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4. Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry

Author

Calcaterra, Valeria, Tornese, Gianluca, Zuccotti, Gianvincenzo, Staiano, Annamaria, Cherubini, Valentino, Gaudino, Rossella, Fazzi, Elisa Maria, Barbi, Egidio, Chiarelli, Francesco, Corsello, Giovanni, Esposito, Susanna Maria Roberta, Ferrara, Pietro, Iughetti, Lorenzo, Laforgia, Nicola, Maghnie, Mohamad, Marseglia, Gianluigi, Perilongo, Giorgio, Pettoello-Mantovani, Massimo, Ruggieri, Martino, Russo, Giovanna, Salerno, Mariacarolina, Striano, Pasquale, Valerio, Giuliana, and Wasniewska, Malgorzata

Published
2024
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9. Real-world evidence in achondroplasia: considerations for a standardized data set

Author

Alanay, Yasemin, Mohnike, Klaus, Nilsson, Ola, Alves, Inês, AlSayed, Moeenaldeen, Appelman-Dijkstra, Natasha M., Baujat, Genevieve, Ben-Omran, Tawfeg, Breyer, Sandra, Cormier-Daire, Valerie, Gregersen, Pernille Axél, Guillén-Navarro, Encarna, Högler, Wolfgang, Maghnie, Mohamad, Mukherjee, Swati, Cohen, Shelda, Pimenta, Jeanne, Selicorni, Angelo, Semler, J. Oliver, Sigaudy, Sabine, Popkov, Dmitry, Sabir, Ian, Noval, Susana, Sessa, Marco, and Irving, Melita

Published
2023
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10. The Italian registry for patients with Prader–Willi syndrome

Author

Salvatore, Marco, Torreri, Paola, Grugni, Graziano, Rocchetti, Adele, Maghnie, Mohamad, Patti, Giuseppa, Crinò, Antonino, Elia, Maurizio, Greco, Donatella, Romano, Corrado, Franzese, Adriana, Mozzillo, Enza, Colao, Annamaria, Pugliese, Gabriella, Pagotto, Uberto, Lo Preiato, Valentina, Scarano, Emanuela, Schiavariello, Concetta, Tornese, Gianluca, Fintini, Danilo, Bocchini, Sarah, Osimani, Sara, De Sanctis, Luisa, Sacco, Michele, Rutigliano, Irene, Delvecchio, Maurizio, Faienza, Maria Felicia, Wasniewska, Malgorzata, Corica, Domenico, Stagi, Stefano, Guazzarotti, Laura, Maffei, Pietro, Dassie, Francesca, and Taruscio, Domenica

Published
2023
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11. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Author

Maghnie, Mohamad, Semler, Oliver, Guillen-Navarro, Encarna, Selicorni, Angelo, Heath, Karen E., Haeusler, Gabriele, Hagenäs, Lars, Merker, Andrea, Leiva-Gea, Antonio, González, Vanesa López, Raimann, Adalbert, Rehberg, Mirko, Santos-Simarro, Fernando, Ertl, Diana-Alexandra, Gregersen, Pernille Axél, Onesimo, Roberta, Landfeldt, Erik, Jarrett, James, Quinn, Jennifer, Rowell, Richard, Pimenta, Jeanne, Cohen, Shelda, Butt, Thomas, Shediac, Renée, Mukherjee, Swati, and Mohnike, Klaus

Published
2023
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14. Prognostic factors in children and adolescents with differentiated thyroid carcinoma treated with total thyroidectomy and RAI: a real-life multicentric study

Author

Cistaro, Angelina, Quartuccio, Natale, Garganese, Maria Carmen, Villani, Maria Felicia, Altini, Claudio, Pizzoferro, Milena, Piccardo, Arnoldo, Cabria, Manlio, Massollo, Michela, Maghnie, Mohamad, Campennì, Alfredo, Siracusa, Massimiliano, Baldari, Sergio, Panareo, Stefano, Urso, Luca, Bartolomei, Mirco, De Palma, Diego, Grossi, Armando, Mazzoletti, Angelica, Dondi, Francesco, Bertagna, Francesco, Giubbini, Raffaele, and Albano, Domenico

Published
2022
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15. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Author

Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D’Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D., Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K., Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, and Salpietro, Vincenzo

Published
2022
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16. Optimising care and follow-up of adults with achondroplasia

Author

Fredwall, Svein, Allum, Yana, AlSayed, Moeenaldeen, Alves, Inês, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valerie, Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mohnike, Klaus, Mortier, Geert, Sousa, Sérgio B., and Wright, Michael

Published
2022
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18. Safety and Efficacy of Using Advanced Hybrid Closed Loop Off-Label in an Infant Diagnosed with Permanent Neonatal Diabetes Mellitus: A Case Report and a Look to the Future.

Author

Pezzotta, Federico, Sarale, Nicola, Spacco, Giordano, Tantari, Giacomo, Bertelli, Enrica, Bracciolini, Giulia, Secco, Andrea, d'Annunzio, Giuseppe, Maghnie, Mohamad, Minuto, Nicola, and Bassi, Marta

Subjects
INSULIN therapy, PATIENT safety, GLYCEMIC control, INSULIN pumps, TREATMENT effectiveness, INSULIN, SUBCUTANEOUS infusions, HYPERGLYCEMIA, INTRAVENOUS therapy, GENES, CONTINUOUS glucose monitoring, CHROMOSOMES, DIABETES, HYPOGLYCEMIA, EVALUATION, CHILDREN
Abstract

The case report shows the safety and efficacy of insulin treatment with Advanced Hybrid Closed Loop (AHCL) system in a young patient affected by permanent neonatal diabetes mellitus (PNDM) due to chromosome 8 deletion syndrome involving the GATA4 gene. In the first days of life, he presented hyperglycaemia and started an intravenous insulin infusion therapy, replaced by a continuous subcutaneous insulin infusion (CSII) with Medtronic Minimed 780G® insulin pump (Medtronic, Northridge, CA, USA). At the age of 2 years, the off-label activation of SmartGuard® automated insulin delivery mode led to a great improvement in glycaemic control, reaching all recommended targets. At the 1-month follow-up visit, Time in Range (TIR) increased from 66% to 79%, with a Time in Tight Range (TTIR) of 55% and a reduction of 11% in time in hyperglycaemia and of 2% in time in hypoglycaemia. During the entire follow-up, no episodes of ketoacidosis or severe hypoglycaemia were observed and the patient maintained the glycaemic recommended targets reached at 1 month. Maintaining optimal glycaemic control and reducing hyperglycaemia are essential for brain growth and neurocognitive development in young patients. AHCL use should be considered to ensure good glycaemic control in patients affected by neonatal diabetes. [ABSTRACT FROM AUTHOR]

Published
2024
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19. One-Year Effect of Elexacaftor/Tezacaftor/Ivacaftor Therapy on HbA1c Levels and Insulin Requirement in Patients with Insulin-Dependent Cystic Fibrosis-Related Diabetes: A Retrospective Observational Study.

Author

Bassi, Marta, Strati, Marina Francesca, Spiandorello, Gaia, Scalas, Marta, Cresta, Federico, Calevo, Maria Grazia, d'Annunzio, Giuseppe, Castellani, Carlo, Minuto, Nicola, Maghnie, Mohamad, and Casciaro, Rosaria

Subjects
GLYCEMIC control, CYSTIC fibrosis, INSULIN therapy, GLYCOSYLATED hemoglobin, CYSTIC fibrosis transmembrane conductance regulator
Abstract

Introduction: The impact of ETI therapy on pulmonary function and nutritional status has been widely studied; the literature on the possible outcomes on glycemic control and insulin requirement in patients affected by CFRD is controversial. Aim: The main objective of our study was to evaluate HbA1c levels in patients with cystic fibrosis-related diabetes (CFRD) after one year of therapy with elexacaftor/tezacaftor/ivacaftor (ETI). The secondary objective was to study the changes in the total daily insulin dose (TDD), pulmonary function and metabolism in this population. Materials and methods: A retrospective single-center observational study was conducted at the Regional Cystic Fibrosis Centre and Diabetology Centre of IRCCS Istituto Giannina Gaslini. The observation period was divided into four different time points: initiation (T0), 3 months (T3mo), 6 months (T6mo) and 12 months (T12mo) of ETI therapy. Demographic and clinical data were collected. The results were then stratified by genotype (homozygous or heterozygous F508del). Results: Twenty-eight patients with CFRD undergoing insulin therapy were included. TDD (IU) significantly decreased at T3mo and T6mo, but not at T12mo, whereas HbA1c decreased significantly at all three times. The number of hospitalizations and pulmonary exacerbations decreased significantly. Conclusion: We demonstrated both improvement in glycemic control (by means of HbA1c) and insulin requirement in insulin-dependent CFRD patients after one year of ETI treatment. [ABSTRACT FROM AUTHOR]

Published
2024
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21. Gene expression signatures predict response to therapy with growth hormone

Author

Stevens, Adam, Murray, Philip, De Leonibus, Chiara, Garner, Terence, Koledova, Ekaterina, Ambler, Geoffrey, Kapelari, Klaus, Binder, Gerhard, Maghnie, Mohamad, Zucchini, Stefano, Bashnina, Elena, Skorodok, Julia, Yeste, Diego, Belgorosky, Alicia, Siguero, Juan-Pedro Lopez, Coutant, Regis, Vangsøy-Hansen, Eirik, Hagenäs, Lars, Dahlgren, Jovanna, Deal, Cheri, Chatelain, Pierre, and Clayton, Peter

Published
2021
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25. Frequency and Predictive Factors of Hypoglycemia in Patients Treated With rhIGF-1: Data From the Eu-IGFD Registry

Author

Bang, Peter, Polak, Michel, Bossowski, Artur, Maghnie, Mohamad, Argente, Jesus, Ramon-Krauel, Marta, Sert, Caroline, Perrot, Valerie, Mazain, Sarah, Woelfle, Joachim, Bang, Peter, Polak, Michel, Bossowski, Artur, Maghnie, Mohamad, Argente, Jesus, Ramon-Krauel, Marta, Sert, Caroline, Perrot, Valerie, Mazain, Sarah, and Woelfle, Joachim

Abstract

Context The European Increlex & REG; Growth Forum Database (Eu-IGFD) is an ongoing surveillance registry (NCT00903110) established to collect long-term safety and effectiveness data on the use of recombinant human insulin-like growth factor-1 (rhIGF-1, mecasermin, Increlex) for the treatment of children/adolescents with severe primary insulin-like growth factor-1 deficiency (SPIGFD).Objective This analysis of Eu-IGFD data aimed to identify the frequency and predictive factors for hypoglycemia adverse events (AEs) in children treated with rhIGF-1.Methods Data were collected from December 2008 to May 2021. Logistic regression was performed to identify predictive risk factors for treatment-induced hypoglycemia AEs. Odds ratios (ORs) are presented with 95% CIs for each factor.Results In total, 306 patients were enrolled in the registry; 84.6% were diagnosed with SPIGFD. Patients who experienced & GE; 1 hypoglycemia AE (n = 80) compared with those with no hypoglycemia AEs (n = 224) had a lower mean age at treatment start (8.7 years vs 9.8 years), a more frequent diagnosis of Laron syndrome (27.5% vs 10.3%), and a history of hypoglycemia (18.8% vs 4.5%). Prior history of hypoglycemia (OR 0.25; 95% CI: [0.11; 0.61]; P = .002) and Laron syndrome diagnosis (OR 0.36; 95% CI: [0.18; 0.72]; P = .004) predicted future hypoglycemia AEs. Total hypoglycemia AEs per patient per treatment year was 0.11 and total serious hypoglycemia AEs per patient per treatment year was 0.01.Conclusion Hypoglycemia occurs more frequently in patients with prior history of hypoglycemia and/or Laron syndrome compared with patients without these risk factors, and these patients should be carefully monitored for this AE throughout treatment., Funding Agencies|The authors thank all patients involved in the study, as well as their caregivers, care team, investigators, and research staff in participating institutions. The authors thank Reuben Duncan, and Marc Lynch, PhD, of Costello Medical, for medical writing su

Published
2024
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26. Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry

Author

Calcaterra, V, Tornese, G, Zuccotti, G, Staiano, A, Cherubini, V, Gaudino, R, Fazzi, E, Barbi, E, Chiarelli, F, Corsello, G, Esposito, S, Ferrara, P, Iughetti, L, Laforgia, N, Maghnie, M, Marseglia, G, Perilongo, G, Pettoello-Mantovani, M, Ruggieri, M, Russo, G, Salerno, M, Striano, P, Valerio, G, Wasniewska, M, Agosti, M, Agostoni, C, Aiuti, A, Azzari, C, Badolato, R, Balduzzi, A, Baraldi, E, Canani, R, Biffi, A, Biondi, A, Bisogno, G, Pierri, N, Carnielli, V, Cianfarani, S, Cogo, P, Corvaglia, L, Dani, C, Di Salvo, G, Fagioli, F, Fanos, V, Ferrero, G, Francavilla, R, Galli, L, Gazzolo, D, Giaquinto, C, Giordano, P, Gitto, E, Grosso, S, Guarino, A, Indrio, F, Lanari, M, Lionetti, P, Locatelli, F, Lombardo, F, Maffeis, C, Marino, B, Midulla, F, Del Giudice, E, Del Giudice, M, Montini, G, Parenti, G, Parisi, P, Peroni, D, Perrotta, S, Piacentini, G, Pietrobelli, A, Raimondi, F, Ramenghi, U, Ravelli, A, Romano, C, Rossi, F, Rossi, P, Damiano, V, Spalice, A, Suppiej, A, Troncone, R, Verrotti, A, Null, N, Calcaterra, Valeria, Tornese, Gianluca, Zuccotti, Gianvincenzo, Staiano, Annamaria, Cherubini, Valentino, Gaudino, Rossella, Fazzi, Elisa Maria, Barbi, Egidio, Chiarelli, Francesco, Corsello, Giovanni, Esposito, Susanna Maria Roberta, Ferrara, Pietro, Iughetti, Lorenzo, Laforgia, Nicola, Maghnie, Mohamad, Marseglia, Gianluigi, Perilongo, Giorgio, Pettoello-Mantovani, Massimo, Ruggieri, Martino, Russo, Giovanna, Salerno, Mariacarolina, Striano, Pasquale, Valerio, Giuliana, Wasniewska, Malgorzata, Agosti, Massimo, Agostoni, Carlo Virginio, Aiuti, Alessandro, Azzari, Chiara, Badolato, Raffaele, Balduzzi, Adriana, Baraldi, Eugenio, Canani, Roberto Berni, Biffi, Alessandra, Biondi, Andrea, Bisogno, Gianni, Pierri, Nicola Brunetti, Carnielli, Virginio, Cianfarani, Stefano, Cogo, Paola, Corvaglia, Luigi, Dani, Carlo, Di Salvo, Giovanni, Fagioli, Franca, Fanos, Vassilios, Ferrero, Giovanni Battista, Francavilla, Ruggiero, Galli, Luisa, Gazzolo, Diego, Giaquinto, Carlo, Giordano, Paola, Gitto, Eloisa, Grosso, Salvatore, Guarino, Alfredo, Indrio, Flavia, Lanari, Marcello, Lionetti, Paolo, Locatelli, Franco, Lombardo, Fortunato, Maffeis, Claudio, Marino, Bruno, Midulla, Fabio, Del Giudice, Emanuele Miraglia, Del Giudice, Michele Miraglia, Montini, Giovanni, Parenti, Giancarlo, Parisi, Pasquale, Peroni, Diego, Perrotta, Silverio, Piacentini, Giorgio, Pietrobelli, Angelo, Raimondi, Francesco, Ramenghi, Ugo, Ravelli, Angelo, Romano, Claudio, Rossi, Francesca, Rossi, Paolo, Damiano, Vincenzo Salpietro, Spalice, Alberto, Suppiej, Agnese, Troncone, Riccardo, Verrotti, Alberto, null, null, Calcaterra, V, Tornese, G, Zuccotti, G, Staiano, A, Cherubini, V, Gaudino, R, Fazzi, E, Barbi, E, Chiarelli, F, Corsello, G, Esposito, S, Ferrara, P, Iughetti, L, Laforgia, N, Maghnie, M, Marseglia, G, Perilongo, G, Pettoello-Mantovani, M, Ruggieri, M, Russo, G, Salerno, M, Striano, P, Valerio, G, Wasniewska, M, Agosti, M, Agostoni, C, Aiuti, A, Azzari, C, Badolato, R, Balduzzi, A, Baraldi, E, Canani, R, Biffi, A, Biondi, A, Bisogno, G, Pierri, N, Carnielli, V, Cianfarani, S, Cogo, P, Corvaglia, L, Dani, C, Di Salvo, G, Fagioli, F, Fanos, V, Ferrero, G, Francavilla, R, Galli, L, Gazzolo, D, Giaquinto, C, Giordano, P, Gitto, E, Grosso, S, Guarino, A, Indrio, F, Lanari, M, Lionetti, P, Locatelli, F, Lombardo, F, Maffeis, C, Marino, B, Midulla, F, Del Giudice, E, Del Giudice, M, Montini, G, Parenti, G, Parisi, P, Peroni, D, Perrotta, S, Piacentini, G, Pietrobelli, A, Raimondi, F, Ramenghi, U, Ravelli, A, Romano, C, Rossi, F, Rossi, P, Damiano, V, Spalice, A, Suppiej, A, Troncone, R, Verrotti, A, Null, N, Calcaterra, Valeria, Tornese, Gianluca, Zuccotti, Gianvincenzo, Staiano, Annamaria, Cherubini, Valentino, Gaudino, Rossella, Fazzi, Elisa Maria, Barbi, Egidio, Chiarelli, Francesco, Corsello, Giovanni, Esposito, Susanna Maria Roberta, Ferrara, Pietro, Iughetti, Lorenzo, Laforgia, Nicola, Maghnie, Mohamad, Marseglia, Gianluigi, Perilongo, Giorgio, Pettoello-Mantovani, Massimo, Ruggieri, Martino, Russo, Giovanna, Salerno, Mariacarolina, Striano, Pasquale, Valerio, Giuliana, Wasniewska, Malgorzata, Agosti, Massimo, Agostoni, Carlo Virginio, Aiuti, Alessandro, Azzari, Chiara, Badolato, Raffaele, Balduzzi, Adriana, Baraldi, Eugenio, Canani, Roberto Berni, Biffi, Alessandra, Biondi, Andrea, Bisogno, Gianni, Pierri, Nicola Brunetti, Carnielli, Virginio, Cianfarani, Stefano, Cogo, Paola, Corvaglia, Luigi, Dani, Carlo, Di Salvo, Giovanni, Fagioli, Franca, Fanos, Vassilios, Ferrero, Giovanni Battista, Francavilla, Ruggiero, Galli, Luisa, Gazzolo, Diego, Giaquinto, Carlo, Giordano, Paola, Gitto, Eloisa, Grosso, Salvatore, Guarino, Alfredo, Indrio, Flavia, Lanari, Marcello, Lionetti, Paolo, Locatelli, Franco, Lombardo, Fortunato, Maffeis, Claudio, Marino, Bruno, Midulla, Fabio, Del Giudice, Emanuele Miraglia, Del Giudice, Michele Miraglia, Montini, Giovanni, Parenti, Giancarlo, Parisi, Pasquale, Peroni, Diego, Perrotta, Silverio, Piacentini, Giorgio, Pietrobelli, Angelo, Raimondi, Francesco, Ramenghi, Ugo, Ravelli, Angelo, Romano, Claudio, Rossi, Francesca, Rossi, Paolo, Damiano, Vincenzo Salpietro, Spalice, Alberto, Suppiej, Agnese, Troncone, Riccardo, Verrotti, Alberto, and null, null

Abstract

Background In response to the imperative need for standardized support for adolescent Gender Dysphoria (GD), the Italian Academy of Pediatrics, in collaboration with the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, Italian Society of Adolescent Medicine and Italian Society of Child and Adolescent Neuropsychiatry is drafting a position paper. The purpose of this paper is to convey the author's opinion on the topic, offering foundational information on potential aspects of gender-affirming care and emphasizing the care and protection of children and adolescents with GD.Main body Recognizing that adolescents may choose interventions based on their unique needs and goals and understanding that every individual within this group has a distinct trajectory, it is crucial to ensure that each one is welcomed and supported. The approach to managing individuals with GD is a multi-stage process involving a multidisciplinary team throughout all phases. Decisions regarding treatment should be reached collaboratively by healthcare professionals and the family, while considering the unique needs and circumstances of the individual and be guided by scientific evidence rather than biases or ideologies. Politicians and high court judges should address discrimination based on gender identity in legislation and support service development that aligns with the needs of young people. It is essential to establish accredited multidisciplinary centers equipped with the requisite skills and experience to effectively manage adolescents with GD, thereby ensuring the delivery of high-quality care.Conclusion Maintaining an evidence-based approach is essential to safeguard the well-being of transgender and gender diverse adolescents.

Published
2024

31. Real-world evidence in achondroplasia:considerations for a standardized data set

Author

Alanay, Yasemin, Mohnike, Klaus, Nilsson, Ola, Alves, Inês, AlSayed, Moeenaldeen, Appelman-Dijkstra, Natasha M., Baujat, Genevieve, Ben-Omran, Tawfeg, Breyer, Sandra, Cormier-Daire, Valerie, Gregersen, Pernille Axél, Guillén-Navarro, Encarna, Högler, Wolfgang, Maghnie, Mohamad, Mukherjee, Swati, Cohen, Shelda, Pimenta, Jeanne, Selicorni, Angelo, Semler, J. Oliver, Sigaudy, Sabine, Popkov, Dmitry, Sabir, Ian, Noval, Susana, Sessa, Marco, and Irving, Melita

Subjects
Quality of life, Real-world evidence, Registry, Growth, Rare disease, Real-world data, Achondroplasia
Abstract

Background: Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, and that captures long-term, high-quality data, would improve understanding of the natural history of achondroplasia, quality of life, and related outcomes. Methods: The Europe, Middle East, and Africa (EMEA) Achondroplasia Steering Committee comprises a multidisciplinary team of 17 clinical experts and 3 advocacy organization representatives. The committee undertook an exercise to identify essential data elements for a standardized prospective registry to study the natural history of achondroplasia and related outcomes. Results: A range of RWE on achondroplasia is being collected at EMEA centres. Whereas commonalities exist, the data elements, methods used to collect and store them, and frequency of collection vary. The topics considered most important for collection were auxological measures, sleep studies, quality of life, and neurological manifestations. Data considered essential for a prospective registry were grouped into six categories: demographics; diagnosis and patient measurements; medical issues; investigations and surgical events; medications; and outcomes possibly associated with achondroplasia treatments. Conclusions: Long-term, high-quality data are needed for this rare, multifaceted condition. Establishing registries that collect predefined data elements across age spans will provide contemporaneous prospective and longitudinal information and will be useful to improve clinical decision-making and management. It should be feasible to collect a minimum dataset with the flexibility to include country-specific criteria and pool data across countries to examine clinical outcomes associated with achondroplasia and different therapeutic approaches.

Published
2023

34. Dermatofitosi diffusa con kerion

Author

Scaglione, Marco, primary, Repetto, Agnese, additional, Maghnie, Mohamad, additional, Di Vito, Michele, additional, Aicardi, Marco, additional, and Fratangeli, Nadia, additional

Published
2023
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36. Testis Development and Descent

Author

Mattioli, Girolamo, Lazzeroni, Pietro, Paraboschi, Irene, Di Iorgi, Natascia, Napoli, Flavia, Maghnie, Mohamad, Lenzi, Andrea, Series editor, Jannini, Emmanuele A., Series editor, Simoni, Manuela, editor, and Huhtaniemi, Ilpo T., editor

Published
2017
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38. Addressing gaps in care of people with conditions affecting sex development and maturation

Author

Hiort, Olaf, Cools, Martine, Springer, Alexander, McElreavey, Ken, Greenfield, Andy, Wudy, Stefan A., Kulle, Alexandra, Ahmed, S. Faisal, Dessens, Arianne, Balsamo, Antonio, Maghnie, Mohamad, Bonomi, Marco, Dattani, Mehul, Persani, Luca, Audi, Laura, and on behalf of COST Actions DSDnet and GnRH Network as well as the European Reference Network for Rare Endocrine Conditions (Endo–ERN)

Published
2019
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40. Blood Lymphocyte Subsets and Proinflammatory Cytokine Profile in ROHHAD(NET) and non-ROHHAD(NET) Obese Individuals

Author

Fava, Daniela, primary, Morandi, Fabio, additional, Prigione, Ignazia, additional, Angelelli, Alessia, additional, Bocca, Paola, additional, Pistorio, Angela, additional, Volpi, Stefano, additional, Patti, Giuseppa, additional, Pepino, Carlotta, additional, Casalini, Emilio, additional, Allegri, Anna Elsa Maria, additional, Di Iorgi, Natascia, additional, d’Annunzio, Giuseppe, additional, Napoli, Flavia, additional, and Maghnie, Mohamad, additional

Published
2023
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41. Precocious Puberty Diagnoses Spike, COVID-19 Pandemic, and Body Mass Index: Findings From a 4-year Study

Author

Fava, Daniela, primary, Pepino, Carlotta, additional, Tosto, Valentina, additional, Gastaldi, Roberto, additional, Pepe, Alessia, additional, Paoloni, Dalila, additional, Strati, Marina Francesca, additional, Angelelli, Alessia, additional, Calandrino, Andrea, additional, Tedesco, Caterina, additional, Camia, Tiziana, additional, Allegri, Anna Elsa Maria, additional, Patti, Giuseppa, additional, Casalini, Emilio, additional, Bassi, Marta, additional, Calevo, Maria Grazia, additional, Napoli, Flavia, additional, and Maghnie, Mohamad, additional

Published
2023
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42. Abnormalities of pubertal development and gonadal function in Noonan syndrome

Author

Patti, Giuseppa, primary, Scaglione, Marco, additional, Maiorano, Nadia Gabriella, additional, Rosti, Giulia, additional, Divizia, Maria Teresa, additional, Camia, Tiziana, additional, De Rose, Elena Lucia, additional, Zucconi, Alice, additional, Casalini, Emilio, additional, Napoli, Flavia, additional, Di Iorgi, Natascia, additional, and Maghnie, Mohamad, additional

Published
2023
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46. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Author

Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta M., Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfons, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat N., Atawneh, Osama, Lim, Shen-Yang, Zuccotti, Gian V., Marseglia, Gian L., Esposito, Susanna, Shaikh, Farooq, Cogo, Paola, Corsello, Giovanni, Mangano, Salvatore, Nardello, Rosaria, Mangano, Donato, Scardamaglia, Annarita, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Morello, Giovanna, Zollo, Massimo, Berni-Canani, Roberto, Terracciano, Luigi M., Sisto, Antonio, Di Fabio, Sandra, Strano, Federica, Scorrano, Giovanna, Di Bella, Saverio, Di Francesco, Ludovica, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Fiorillo, Chiara, Iacomino, Michele, Gaudio, Eugenio, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Iughetti, Lorenzo, Di Rosa, Gabriella, Maghnie, Mohamad, Pettoello-Mantovani, Massimo, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Bottone, Gabriella, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Miraglia-Del-Giudice, Michele, Maccarone, Rita, Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., Seri, Marco, Di-Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elisa, Maurizio, Cherubini, Enrico, Operto, Francesca F., Valenzise, Mariella, Cattaneo, Antonino, Zazzeroni, Francesca, Alesse, Edoardo, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Ahmed, Muhammad M., Parisi, Pasquale, Spalice, Alberto, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., Al Mutairi, Fuad, Rad, Aboulfazl, Rocca, Clarissa, Calì, Elisa, Accogli, Andrea, Zara, Federico, Striano, Pasquale, Mojarrad, Majid, Tariq, Huma, Giacopuzzi, Edoardo, Taylor, Jenny C., Oprea, Gabriela, Skrahina, Volha, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, Bassiony, Mahmoud, El Said, Huda G., Abdel-Hamid, Mohamed S., Al Shalan, Maha, Seo, Gohun, Kim, Sohyun, Lee, Hane, Khang, Rin, Issa, Mahmoud Y., Elbendary, Hasnaa M., Rafat, Karima, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Eslahi, Atieh, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Bertoli-Avella, Aida, Pagnamenta, Alistair T., Niceta, Marcello, Battini, Roberta, Corsello, Antonio, Leoni, Chiara, Chiarelli, Francesco, Dallapiccola, Bruno, Faqeih, Eissa Ali, Tallur, Krishnaraya K., Alfadhel, Majid, Alobeid, Eman, Maddirevula, Sateesh, Mankad, Kshitij, Banka, Siddharth, Ghayoor-Karimiani, Ehsan, Tartaglia, Marco, Chung, Wendy K., Green, Rachel, Jepson, James E.C., and Houlden, Henry

Published
2024
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49. Corrigendum: Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age

Author

Patti, Giuseppa, primary, Malerba, Federica, additional, Calevo, Maria Grazia, additional, Schiavone, Maurizio, additional, Scaglione, Marco, additional, Casalini, Emilio, additional, Russo, Silvia, additional, Fava, Daniela, additional, Bassi, Marta, additional, Napoli, Flavia, additional, Allegri, Anna Elsa Maria, additional, D’Annunzio, Giuseppe, additional, Gastaldi, Roberto, additional, Maghnie, Mohamad, additional, and Di Iorgi, Natascia, additional

Published
2023
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50. Automated Insulin Delivery (AID) Systems: Use and Efficacy in Children and Adults with Type 1 Diabetes and Other Forms of Diabetes in Europe in Early 2023

Author

Bassi, Marta, primary, Franzone, Daniele, additional, Dufour, Francesca, additional, Strati, Marina Francesca, additional, Scalas, Marta, additional, Tantari, Giacomo, additional, Aloi, Concetta, additional, Salina, Alessandro, additional, d’Annunzio, Giuseppe, additional, Maghnie, Mohamad, additional, and Minuto, Nicola, additional

Published
2023
Full Text
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