidermolysis Bullosa Severity (BEBS) score., Results: Twenty-one patients (12 Recessive Dystrophic EB-RDEB, 3 Dominant Dystrophic EB, 3 Junctional EB-JEB, 2 EB Simplex and one Kindler EB) aged 13 years (females) or 14 years (males) and above were enrolled (age 16.2±2.5 years, M/F 11/10). Short stature was highly prevalent (57%, mean height -2.12±2.05 SDS) with 55% patients with height <-2SD their mid-parental height. 7/21 patients (33%, 6 RDEB and 1 JEB) had delayed puberty with a median BEBS of 50 (range 29 to 63), a height SDS of -2.59 SDS (range -5.95 to -2.22) and a median lumbar BMAD Z-score of -4.0 SDS (range -5.42 to -0.63 SDS). Pubertal status was negatively associated with BEBS, skin involvement, inflammatory state and positively with height SDS and BMI SDS., Conclusions: Pubertal delay is highly prevalent in EB, especially in patients with RDEB and JEB, high severity score and inflammatory state. Moreover, pubertal delay worsens growth impairment and bone health. A study on pubertal induction is ongoing to enlighten possible beneficial effects on adult height attainment and peak bone mass accrual., Competing Interests: The authors have no competing interest to declare.
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- 2022
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28. Effect of Vitamin D and Docosahexaenoic Acid Co-Supplementation on Vitamin D Status, Body Composition, and Metabolic Markers in Obese Children: A Randomized, Double Blind, Controlled Study.
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De Cosmi V, Mazzocchi A, D'Oria V, Re A, Spolidoro GCI, Milani GP, Berti C, Scaglioni S, Giavoli C, Bergamaschi S, Rodari G, Profka E, Colombo R, and Agostoni C
- Subjects
- Body Composition, Child, Cholecalciferol, Dietary Supplements, Docosahexaenoic Acids, Double-Blind Method, Humans, Vitamin D therapeutic use, Vitamins therapeutic use, Pediatric Obesity complications, Vitamin D Deficiency complications, Vitamin D Deficiency drug therapy
- Abstract
Obese children are at high risk of developing vitamin D deficiency. Omega-3 polyunsaturated fatty acids and their derivatives might have a beneficial effect on vitamin D status of obese children, due to their anti-inflammatory action, and increasing its absorption. This multicenter, randomized, double-blind controlled study aims to investigate the effect of vitamin D and docosahexaenoic acid (DHA) co-supplementation for six months on vitamin D status, body composition, and metabolic markers of obese children with vitamin D deficiency. A total of 108 children were enrolled and 73 children completed the study: 33 were supplemented with an oral dose of 500 mg of DHA and 1200 IU/day of vitamin D3 and 41 were supplemented with 1200 IU/day of vitamin D3 + wheat germ oil. At the end of the study, more than 50% of the subjects improved their vitamin D status. However, co-supplementation was not more effective than vitamin D plus wheat germ oil. Fat mass percentage was significantly reduced, and body mass index improved in both groups, even if all the subjects were still obese at the end of the study. Children receiving both vitamin D and DHA presented a higher increase of DHA levels that could be relevant to prevent inflammatory-associated complications of obesity, but they had no effect on vitamin D levels.
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- 2022
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29. GH Deficiency and Replacement Therapy in Hypopituitarism: Insight Into the Relationships With Other Hypothalamic-Pituitary Axes.
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Profka E, Rodari G, Giacchetti F, and Giavoli C
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- Humans, Hypogonadism diagnosis, Hypopituitarism diagnosis, Hormone Replacement Therapy, Human Growth Hormone deficiency, Human Growth Hormone therapeutic use, Hypopituitarism drug therapy
- Abstract
GH deficiency (GHD) in adult patients is a complex condition, mainly due to organic lesion of hypothalamic-pituitary region and often associated with multiple pituitary hormone deficiencies (MPHD). The relationships between the GH/IGF-I system and other hypothalamic-pituitary axes are complicated and not yet fully clarified. Many reports have shown a bidirectional interplay both at a central and at a peripheral level. Signs and symptoms of other pituitary deficiencies often overlap and confuse with those due to GH deficiency. Furthermore, a condition of untreated GHD may mask concomitant pituitary deficiencies, mainly central hypothyroidism and hypoadrenalism. In this setting, the diagnosis could be delayed and possible only after recombinant human Growth Hormone (rhGH) replacement. Since inappropriate replacement of other pituitary hormones may exacerbate many manifestations of GHD, a correct diagnosis is crucial. This paper will focus on the main studies aimed to clarify the effects of GHD and rhGH replacement on other pituitary axes. Elucidating the possible contexts in which GHD may develop and examining the proposed mechanisms at the basis of interactions between the GH/IGF-I system and other axes, we will focus on the importance of a correct diagnosis to avoid possible pitfalls., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The handling editor declared a shared affiliation with the authors at time of review., (Copyright © 2021 Profka, Rodari, Giacchetti and Giavoli.)
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- 2021
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30. Influence of biochemical diagnosis of growth hormone deficiency on replacement therapy response and retesting results at adult height.
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Rodari G, Profka E, Giacchetti F, Cavenaghi I, Arosio M, and Giavoli C
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- Adolescent, Child, Child, Preschool, Female, Human Growth Hormone blood, Human Growth Hormone deficiency, Humans, Infant, Insulin-Like Growth Factor I analysis, Male, Retrospective Studies, Treatment Outcome, Young Adult, Body Height drug effects, Dwarfism, Pituitary diagnosis, Dwarfism, Pituitary drug therapy, Growth Hormone therapeutic use
- Abstract
Isolated growth hormone deficiency (IGHD) is the most frequent endocrinological disorder in children with short stature, however the diagnosis is still controversial due to the scarcity of reliable diagnostic criteria and pre-treatment predictive factors of long term-response. To evaluate recombinant growth hormone (rGH) long-term response and retesting results in three different groups of children divided in accordance with the biochemical criteria of initial diagnosis. Height gain (∆HT) at adult height (AH) and retesting results were evaluated in 57 rGH treated children (M = 34, 59.6%) divided into 3 groups according to initial diagnosis: Group A (n = 25) with max GH peak at stimulation test < 8 µg/L, Group B (n = 19) between 8 and 10 µg/L and Group C (n = 13) with mean overnight GH < 3 µg/L (neurosecretory dysfunction, NSD). Retesting was carried out in all patients after at least one month off therapy upon reaching the AH. 40/57 (70.2%) patients were pre-pubertal at diagnosis and showed ∆HT of 1.37 ± 1.00 SDS, with no significant differences between groups (P = 0.08). Nonetheless, 46% patients in Group B showed ∆HT < 1SDS (vs 13% and 12% in Group A and C, respectively) and 25% children failed to reach mid-parental height (vs 6% and 0% in Group A and C, respectively). At AH attainment, IGHD was reconfirmed in 28% (7/25) and 10% (2/19) in Group A and B, respectively. A reduction of diagnostic cut-off at GH stimulation tests could better discriminate between "good" and "poor responders" and predict the persistence of IGHD through transition. Group C response and the predictive value of baseline IGF-I SDS bring back to light NSD: should we consider an underlying hypothalamic derangement when the clinical presentation is strongly consistent with IGHD but pharmacological stimulation test is normal?, (© 2021. The Author(s).)
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- 2021
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31. Adrenal Insufficiency at the Time of COVID-19: A Retrospective Study in Patients Referring to a Tertiary Center.
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Carosi G, Morelli V, Del Sindaco G, Serban AL, Cremaschi A, Frigerio S, Rodari G, Profka E, Indirli R, Mungari R, Resi V, Orsi E, Ferrante E, Dolci A, Giavoli C, Arosio M, and Mantovani G
- Subjects
- Adrenal Insufficiency complications, Adrenal Insufficiency diagnosis, Adrenal Insufficiency therapy, Adult, Aged, Aged, 80 and over, COVID-19 diagnosis, COVID-19 therapy, Case-Control Studies, Female, Humans, Hypopituitarism complications, Hypopituitarism diagnosis, Hypopituitarism epidemiology, Hypopituitarism therapy, Incidence, Italy epidemiology, Male, Middle Aged, Referral and Consultation statistics & numerical data, Retrospective Studies, Risk Factors, SARS-CoV-2 physiology, Severity of Illness Index, Tertiary Care Centers statistics & numerical data, Young Adult, Adrenal Insufficiency epidemiology, COVID-19 complications, COVID-19 epidemiology
- Abstract
Context: Coronavirus disease 2019 (COVID-19) represents a global health emergency, and infected patients with chronic diseases often present with a severe impairment. Adrenal insufficiency (AI) is supposed to be associated with an increased infection risk, which could trigger an adrenal crisis., Objective: Our primary aim was to evaluate the incidence of COVID-19 symptoms and complications in AI patients., Design and Setting: We conducted a retrospective case-control study. All patients were on active follow-up and lived in Lombardy, Italy, one of the most affected areas., Patients: We enrolled 279 patients with primary and secondary AI and 112 controls (patients with benign pituitary lesions without hormonal alterations). All AI patients had been previously trained to modify their replacement therapy on stress doses., Intervention: By administering a standardized questionnaire by phone, we collected data on COVID-19 suggestive symptoms and consequences., Results: In February through April 2020, the prevalence of symptomatic patients (complaining at least 1 symptom of viral infection) was similar between the 2 groups (24% in AI and 22.3% in controls, P = 0.79). Highly suggestive COVID-19 symptoms (at least 2 including fever and/or cough) also occurred equally in AI and controls (12.5% in both groups). No patient required hospitalization and no adrenal crisis was reported. Few nasopharyngeal swabs were performed (n = 12), as indicated by sanitary regulations, limiting conclusions on the exact infection rate (2 positive results in AI and none in controls, P = 0.52)., Conclusions: AI patients who are adequately treated and trained seem to display the same incidence of COVID-19-suggestive symptoms and disease severity as controls., (© The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society.)
- Published
- 2021
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32. Case Report: Late-Onset Congenital Adrenal Hyperplasia and Acute Covid-19 Infection in a Pregnant Woman: Multidisciplinary Management.
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Giavoli C, Iurlaro E, Morelli V, Rodari G, Ronchi A, Pietrasanta C, Pugni L, Tubiolo D, Properzi P, Pesenti A, Mantovani G, Ferrazzi E, and Arosio M
- Subjects
- Adrenal Hyperplasia, Congenital epidemiology, Adrenal Hyperplasia, Congenital virology, Adult, Age of Onset, COVID-19 transmission, COVID-19 virology, Cesarean Section, Female, Humans, Infant, Newborn, Pregnancy, Pregnancy Complications, Infectious virology, Pregnant Women, Prognosis, Adrenal Hyperplasia, Congenital complications, COVID-19 complications, Pregnancy Complications, Infectious epidemiology, SARS-CoV-2 isolation & purification
- Abstract
Background: The impact of the Covid-19 infection on patients with chronic endocrine disease is not fully known. We describe here the first case of a pregnant woman with Covid-19 acute infection and non-classical congenital adrenal hyperplasia (NCAH)., Case Description: A woman at 36 weeks of gestation was referred to our Maternity Hospital for premature rupture of membranes (PROM). Her medical history was positive for NCAH on chronic steroid replacement till the age of 17 years (cortisone acetate and dexamethasone, both in the morning). At admission, her naso-oro-pharyngeal swab resulted positive for SARS-CoV-2. Due to hyperpyrexia and late preterm PROM, cesarean section was planned, and she was started on a 100 mg-bolus of hydrocortisone, followed by continuous infusion of 200 mg/24 h. A female neonate in good clinical condition and with a negative nasopharyngeal Covid-19 swab was delivered. On second postpartum day, the mother was in good condition and was switched to oral steroid therapy. On third postpartum day she worsened, with radiological signs of acute pulmonary embolism. Oro-tracheal intubation and mechanical ventilation were started, and she was switched back to intravenous steroid therapy. On April 30, pulmonary embolism was resolved, and on May 13th she was discharged in good condition., Conclusions: We report the first case of Covid-19 acute infection that occurred in late-pregnancy in a woman with NCAH on chronic steroid replacement. The management of the patient in a reference center with early involvement of a multidisciplinary team granted prompt care and adequate protection for all the involved sanitary operators., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Giavoli, Iurlaro, Morelli, Rodari, Ronchi, Pietrasanta, Pugni, Tubiolo, Properzi, Pesenti, Mantovani, Ferrazzi and Arosio.)
- Published
- 2021
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33. Growth hormone therapy at the time of Covid-19 pandemic: adherence and drug supply issues.
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Giavoli C, Profka E, Giancola N, Rodari G, Giacchetti F, Ferrante E, Arosio M, and Mantovani G
- Subjects
- Adolescent, Adult, Aged, Betacoronavirus, COVID-19, Child, Child, Preschool, Coronavirus Infections epidemiology, Female, Human Growth Hormone supply & distribution, Humans, Infant, Italy epidemiology, Male, Middle Aged, Pandemics, Pneumonia, Viral epidemiology, SARS-CoV-2, Young Adult, Growth Hormone deficiency, Hormone Replacement Therapy, Human Growth Hormone therapeutic use, Hypopituitarism drug therapy, Medication Adherence statistics & numerical data
- Published
- 2020
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34. A case of testicular atrophy associated with cystic fibrosis.
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Profka E, Rodari G, Giacchetti F, Berrettini A, Manzoni G, Daccò V, Arosio M, Giavoli C, and Colombo C
- Abstract
Summary: An 8-year-old boy with cystic fibrosis came to our attention for an empty scrotum. General physical examination showed a normal penis and hypoplastic scrotum with non-palpable testes bilaterally. Routine blood investigations showed low levels of LH, testosterone, inhibin B and antiMullerian hormone and elevated levels of FSH. Karyotype was normal. An abdominal ultrasound confirmed the absence of the testes into the scrotum, in the inguinal region and abdomen. At laparoscopy were noted bilaterally hypotrophic spermatic vessels, absence of the vas deferens and a closed inner ring. Inguinal exploration found out a small residual testis and histological examination showed fibrotic tissue. This is the first case of testicular atrophy associated to CFTR mutation described. The process that led to bilateral testicular and vas deferens atrophy remains unexplained, a possible influence of CFTR dysfunction cannot be ruled out, although it is possible that these conditions are independently associated., Learning Points: Cystic fibrosis produces a multisystemic disease which can affect also the reproductive tract. Nearly 97-98% of male patients are infertile because of congenital bilateral absence of vas deferens. A correlation between cystic fibrosis and bilateral testicular atrophy could be possible.
- Published
- 2020
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35. A nutrition-based approach to epidermolysis bullosa: Causes, assessments, requirements and management.
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Salera S, Tadini G, Rossetti D, Grassi FS, Marchisio P, Agostoni C, Giavoli C, Rodari G, and Guez S
- Subjects
- Epidermolysis Bullosa etiology, Humans, Nutritional Status, Epidermolysis Bullosa complications, Epidermolysis Bullosa diet therapy, Malnutrition complications, Malnutrition diet therapy, Nutritional Support methods
- Abstract
Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of rare diseases characterized by skin and mucous membrane fragility. EB primarily involves the skin and, in specific subtypes, the mucous membrane, resulting in complications which can strongly affect nutritional status (e.g. gastrointestinal complications, hand deformities, pain). The aims of nutritional support mainly include improving nutritional status, alleviating the stress of oral feeding and minimizing nutritional deficiencies, thus consequently improving growth, pubertal development, bowel function, immune status and wound healing. The aim of this review is to discuss knowledge of different aspects of the disease related to nutrition and growth., (Copyright © 2019 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.)
- Published
- 2020
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36. Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1).
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Filopanti M, Verga U, Ulivieri FM, Giavoli C, Rodari G, Arosio M, Natacci F, and Spada A
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- Adult, Bone Density physiology, Bone Remodeling physiology, Cancellous Bone diagnostic imaging, Case-Control Studies, Cohort Studies, Disease Progression, Female, Humans, Male, Middle Aged, Osteoporosis etiology, Osteoporosis metabolism, Osteoporosis pathology, Osteoporosis physiopathology, Bone and Bones metabolism, Cancellous Bone pathology, Neurofibromatosis 1 complications, Neurofibromatosis 1 metabolism, Neurofibromatosis 1 pathology, Neurofibromatosis 1 physiopathology
- Abstract
In patients with neurofibromatosis type 1 (NF1), decreased bone mineral density (BMD) and low levels of 25-hydroxy vitamin D3 (25OHD) have been reported. Recently, the trabecular bone score (TBS) measurement has been proposed as index of bone microarchitecture and fracture risk. In 74 NF1 patients (48 females, 26 males, age 41 ± 12), we measured TBS and investigated clinical stage, lifestyle, vitamin D, serum bone turnover markers, vertebral and femoral BMD. A homogenous cohort of 61 healthy subjects was used as control group. TBS was lower in NF1 patients (1.266 ± 0.113 vs. 1.346 ± 0.105) without differences between sexes. No correlations with 25OHD, low exercise, low calcium intake, reduced sun exposure, and number of skin neurofibromas were observed. As expected, hypovitaminosis D was common (98.6%), as well as BMD reduction in hip and spine sites: In NF1 patients, bone texture evaluated by TBS was low in both sexes without any correlation with clinical or metabolic parameters, suggesting a direct role of the fibromin mutation.
- Published
- 2019
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37. Progressive bone impairment with age and pubertal development in neurofibromatosis type I.
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Rodari G, Scuvera G, Ulivieri FM, Profka E, Menni F, Saletti V, Esposito S, Bergamaschi S, Ferrante E, Eller-Vainicher C, Esposito S, Arosio M, and Giavoli C
- Subjects
- Adolescent, Bone Density, Bone Development, Bone Diseases congenital, Cancellous Bone diagnostic imaging, Child, Cohort Studies, Female, Humans, Lumbar Vertebrae diagnostic imaging, Male, Neurofibromatosis 1 complications, Neurofibromatosis 1 physiopathology, Absorptiometry, Photon methods, Aging physiology, Bone Diseases diagnostic imaging, Neurofibromatosis 1 diagnostic imaging, Puberty physiology
- Abstract
Bone density impairment represents an established complication in adults with neurofibromatosis type 1, while few data exist in the pediatric population. Age- and gender-adjusted bone mass decreases with age and pubertal development, identifying childhood as the best time frame to introduce prevention strategies aiming at peak bone mass achievement., Purpose: The present study aims at evaluating bone mineral density (BMD) in a population of children with neurofibromatosis type I (NF-1), with particular focus on changes occurring during growth and pubertal development., Methods: Bone metabolic markers and bone status [by dual-energy X-ray absorptiometry scans (DXA) of the total body and lumbar spine with morphometric analysis] were assessed in 50 children (33 males; mean age ± SD, 11.6 ± 4 years). Bone mineral apparent density (BMAD), trabecular bone score (TBS), and bone strain (BS) of the lumbar spine (LS) DXA were also obtained., Results: In our cohort areal BMD (aBMD) Z-score was below the mean in 88% of the patients at LS (70% after correction for bone size) and in 86% considering total body (TB) DXA. However, aBMD Z-score was < - 2 in 12% after correction for bone size at LS and TB, respectively. Lumbar spine aBMD Z-score (r = - 0.54, P < 0.0001), LS BMAD Z-score (r = - 0.53, P < 0.0001), and TB Z-score (r = - 0.39, P = 0.005) showed a negative correlation with growth and pubertal development (P = 0.007, P = 0.02, P = 0.01, respectively), suggesting that patients failed to gain as much as expected for age., Conclusion: Bone density impairment becomes more evident with growth and pubertal development in NF-1 patients, thus identifying childhood as the best time frame to introduce prevention strategies aiming at peak bone mass achievement. TBS and BS, providing bone DXA qualitative information, could be useful during longitudinal follow-up for better characterizing bone impairment in these patients.
- Published
- 2018
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38. Pediatric dual-energy X-ray absorptiometry in clinical practice: What the clinicians need to know.
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Messina C, Lastella G, Sorce S, Piodi LP, Rodari G, Giavoli C, Marchelli D, Guglielmi G, and Ulivieri FM
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- Adolescent, Body Height, Body Weight, Child, Female, Humans, Male, Physical Examination methods, Practice Guidelines as Topic, Reference Values, Reproducibility of Results, Risk Assessment, Absorptiometry, Photon methods, Bone Density physiology, Bone and Bones physiology, Child Development physiology
- Abstract
The importance of childhood and adolescence for bone development and mineral accrual is increasingly accepted, leading to a need of suitable methods for monitoring bone health even in pediatric setting. Among the several different imaging methods available for clinical measurement of bone mineral density (BMD) in children, dual-energy X-ray absorptiometry (DXA) is the most widely available and commonly used due to its reproducibility, negligible radiation dose and reliable pediatric reference data. Nevertheless, DXA in children has some technical specific features that should be known by those physicians who interpret and report this examination. We provide recommendations for optimal DXA scan reporting in pediatric setting, including indications, skeletal sites to be examined, parameters to be measured, timing of follow-up BMD measurements. Adequate report and analysis of DXA examinations are essential to prevent over- and underdiagnosis of bone mineral impairment in pediatric patients. In conclusion, a complete and exhaustive DXA report in children and adolescents is mandatory for an accurate diagnosis and a precise monitoring of pediatric bone status., (Copyright © 2018 Elsevier B.V. All rights reserved.)
- Published
- 2018
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39. Central hypothyroidism - a neglected thyroid disorder.
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Beck-Peccoz P, Rodari G, Giavoli C, and Lania A
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- Female, Humans, Hypothalamus physiopathology, Male, Neglected Diseases, Pituitary Gland physiopathology, Rare Diseases, Risk Assessment, Thyroid Function Tests, Thyroid Hormones therapeutic use, Thyroxine deficiency, Treatment Outcome, Hypothyroidism drug therapy, Hypothyroidism physiopathology, Thyroid Gland metabolism, Thyroxine metabolism
- Abstract
Central hypothyroidism is a rare and heterogeneous disorder that is characterized by a defect in thyroid hormone secretion in an otherwise normal thyroid gland due to insufficient stimulation by TSH. The disease results from the abnormal function of the pituitary gland, the hypothalamus, or both. Moreover, central hypothyroidism can be isolated or combined with other pituitary hormone deficiencies, which are mostly acquired and are rarely congenital. The clinical manifestations of central hypothyroidism are usually milder than those observed in primary hypothyroidism. Obtaining a positive diagnosis for central hypothyroidism can be difficult from both a clinical and a biochemical perspective. The diagnosis of central hypothyroidism is based on low circulating levels of free T
4 in the presence of low to normal TSH concentrations. The correct diagnosis of both acquired (also termed sporadic) and congenital (also termed genetic) central hypothyroidism can be hindered by methodological interference in free T4 or TSH measurements; routine utilization of total T4 or T3 measurements; concurrent systemic illness that is characterized by low levels of free T4 and normal TSH concentrations; the use of the sole TSH-reflex strategy, which is the measurement of the sole level of TSH, without free T4 , if levels of TSH are in the normal range; and the diagnosis of congenital hypothyroidism based on TSH analysis without the concomitant measurement of serum levels of T4 . In this Review, we discuss current knowledge of the causes of central hypothyroidism, emphasizing possible pitfalls in the diagnosis and treatment of this disorder.- Published
- 2017
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40. Focus on GH deficiency and thyroid function.
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Giavoli C, Profka E, Rodari G, Lania A, and Beck-Peccoz P
- Subjects
- Female, Hormone Replacement Therapy, Human Growth Hormone administration & dosage, Humans, Hypothalamo-Hypophyseal System physiopathology, Hypothyroidism diagnosis, Hypothyroidism physiopathology, Insulin-Like Growth Factor I, Male, Pituitary Hormones deficiency, Human Growth Hormone deficiency, Thyroid Gland physiopathology
- Abstract
The relationships between GH system and hypothalamic-pituitary-thyroid axis are complex and not yet fully understood. The reported effects of GH administration on thyroid status of GHD patients have been remarkably divergent. This review will focus on the main studies aimed to clarify the effects of GH on thyroid function, firstly going through the diagnosis of central hypothyroidism and its possible pitfalls, then elucidating the possible contexts in which GHD may develop and examining the proposed mechanisms at the basis of interactions between the GH-IGF-I system and the hypothalamic-pituitary-thyroid axis., (Copyright © 2017 Elsevier Ltd. All rights reserved.)
- Published
- 2017
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41. Evaluation of pituitary function after infectious meningitis in childhood.
- Author
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Giavoli C, Tagliabue C, Profka E, Senatore L, Bergamaschi S, Rodari G, Spada A, Beck-Peccoz P, and Esposito S
- Subjects
- Adrenocorticotropic Hormone metabolism, Age Factors, Central Nervous System Diseases immunology, Child, Child Development, Female, Humans, Hypopituitarism etiology, Hypopituitarism immunology, Hypothalamo-Hypophyseal System immunology, Italy epidemiology, Male, Meningitis complications, Meningitis immunology, Treatment Outcome, Central Nervous System Diseases physiopathology, Hypopituitarism physiopathology, Hypothalamo-Hypophyseal System physiopathology, Meningitis physiopathology
- Abstract
Background: A number of studies of adults have shown that pituitary deficiencies can develop in a considerable proportion of subjects during the acute phase of meningitis or years after the infection has disappeared. The results of the very few studies of the impact of pediatric meningitis on hypothalamic-pituitary function are conflicting., Methods: In order to determine the incidence of pituitary dysfunction in children with central nervous system infection, we evaluated pituitary function and anthropometric parameters in 19 children with meningitis of different etiologies (15 males; mean age ± standard deviation [SD] at pituitary evaluation, 5.9 ± 4.0 years; mean time from the acute event ± SD, 18 ± 10 months)., Results: All of the subjects had a normal stature and growth velocity for their age and gender, and none of them was obese. On the basis of Tanner's reference charts, 17 subjects (13 boys and all four girls) were pre-pubertal; two boys were in Tanner stage 2. None of the subjects had central hypothyroidism. All of the patients had normal serum of insulin growth factor (IGF)-I and prolactin. Their sex steroid and gonadotropin levels were concordant with their age and pubertal status. Early morning urine osmolality and serum electrolyte levels showed no signs of diabetes insipidus. All of the patients had normal plasma adrenocorticotropic hormone (ACTH) levels. Peak cortisol responses to the standard dose Synacthen test (SDST) were normal in all cases., Conclusions: The results showed that hypopituitarism following infectious meningitis appears to be infrequent in childhood and children's pituitary glands seem to be less vulnerable to damage than those of adults.
- Published
- 2014
- Full Text
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