Search

Your search keyword '"del^Giudice, Emanuele Miraglia"' showing total 319 results
Start Over Author "del^Giudice, Emanuele Miraglia"
319 results on '"del^Giudice, Emanuele Miraglia"'

1. Cardiometabolic risk in children and adolescents with obesity: a position paper of the Italian Society for Pediatric Endocrinology and Diabetology

Author

Valerio, Giuliana, Di Bonito, Procolo, Calcaterra, Valeria, Cherubini, Valentino, Corica, Domenico, De Sanctis, Luisa, Di Sessa, Anna, Faienza, Maria Felicia, Fornari, Elena, Iughetti, Lorenzo, Licenziati, Maria Rosaria, Manco, Melania, del Giudice, Emanuele Miraglia, Morandi, Anita, Salerno, Mariacarolina, Street, Maria Elisabeth, Umano, Giuseppina Rosaria, Wasniewska, Malgorzata, and Maffeis, Claudio

Published
2024
Full Text
View/download PDF

4. Impact of intrauterine growth restriction on cerebral and renal oxygenation and perfusion during the first 3 days after birth

Author

Montaldo, Paolo, Puzone, Simona, Caredda, Elisabetta, Pugliese, Umberto, Inserra, Emanuela, Cirillo, Grazia, Gicchino, Francesca, Campana, Giuseppina, Ursi, Davide, Galdo, Francesca, Internicola, Margherita, Spagnuolo, Ferdinando, Carpentieri, Mauro, Capristo, Carlo, Marzuillo, Pierluigi, and Del Giudice, Emanuele Miraglia

Published
2022
Full Text
View/download PDF

6. Elevated blood pressure, cardiometabolic risk and target organ damage in youth with overweight and obesity

Author

Forziato, Claudia, Gilardini, L., Loche, Sandro, Tornese, Gianluca, Di Bonito, Procolo, Pacifico, Lucia, Licenziati, Maria Rosaria, Maffeis, Claudio, Morandi, Anita, Manco, Melania, del Giudice, Emanuele Miraglia, Di Sessa, Anna, Campana, Giuseppina, Moio, Nicola, Baroni, Marco Giorgio, Chiesa, Claudio, De Simone, Giovanni, and Valerio, Giuliana

Published
2020
Full Text
View/download PDF

7. 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

11. Sex-Related Differences in Cardiovascular Risk in Adolescents with Overweight or Obesity.

Author

Di Bonito, Procolo, Di Sessa, Anna, Licenziati, Maria Rosaria, Corica, Domenico, Wasniewska, Malgorzata, del Giudice, Emanuele Miraglia, Morandi, Anita, Maffeis, Claudio, Faienza, Maria Felicia, Mozzillo, Enza, Calcaterra, Valeria, Franco, Francesca, Maltoni, Giulio, Moio, Nicola, Iannuzzi, Arcangelo, and Valerio, Giuliana

Abstract

Background: Pediatric obesity is closely associated with cardiometabolic comorbidities, but the role of sex in this relationship is less investigated. We aimed to evaluate sex-related differences on cardiometabolic risk factors and preclinical signs of target organ damage in adolescents with overweight/obesity (OW/OB). Methods: The main cross-sectional study included 988 adolescents (510 boys and 478 girls) with OW/OB aged 10-18 years. In all youths clinical and biochemical variables were evaluated and an abdominal echography was performed. Echocardiographic data for the assessment of left ventricular mass (LVM) and relative wall thickness (RWT) were available in an independent sample of 142 youths (67 boys and 75 girls), while echographic data of carotid intima media thickness (cIMT) were available in 107 youths (59 boys and 48 girls). Results: The three samples did not differ for age, body mass index, and sex distribution. In the main sample, boys showed higher waist-to-height ratio (WHtR) values (p < 0.0001) and fasting glucose levels (p = 0.002) than girls. Lower levels of estimates glomerular filtration rate (eGFR) were found in girls vs boys (p < 0.0001). No sex-related differences for prediabetes and hyperlipidemia were observed. A higher prevalence of WHtR ≥0.60 (57.3% vs 49.6%, p = 0.016) and fatty liver disease (FLD) (54.5% vs 38.3%, p < 0.0001) as well as a trend for high prevalence of hypertension (40.4 vs 34.7%, p = 0.06) were observed in boys vs girls. More, a higher prevalence of mild reduced eGFR (MReGFR) (<90 mL/min/1.73 m2 ) was observed in girls vs boys (14.6% vs 9.6 %, p < 0.0001). In the sample with echocardiographic evaluation, boys showed higher levels of LVM (p = 0.046), and RWT (p = 0.003) than girls. Again, in the sample with carotid echography, boys showed higher levels of cIMT as compared to girls (p = 0.011). Conclusions: Adolescent boys with OW/OB showed higher risk of abdominal adiposity, FLD, and increased cardiac and vascular impairment than girls, whereas the latter had a higher risk of MReGFR. Risk stratification by sex for cardiometabolic risk factors or preclinical signs of target organ damage should be considered in youths with OW/OB. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

12. The treatment of obesity in children and adolescents: consensus position statement of the Italian society of pediatric endocrinology and diabetology, Italian Society of Pediatrics and Italian Society of Pediatric Surgery

Author

Maffeis, Claudio, primary, Olivieri, Francesca, additional, Valerio, Giuliana, additional, Verduci, Elvira, additional, Licenziati, Maria Rosaria, additional, Calcaterra, Valeria, additional, Pelizzo, Gloria, additional, Salerno, Mariacarolina, additional, Staiano, Annamaria, additional, Bernasconi, Sergio, additional, Buganza, Raffaele, additional, Crinò, Antonino, additional, Corciulo, Nicola, additional, Corica, Domenico, additional, Destro, Francesca, additional, Di Bonito, Procolo, additional, Di Pietro, Mario, additional, Di Sessa, Anna, additional, deSanctis, Luisa, additional, Faienza, Maria Felicia, additional, Filannino, Grazia, additional, Fintini, Danilo, additional, Fornari, Elena, additional, Franceschi, Roberto, additional, Franco, Francesca, additional, Franzese, Adriana, additional, Giusti, Lia Franca, additional, Grugni, Graziano, additional, Iafusco, Dario, additional, Iughetti, Lorenzo, additional, Lera, Riccardo, additional, Limauro, Raffaele, additional, Maguolo, Alice, additional, Mancioppi, Valentina, additional, Manco, Melania, additional, Del Giudice, Emanuele Miraglia, additional, Morandi, Anita, additional, Moro, Beatrice, additional, Mozzillo, Enza, additional, Rabbone, Ivana, additional, Peverelli, Paola, additional, Predieri, Barbara, additional, Purromuto, Salvo, additional, Stagi, Stefano, additional, Street, Maria Elisabeth, additional, Tanas, Rita, additional, Tornese, Gianluca, additional, Umano, Giuseppina Rosaria, additional, and Wasniewska, Malgorzata, additional

Published
2023
Full Text
View/download PDF

13. The treatment of obesity in children and adolescents: consensus position statement of the Italian society of pediatric endocrinology and diabetology, Italian Society of Pediatrics and Italian Society of Pediatric Surgery

Author

Maffeis, Claudio, Olivieri, Francesca, Valerio, Giuliana, Verduci, Elvira, Licenziati, Maria Rosaria, Calcaterra, Valeria, Pelizzo, Gloria, Salerno, Mariacarolina, Staiano, Annamaria, Bernasconi, Sergio, Buganza, Raffaele, Crinò, Antonino, Corciulo, Nicola, Corica, Domenico, Destro, Francesca, Di Bonito, Procolo, Di Pietro, Mario, Di Sessa, Anna, Desanctis, Luisa, Faienza, Maria Felicia, Filannino, Grazia, Fintini, Danilo, Fornari, Elena, Franceschi, Roberto, Franco, Francesca, Franzese, Adriana, Giusti, Lia Franca, Grugni, Graziano, Iafusco, Dario, Iughetti, Lorenzo, Lera, Riccardo, Limauro, Raffaele, Maguolo, Alice, Mancioppi, Valentina, Manco, Melania, Del Giudice, Emanuele Miraglia, Morandi, Anita, Moro, Beatrice, Mozzillo, Enza, Rabbone, Ivana, Peverelli, Paola, Predieri, Barbara, Purromuto, Salvo, Stagi, Stefano, Street, Maria Elisabeth, Tanas, Rita, Tornese, Gianluca, Umano, Giuseppina Rosaria, and Wasniewska, Malgorzata

Subjects
Bariatric surgery, Treatment, Cognitive and family-based behavior therapy, Physical activity, Obesity, Drug, Adolescents, Children, Nutrition
Published
2023

14. Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report

Author

Aiello, Francesca, primary, Pasquali, Daniela, additional, Baronio, Federico, additional, Cassio, Alessandra, additional, Rossi, Cesare, additional, Di Fraia, Rosa, additional, Carotenuto, Raffaela, additional, Digitale, Lucia, additional, Festa, Adalgisa, additional, Luongo, Caterina, additional, Maltoni, Giulio, additional, Schiano di Cola, Roberta, additional, Del Giudice, Emanuele Miraglia, additional, and Grandone, Anna, additional

Published
2022
Full Text
View/download PDF

16. Diagnosis, treatment and prevention of pediatric obesity: consensus position statement of the Italian Society for Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics

Author

Valerio, Giuliana, Maffeis, Claudio, Saggese, Giuseppe, Ambruzzi, Maria Amalia, Balsamo, Antonio, Bellone, Simonetta, Bergamini, Marcello, Bernasconi, Sergio, Bona, Gianni, Calcaterra, Valeria, Canali, Teresa, Caroli, Margherita, Chiarelli, Francesco, Corciulo, Nicola, Crinò, Antonino, Di Bonito, Procolo, Di Pietrantonio, Violetta, Di Pietro, Mario, Di Sessa, Anna, Diamanti, Antonella, Doria, Mattia, Fintini, Danilo, Franceschi, Roberto, Franzese, Adriana, Giussani, Marco, Grugni, Graziano, Iafusco, Dario, Iughetti, Lorenzo, Lamborghini, Adima, Licenziati, Maria Rosaria, Limauro, Raffaele, Maltoni, Giulio, Manco, Melania, Reggiani, Leonardo Marchesini, Marcovecchio, Loredana, Marsciani, Alberto, del Giudice, Emanuele Miraglia, Morandi, Anita, Morino, Giuseppe, Moro, Beatrice, Nobili, Valerio, Perrone, Laura, Picca, Marina, Pietrobelli, Angelo, Privitera, Francesco, Purromuto, Salvatore, Ragusa, Letizia, Ricotti, Roberta, Santamaria, Francesca, Sartori, Chiara, Stilli, Stefano, Street, Maria Elisabeth, Tanas, Rita, Trifiró, Giuliana, Umano, Giuseppina Rosaria, Vania, Andrea, Verduci, Elvira, and Zito, Eugenio

Published
2018
Full Text
View/download PDF

17. Le basi genetiche dell’obesità

Author

Perrone, Laura, Raimondo, Paolo, Santoro, Nicola, del Giudice, Emanuele Miraglia, Giovannini, Marcello, editor, Maffeis, Claudio, editor, Molinari, Enrico, editor, and Scaglioni, Silvia, editor

Published
2006
Full Text
View/download PDF

22. Central sensitivity to thyroid hormones is reduced in youths with overweight or obesity and impaired glucose tolerance.

Author

Di Bonito, Procolo, Corica, Domenico, Licenziati, Maria Rosaria, Di Sessa, Anna, del Giudice, Emanuele Miraglia, Faienza, Maria Felicia, Calcaterra, Valeria, Franco, Francesca, Maltoni, Giulio, Valerio, Giuliana, and Wasniewska, Malgorzata

Subjects
THYROID hormones, GLYCOSYLATED hemoglobin, GLUCOSE, TYPE 2 diabetes, OBESITY
Abstract

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes. Objective: To evaluate the relationship between sensitivity to TH and impaired glucose tolerance (IGT), impaired fasting glucose (IFG), or glycosylated hemoglobin (HbA1c) ≥ 5.7% in youths with overweight/obesity (OW/OB). Materials and methods: This cross-sectional study included 805 Caucasian youths with OW or OB (aged 6-18 years) recruited at seven Italian centers for the care of OW/OB. Individuals with TH out of the normal range of TH in each center were excluded. The fT3/fT4 ratio was evaluated to assess peripheral sensitivity, while TSH index (TSHI), Thyrotroph T4 Resistance Index (TT4RI), Thyroid Feedback Quantile-based Index (TFQI) and Parametric TFQI were calculated to assess central sensitivity. Results: Youths with IGT (n =72) showed higher levels of TSH (3.08 ± 0.98 vs 2.68 ± 0.98 mIU/L, P =0.001), TSHI (3.06 ± 0.51 vs 2.85 ± 0.53, P =0.001), TT4RI (46.00 ± 17.87 vs 38.65 ± 16.27, P <0.0001), TFQI [1.00 (0.97-1.00) vs 1.00 (0.99-1.00)], P=0.034), PTFQI (0.67 ± 0.20 vs 0.60 ± 0.22, P =0.007) compared to youths without IGT (n =733), independently of centers and age. No differences were observed for fT3/fT4-ratio. The others phenotypes of prediabetes were not associated with altered sensitivity to TH. Odds ratio of IGT raised of 1-7-fold for each increase of 1 mIU/L in TSH (P =0.010), 1 unit in TSH Index (P =0.004), TT4RI (P =0.003) or PTFQI (P =0.018), independently of centers, age, and prepubertal stage. Conclusion: IGT was associated with a reduced central sensitivity to TH in youths with OW/OB. Our finding suggests that IGT phenotype, known to be associated with an altered cardiometabolic risk profile, might also be associated with an impaired TH homeostasis in youths with OW/OB. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

23. Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity

Author

Cottrell, Emily, primary, Maharaj, Avinaash, additional, Williams, Jack, additional, Chatterjee, Sumana, additional, Cirillo, Grazia, additional, del, Giudice Emanuele Miraglia, additional, Festa, Adalgisa, additional, Palumbo, Stefania, additional, Capalbo, Donatella, additional, Salerno, Mariacarolina, additional, Pignata, Claudio, additional, Savage, Martin O., additional, Schilbach, Katharina, additional, Bidlingmaier, Martin, additional, Hwa, Vivian, additional, Metherell, Louise A., additional, Grandone, Anna, additional, and Helen, L. Storr, additional

Published
2021
Full Text
View/download PDF

27. Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.

Author

Aiello, Francesca, Pasquali, Daniela, Baronio, Federico, Cassio, Alessandra, Rossi, Cesare, Di Fraia, Rosa, Carotenuto, Raffaela, Digitale, Lucia, Festa, Adalgisa, Luongo, Caterina, Maltoni, Giulio, Schiano di Cola, Roberta, Del Giudice, Emanuele Miraglia, and Grandone, Anna

Abstract

Lower limb deformities in children need careful orthopedic evaluation to distinguish physiological forms from pathological ones. X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by PHEX gene mutations where tibial varum can be the first sign. We report a family presenting with severe tibial varum, harbouring a rare PHEX intron mutation, c.1586+6T>C. This is the first clinical description available in literature for this variant. Despite the previous prediction of a mild phenotype in functional study, our patients showed important bone deformities, rickets and impaired growth since infancy followed by severe bone pain, hearing loss and reduced life quality in adulthood. Burosumab therapy improved biochemical and radiological findings in children and ameliorated quality of life in adults. This case demonstrated c.1586+6T>C causes a severe XLH phenotype, responsive to Burosumab. Familial genetic screening, enlarged to intronic region analysis, when XLH is suspected, allows precocious diagnosis to start timely the appropriate treatment. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

32. MKRN3 role in regulating pubertal onset: the state of art of functional studies.

Author

Palumbo, Stefania, Cirillo, Grazia, Aiello, Francesca, Papparella, Alfonso, del Giudice, Emanuele Miraglia, and Grandone, Anna

Abstract

Puberty is a critical process characterized by several physical and psychological changes that culminate in the achievement of sexual maturation and fertility. The onset of puberty depends on several incompletely understood mechanisms that certainly involve gonadotropin-releasing hormone (GnRH) and its effects on the pituitary gland. The role of makorin ring finger protein 3 (MKRN3) in the regulation of pubertal timing was revealed when loss-offunction mutations were identified in patients with central precocious puberty (CPP), which to date, represent the most commonly known genetic cause of this condition. The MKRN3 gene showed ubiquitous expression in tissues from a broad spectrum of species, suggesting an important cellular role. Its involvement in the initiation of puberty and endocrine functions has just begun to be studied. This review discusses some of the recent approaches developed to predict MKRN3 functions and its involvement in pubertal development. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

33. Case report: Goiter and overt hypothyroidism in an iodine-deficient toddler on soy milk and hypoallergenic diet.

Author

Caprio, Angela Maria, Umano, Giuseppina Rosaria, Luongo, Caterina, Aiello, Francesca, Iacono, Iride Dello, Palumbo, Stefania, del Giudice, Emanuele Miraglia, and Grandone, Anna

Subjects
MILK allergy, SOYMILK, GOITER, HYPOTHYROIDISM, FOOD habits, THYROID diseases
Abstract

Soy-based infant formulas (SFs) are often consumed by cow's milk allergic children. However, some concerns have risen since soy intake may adversely affect thyroid function in iodine-deficient or subclinical hypothyroid individuals. We report the first Italian case of SF induced goiter and hypothyroidism registered in our country since National Iodine program has been instituted. Finally, we review cases previously reported in literature. A 22-month-old toddler with a previous diagnosis of cow's milk protein allergy came to clinical attention for important goiter and overt hypothyroidism. Detailed dietary anamnesis revealed that he was on a restrictive dietary regimen based on soymilk since 12 months of age. A temporary levothyroxine substitution was instituted to avoid hypothyroidism complications. Adequate iodine supplementation and diet diversification completely reversed SF-induced hypothyroidism and goiter, confirming the diagnostic suspicion of soymilkinduced thyroid dysfunction in a iodine-deficient toddler. This case report demonstrates the importance of careful dietary habits investigation and adequate micronutrients supplementation in children on a restrictive diet due to multiple food allergies in order to prevent nutritional deficits. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

34. Pontine hyperperfusion in sporadic hyperekplexia

Author

Vetrugno, Roberto, Mascalchi, Mario, Vella, Alessandra, Della Nave, Riccardo, Guerrini, Laura, Vattimo, Angelo, del Giudice, Emanuele Miraglia, Plazzi, Giuseppe, D'Angelo, Roberto, Greco, Giovanni, and Montagna, Pasquale

Subjects
Magnetic resonance imaging -- Methods, Pons -- Medical examination, Pons -- Physiological aspects, Startle reaction -- Physiological aspects, Startle reaction -- Case studies, Startle reaction -- Genetic aspects, Startle reaction -- Abnormalities, Neurologic examination -- Evaluation, Nervous system diseases -- Diagnosis, Nervous system diseases -- Case studies, Health, Psychology and mental health
Published
2007

37. Familial trisomy 6p in mother and daughter

Author

Savarese, Marco, Grandone, Anna, Perone, Lucia, Blanco, Francesca Del Vecchio, De Luca, Giuseppina, Di Fruscio, Giuseppina, Fogu, Giuseppina, Piluso, Giulio, Perrone, Laura, del Giudice, Emanuele Miraglia, and Nigro, Vincenzo

Published
2013
Full Text
View/download PDF

42. Body Image Problems and Disordered Eating Behaviors in Italian Adolescents With and Without Type 1 Diabetes: An Examination With a Gender-Specific Body Image Measure

Author

Troncone, Alda, primary, Cascella, Crescenzo, additional, Chianese, Antonietta, additional, Zanfardino, Angela, additional, Piscopo, Alessia, additional, Borriello, Anna, additional, Casaburo, Francesca, additional, del Giudice, Emanuele Miraglia, additional, and Iafusco, Dario, additional

Published
2020
Full Text
View/download PDF

43. Elevated blood pressure, cardiometabolic risk and target organ damage in youth with overweight and obesity

Author

Di Bonito, Procolo, primary, Pacifico, Lucia, additional, Licenziati, Maria Rosaria, additional, Maffeis, Claudio, additional, Morandi, Anita, additional, Manco, Melania, additional, del Giudice, Emanuele Miraglia, additional, Di Sessa, Anna, additional, Campana, Giuseppina, additional, Moio, Nicola, additional, Baroni, Marco Giorgio, additional, Chiesa, Claudio, additional, De Simone, Giovanni, additional, Valerio, Giuliana, additional, Forziato, Claudia, additional, Gilardini, L., additional, Loche, Sandro, additional, and Tornese, Gianluca, additional

Published
2020
Full Text
View/download PDF

44. High Dietary Salt Intake in Pediatric Patients with Type 1 Diabetes Mellitus Not Related to Overweight and Obesity

Author

Zanfardino, Angela, primary, Zanfardino, Angela, additional, Marzuillo, Pierluigi, additional, Sessa, Linda, additional, Rollato, Assunta S, additional, Testa, Veronica, additional, Gallo, Maria G, additional, Piscopo, Alessia, additional, Casaburo, Francesca, additional, Curto, Stefano, additional, Ozen, Gulsum, additional, del Giudice, Emanuele Miraglia, additional, Confetto, Santino, additional, and Iafusco, Dario, additional

Published
2020
Full Text
View/download PDF

47. Association analysis indicates that a variant GATA-binding site in the PIK3CB promoter is a cis-acting expression quantitative trait locus for this gene and attenuates insulin resistance in obese children

Author

Le Stunff, Catherine, Dechartres, Agnes, Mariot, Virginie, Lotton, Chantal, Trainor, Cecelia, Del Giudice, Emanuele Miraglia, Meyre, David, Bieche, Ivan, Laurendeau, Ingrid, Froguel, Philippe, Zelenika, Diana, Fallin, Dani, Lathrop, Mark, Romeo, Paul-Henri, and Bougneres, Pierre

Subjects
Obesity in children -- Complications and side effects -- Genetic aspects -- Research -- Risk factors, Insulin resistance -- Genetic aspects -- Risk factors -- Research -- Complications and side effects, Genetic polymorphisms -- Identification and classification -- Research -- Genetic aspects, Phosphatidylinositol -- Genetic aspects -- Research, Health, Identification and classification, Complications and side effects, Genetic aspects, Research, Risk factors
Abstract

OBJECTIVE--In search of functional polymorphisms associated with the genetics of insulin resistance, we studied a variant in the promoter of PIK3CB, the gene coding for the catalytic p110β subunit of phosphatidylinositol (PI) 3-kinase, a major effector of insulin action. RESEARCH DESIGN AND METHODS--The rs361072 cfr variant was selected among single nucleotide polymorphisms of the PIK3CB region because we suspected that its common C allele (allelic frequency ~50% in Europeans) could create a GATA-binding motif and was genotyped in five cohorts of obese (n = 1,876) and two cohorts of nonobese (n = 1,490) European children. To estimate insulin resistance in these children, the homeostasis model assessment for insulin resistance (HOMA-IR) index was measured in strict nutritional conditions. GATA-binding and functional effects of rs361072 were explored in transfected cell lines and in lymphocytes from obese children. RESULTS--The rs361072 C/T variant was associated with HOMA-IR in the obese children cohorts (1.7 x [10.sup.-12] < P < 2 x [10.sup.-4] for C/C vs. T/T using regression analysis). HOMA-IR averaged 3.3 ± 0.1 in C/C and 4.5 ± 0.2 in T/T obese children (P = 4.5 x [10.sup.-6] by ANOVA). C/T patients had intermediate values. As shown by the interaction between BMI and genotype (P = 2.1 x [10.sup.-9]), the association of rs361072 with HOMA-IR depended on BMI and was only marginal in nonobese children (P = 0.04). At the molecular level, the C allele of rs361072 was found to create a GATA-binding site able to increase transcription of PIK3CB. CONCLUSIONS--We postulate that the C allele of rs361072 is a causal variant capable of attenuating insulin resistance in obese children through increased expression of p110β., Overweight and obesity affect 10-20% of children in Westernized countries. Obese adolescents develop variable degrees of insulin resistance (1-3), a multifactorial trait influenced not only by the amount of deposited [...]

Published
2008

48. Abnormal myocardial deformation properties in obese, non-hypertensive children: an ambulatory blood pressure monitoring, standard echocardiographic, and strain rate imaging study

Author

Di Salvo, Giovanni, Pacileo, Giuseppe, Del Giudice, Emanuele Miraglia, Natale, Francesco, Limongelli, Giuseppe, Verrengia, Marina, Rea, Alessandra, Fratta, Fiorella, Castaldi, Biagio, DʼAndrea, Antonello, Calabrò, Paolo, Miele, Tiziana, Coppola, Filomena, Russo, Maria Giovanna, Caso, Pio, Perrone, Laura, and Calabrò, Raffaele

Published
2006

Catalog

Books, media, physical & digital resources
See catalog results