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28 results on '"Perrone, Laura"'

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

Published
2018
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4. MKRN3 levels in girls with central precocious puberty and correlation with sexual hormone levels: a pilot study

Author

Grandone, Anna, primary, Cirillo, Grazia, additional, Sasso, Marcella, additional, Capristo, Carlo, additional, Tornese, Gianluca, additional, Marzuillo, Pierluigi, additional, Luongo, Caterina, additional, Rosaria Umano, Giuseppina, additional, Festa, Adalgisa, additional, Coppola, Ruggero, additional, Miraglia del Giudice, Emanuele, additional, and Perrone, Laura, additional

Published
2017
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11. Refractory rheumatoid factor positive polyarthritis in a female adolescent already suffering from type 1 diabetes mellitus and Hashimoto’s thyroiditis successfully treated with etanercept

Author

Olivieri, Alma Nunzia, primary, Iafusco, Dario, additional, Mellos, Antonio, additional, Zanfardino, Angela, additional, Mauro, Angela, additional, Granato, Carmela, additional, Gicchino, Maria Francesca, additional, Prisco, Francesco, additional, and Perrone, Laura, additional

Published
2013
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13. Management of Prepubertal Gynecomastia in Two Monozygotic Twins With Peutz-Jeghers Syndrome: From Aromatase Inhibitors To Subcutaneous Mastectomy

Author

Ferraro, Giuseppe Andrea, primary, Romano, Tiziana, additional, De Francesco, Francesco, additional, Grandone, Anna, additional, D’Andrea, Francesco, additional, Giudice, Emanuele Miraglia del, additional, Cataldo, Chiara, additional, Gatta, Gianluca, additional, Di Grezia, Graziella, additional, Perrone, Laura, additional, and Nicoletti, Gianfranco, additional

Published
2013
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18. IGF2 Gene Variants and Risk of Hypertension in Obese Children and Adolescents

Author

Faienza, Maria F, primary, Santoro, Nicola, additional, Lauciello, Rosaria, additional, Calabrò, Raffaele, additional, Giordani, Lucia, additional, Di Salvo, Giovanni, additional, Ventura, Annamaria, additional, Delvecchio, Maurizio, additional, Perrone, Laura, additional, Del Giudice, Emanuele M, additional, and Cavallo, Luciano, additional

Published
2010
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20. Prevalence of pathogenetic MC4R mutations in Italian children with early Onset obesity, tall stature and familial history of obesity

Author

Santoro, Nicola, primary, Cirillo, Grazia, additional, Xiang, Zhimin, additional, Tanas, Rita, additional, Greggio, Nella, additional, Morino, Giuseppe, additional, Iughetti, Lorenzo, additional, Vottero, Alessandra, additional, Salvatoni, Alessandro, additional, Di Pietro, Mario, additional, Balsamo, Antonio, additional, Crinò, Antonino, additional, Grandone, Anna, additional, Haskell-Luevano, Carrie, additional, Perrone, Laura, additional, and del Giudice, Emanuele Miraglia, additional

Published
2009
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24. MKRN3 levels in girls with central precocious puberty and correlation with sexual hormone levels: a pilot study

Author

Emanuele Miraglia del Giudice, Carlo Capristo, Giuseppina Rosaria Umano, Marcella Sasso, Ruggero Coppola, Adalgisa Festa, Laura Perrone, Gianluca Tornese, Pierluigi Marzuillo, Caterina Luongo, Grazia Cirillo, Anna Grandone, Grandone, Anna, Cirillo, Grazia, Sasso, Marcella, Capristo, Carlo, Tornese, Gianluca, Marzuillo, Pierluigi, Luongo, Caterina, Rosaria Umano, Giuseppina, Festa, Adalgisa, Coppola, Ruggero, Miraglia Del Giudice, Emanuele, Perrone, Laura, MIRAGLIA DEL GIUDICE, Emanuele, Grandone, A., Cirillo, G., Sasso, M., Capristo, C., Tornese, G., Marzuillo, P., Luongo, C., Rosaria Umano, G., Festa, A., Coppola, R., Miraglia del Giudice, E., and Perrone, L.

Subjects
Anti-Mullerian Hormone, Endocrinology, Diabetes and Metabolism, Puberty, Precocious, Pilot Projects, Gonadotropin-Releasing Hormone, Correlation, Pubertal stage, 0302 clinical medicine, Endocrinology, Sexual Maturation, Child, 030219 obstetrics & reproductive medicine, Ribonucleoproteins, Child, Preschool, Female, Case-Control Studie, Child Nutritional Physiological Phenomena, Luteinizing hormone, Human, medicine.medical_specialty, Adolescent, medicine.drug_class, Adolescent Nutritional Physiological Phenomena, Ubiquitin-Protein Ligases, 030209 endocrinology & metabolism, Puberty, Precociou, 03 medical and health sciences, Genetic, Diabetes mellitus, Internal medicine, Genetics, medicine, Humans, Pilot Project, Preschool, Central precocious puberty, MKRN3, Puberty, Case-Control Studies, Cross-Sectional Studies, Follicle Stimulating Hormone, Luteinizing Hormone, Cross-Sectional Studie, Breast development, business.industry, Ribonucleoprotein, medicine.disease, Estrogen, Precocious, business, Body mass index, Hormone
Abstract

Purpose: Recently, mutations of makorin RING-finger protein 3 (MKRN3) have been described in familial central precocious puberty. Serum levels of this protein decline before the pubertal onset in healthy girls and boys. The aim of the study is to investigate MKRN3 circulating levels in patients with central precocious puberty. Methods: We performed an observational cross-sectional study. We enrolled 17 patients with central precocious puberty aged 7 years (range: 2–8 years) and breast development onset

Published
2017
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25. A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene

Author

Grazia Cantelmi, Emanuele Miraglia del Giudice, Anna Grandone, Caterina Luongo, Laura Perrone, Grazia Cirillo, Pierluigi Marzuillo, Grandone, Anna, Cantelmi, Grazia, Cirillo, Grazia, Marzuillo, Pierluigi, Luongo, Caterina, MIRAGLIA DEL GIUDICE, Emanuele, and Perrone, Laura

Subjects
Male, medicine.medical_specialty, Prognosi, Ubiquitin-Protein Ligases, Endocrinology, Diabetes and Metabolism, Puberty, Precocious, Case Report, Puberty, Precociou, medicine.disease_cause, Chromosome 15, Internal medicine, Humans, Medicine, Precocious puberty, Sexual Maturation, Allele, Child, Index case, Mutation, business.industry, Bone age, Ribonucleoprotein, General Medicine, Prognosis, medicine.disease, Pedigree, Endocrinology, Ribonucleoproteins, Menarche, Female, business, Genomic imprinting, Human
Abstract

Background Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated in 5 families with familial precocious puberty. The MKRN3 is a maternal imprinted gene and the phenotype is expressed only when the MKRN3 mutations are localized on the allele inherited from the father. The function of this gene is not completely known and the phenotype caused by its defect is not yet fully elucidated. We report a new MKRN3 mutation (Pro160Cysfs*14) causing familial CPP. Case presentation The index case is a 7 years old girl showing Tanner stage 3 and pubic hair stage 1. Her bone age evaluated by TW2 method was 10.3 years. Her hormonal data confirmed the diagnosis of central precocious puberty. Familial medical history revealed precocious puberty in a cousin on paternal side. Paternal grandmother had menarche at the age of 9 years and 6 months and premature menopause when she was 36 years old. Genetic analysis revealed a new mutation (c477_485del; Pro160Cysfs*14) in the maternally imprinted MKRN3. Puberty onset was at 5 years in the other affected female family member. Precocious puberty was well controlled by pharmacological therapy. Conclusion We expand the number of the MKRN3 mutations associated with CPP and highlight the importance of an accurate family medical history to disclose the peculiar pattern of inheritance of this gene.

Published
2015
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26. Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

Author

Ruggero Coppola, Federica Messa, Caterina Luongo, Anna Grandone, Emanuele Miraglia del Giudice, Domenico Cozzolino, Laura Perrone, Pierluigi Marzuillo, Adalgisa Festa, Marzuillo, P, Grandone, Anna, Coppola, R, Cozzolino, D, Festa, A, Messa, F, Luongo, C, MIRAGLIA DEL GIUDICE, Emanuele, and Perrone, Laura

Subjects
medicine.medical_specialty, Pituitary gland, Adolescent, Syrinx, Case Report, Biology, Short stature, Septo-Optic Dysplasia, Internal medicine, Genetics, medicine, Humans, Genetics(clinical), Abnormalities, Multiple, CREB-binding protein, EP300, Pituitary hypoplasia, Genetics (clinical), GH deficiency, Rubinstein-Taybi Syndrome, Rubinstein–Taybi syndrome, Point mutation, Septo-optic dysplasia, medicine.disease, CREB-Binding Protein, Arnold-Chiari Malformation, medicine.anatomical_structure, Endocrinology, Growth Hormone, Pituitary Gland, Mutation, biology.protein, CAMP binding, Arnold Chiari malformation, Female, medicine.symptom
Abstract

Background Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%). Case presentation We describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC). Conclusion We hypothesize that CREBBP mutation we have identified in this patient could be responsible also for RTS atypical features as GH deficiency and pituitary hypoplasia.

Published
2013
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27. Thyroid function derangement and childhood obesity: an Italian experience

Author

Nicola Santoro, Paolo Calabrò, Emanuele Miraglia del Giudice, Anna Grandone, Filomena Coppola, Laura Perrone, Grandone, Anna, Santoro, N., Coppola, F., Calabro', Paolo, Perrone, Laura, and MIRAGLIA DEL GIUDICE, Emanuele

Subjects
endocrine system, Pediatrics, medicine.medical_specialty, lcsh:RC648-665, endocrine system diseases, business.industry, Endocrinology, Diabetes and Metabolism, Metabolic risk, General Medicine, medicine.disease, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Childhood obesity, Autoimmune thyroiditis, Weight loss, Diabetes mellitus, Research article, medicine, Thyroid function, medicine.symptom, business, Hormone
Abstract

Background In recent years, there has been an increasing attention to thyroid function in paediatric obese patients. In the present study we aimed 1) to determine the prevalence of abnormally elevated thyroid-stimulating hormone (TSH) levels in Italian obese children and adolescents 2) to investigate whether hyperthyrotropinemia in obese children cardiovascular and metabolic risk factors 3) to verify if TSH elevation is reversible after weight loss. Methods We examined 938 obese children and adolescents (450 females). Anthropometric, metabolic and hormonal variables were determined at baseline and, in a subgroup of children with hyperthyrotropinemia, after a six month weight loss program. Results Hyperthyrotropinemia (TSH ≥4.2 μUI/ml) was diagnosed in 120 patients (12,8%). Body mass index (BMI) z-score (p = 0.02) and free T3 (fT3) levels (p = 0.03) were higher in patients with elevated TSH compared to the group with normal TSH. There were not significant differences in other metabolic parameters between the two groups. A positive correlation between baseline TSH and BMI z-score (p = 0.0045) and between Ft3 and BMI z-score (p = 0.0034) was observed, while there was no correlation between TSH and lipids. Twenty-three patients among those with hyperthyrotropinemia who participated to weight reduction intervention (64 patients), presented substantial weight loss and concomitantly a significant decrease in TSH and in fT3. Conclusions These results suggest that: (1) a moderate elevation of TSH concentrations, is frequently found in obese children; (2) in obese children increase of TSH is not associated to metabolic risk factors, (3) hyperthyrotropinemia is reversible after weight loss and these data suggest that it should not be treated.

Published
2010
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28. Impaired zine metabolic status in children affected by idiopathic nephrotic syndrome

Author

G. Gialanella, V. Giordano, L. Perrone, R. Di Toro, R. Moro, A. La Manna, Perrone, Laura, Gialanella, G, Giordano, V, LA MANNA, A, Moro, R, and DI TORO, R.

Subjects
Male, medicine.medical_specialty, Erythrocytes, Nephrotic Syndrome, Adolescent, Urinary system, chemistry.chemical_element, Renal function, Zinc, Urine, Excretion, Adrenal Cortex Hormones, Internal medicine, Humans, Medicine, Child, Body surface area, Proteinuria, business.industry, medicine.disease, Endocrinology, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Zinc deficiency, Calcium, Drug Therapy, Combination, Female, medicine.symptom, business, Hair
Abstract

Zinc content of serum, hair and erythrocytes, urinary zinc excretion, zinc clearance (CZn) and the ratio of CZn to creatinine clearance (CCr) (CZn/CCr) were measured in 32 children aged between 2.1 and 14.4 years suffering from idiopathic nephrotic syndrome (INS) without renal failure (CCr greater than 70 ml/min 1.73 m2 body surface area). Nineteen subjects had proteinuria and the remaining 13 were in remission. All children received calcium and vitamin D supplementation while on steroid therapy. There was high dietary zinc and protein intake. The results were compared with those obtained from 19 healthy subjects (aged 2-14 years). Zinc concentration in serum, erythrocytes and urine were measured by a colourimetric method. Proton induced X-ray emission was used to determine zinc content in hair. In patients both with and without proteinuria, the mean contents of serum, hair and erythrocytes were significantly lower than in the control group. The urinary zinc excretion, CZn and CZn/CCr in INS children were significantly higher than in the control group. A positive correlation was found between urinary zinc and protein excretion. In spite of high dietary zinc intake and normal intestinal absorption, children with INS had a zinc deficiency. This was probably caused by an increased urinary zinc loss.

Published
1990
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