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1,392 results on '"del Giudice Emanuele"'

353. Melanocortin-4-receptor molecular screening in a group of phenotypically selected obese children: report of two new mutation and lack of association to the early onset of the disease

Author

N. Santoro, G. Cirillo, T. Romano, A. Capaldo, P. Marzuillo, G. Morino, L. Iughetti, A. Vottero, A. Salvatoni, M. Di Pietro, E. Modestini, A. Balsamo, M. Gennari, PERRONE, Laura, A. Crinò, MIRAGLIA DEL GIUDICE, Emanuele, Santoro, N., Cirillo, G., Romano, T., Capaldo, A., Marzuillo, P., Morino, G., Iughetti, L., Vottero, A., Salvatoni, A., Di Pietro, M., Modestini, E., Balsamo, A., Gennari, M., Perrone, Laura, Crinò, A., and MIRAGLIA DEL GIUDICE, Emanuele

Published
2007

358. Le basi genetiche dell'obesità

Author

PERRONE, Laura, MIRAGLIA DEL GIUDICE, Emanuele, GIOVANNINI M. MAFFEIS C. MOLINARI E. SCAGLIONI S., Perrone, Laura, and MIRAGLIA DEL GIUDICE, Emanuele

Published
2006

364. Cannabinoid Receptor 2 as Antiobesity Target: Inflammation, Fat Storage, and Browning Modulation

Author

Rossi, Francesca, primary, Bellini, Giulia, additional, Luongo, Livio, additional, Manzo, Iolanda, additional, Tolone, Salvatore, additional, Tortora, Chiara, additional, Bernardo, Maria Ester, additional, Grandone, Anna, additional, Conforti, Antonella, additional, Docimo, Ludovico, additional, Nobili, Bruno, additional, Perrone, Laura, additional, Locatelli, Franco, additional, Maione, Sabatino, additional, and del Giudice, Emanuele Miraglia, additional

Published
2016
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365. Bisphenol A is associated with insulin resistance and modulates adiponectin and resistin gene expression in obese children

Author

Menale, Ciro, primary, Grandone, Anna, additional, Nicolucci, Carla, additional, Cirillo, Grazia, additional, Crispi, Stefania, additional, Di Sessa, Anna, additional, Marzuillo, Pierluigi, additional, Rossi, Sergio, additional, Mita, Damiano Gustavo, additional, Perrone, Laura, additional, Diano, Nadia, additional, and Miraglia Del Giudice, Emanuele, additional

Published
2016
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366. Effect of coexisting arterial hypertension and obesity on myocardial deformation properties in a pediatric population

Author

DI SALVO, Giovanni, Pacileo G, Natale F, Verrengia M, Rea A, Miele T, Caso P, MIRAGLIA DEL GIUDICE, Emanuele, RUSSO, Maria Giovanna, PERRONE, Laura, Calabro’ R., LIMONGELLI, Giuseppe, DI SALVO, Giovanni, Pacileo, G, Natale, F, Verrengia, M, Limongelli, Giuseppe, Rea, A, Miele, T, Caso, P, MIRAGLIA DEL GIUDICE, Emanuele, Russo, Maria Giovanna, Perrone, Laura, and Calabro’, R.

Published
2005

368. Aspetti Genetici

Author

PERRONE, Laura, MIRAGLIA DEL GIUDICE, Emanuele, DEL GIUDICE, N. SANTORO, P. RAIMONDO, LORENZO LUGHETTI,SERGIO BERNASCONI, Perrone, Laura, MIRAGLIA DEL GIUDICE, Emanuele, Del, Giudice, N., Santoro, and P., Raimondo

Published
2005

376. Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis

Author

DANISE P, AMENDOLA G, NOBILI, Bruno, PERROTTA, Silverio, MIRAGLIA DEL GIUDICE, Emanuele, MATARESE, SM, IOLASCON A, BRUGNARA C., Danise, P, Amendola, G, Nobili, Bruno, Perrotta, Silverio, MIRAGLIA DEL GIUDICE, Emanuele, Matarese, Sm, Iolascon, A, and Brugnara, C.

Subjects
dyserythropoietic, Adult, Erythrocyte Indices, Family Health, Erythrocytes, Reticulocytes, Adolescent, Spherocytosis, Hereditary, Middle Aged, Flow Cytometry, congenital spherocytosi, Diagnosis, Differential, Liver Function Tests, Child, Preschool, Humans, Child, Anemia, Dyserythropoietic, Congenital
Abstract

Congenital dyserythropoietic anaemia type II (CDA II) is the most common congenital dyserythropoietic anaemia. CDA II is frequently misdiagnosed as Hereditary Spherocytosis (HS) due to the presence of mild chronic haemolytic anaemia with splenomegaly, increased osmotic fragility, and presence of microspherocytes. Accurate diagnosis of CDA II is important to prevent severe iron overload. Erythrocyte and reticulocyte indices were assessed in 10 patients from six families with CDA II, 18 patients from eight families with HS, and 50 normal controls. Characteristic increases in distribution width were present in CDA II for cell volume (RDW, anisocytosis) and in HS for cell haemoglobin concentration (HDW, anisochromia), resulting in an RDW/HDW ratio which was significantly greater in CDA than HS (P < 0.0002). A cut-off value for RDW/HDW of 5.34 resulted in 89% sensitivity and 70% specificity in distinguishing CDA II from HS. Distribution width for cell haemoglobin content of reticulocytes (CHDWr) was characteristically increased in CDA II, resulting in a CHDW/CHDWr ratio significantly lower in CDA II than HS (P < 0.0002). A cut-off value of 0.98 provided 89% sensitivity and 80% specificity in distinguishing CDA II from HS. These differences in distribution widths of flow-cytometric parameters of reticulocytes and mature erythrocytes reflect the different pathogeneses of the two diseases and are helpful for the differential diagnosis of these two conditions.

Published
2001

377. Molecular screening of the proopiomelanocortin (POMC ) gene in Italian obese children: report of three new mutations

Author

MIRAGLIA DEL GIUDICE, Emanuele, CIRILLO G, SANTORO N, D'URSO L, CARBONE MT, DI TORO, R, PERRONE, Laura, MIRAGLIA DEL GIUDICE, Emanuele, Cirillo, G, Santoro, N, D'Urso, L, Carbone, Mt, Di, Toro, R, and Perrone, Laura

Subjects
Adult, Leptin, Male, endocrine system, medicine.medical_specialty, Heterozygote, Pro-Opiomelanocortin, Adolescent, Endocrinology, Diabetes and Metabolism, Prohormone, Mutation, Missense, Medicine (miscellaneous), Protein Sorting Signals, medicine.disease_cause, Polymerase Chain Reaction, Genetic determinism, Translocation, Genetic, law.invention, Body Mass Index, Proopiomelanocortin, law, Internal medicine, medicine, Humans, Obesity, Child, Codon, Gene, Molecular Biology, Polymerase chain reaction, Polymorphism, Single-Stranded Conformational, Genetics, Mutation, Nutrition and Dietetics, biology, business.industry, digestive, oral, and skin physiology, Heterozygote advantage, Endocrinology, nervous system, Italy, Child, Preschool, biology.protein, Female, business, hormones, hormone substitutes, and hormone antagonists, medicine.drug
Abstract

Although linkage studies strongly suggest that proopiomelanocortin (POMC) alterations could play a role in the genetic predisposition to obesity, systematic POMC mutational analysis did not completely confirm this hypothesis.To verify the presence of mutations of the POMC coding region in Italian children with very early onset obesity.Eighty seven unrelated Italian obese children and adolescents were studied. Mean age at obesity onset was 4.7+/-2.5 y. The POMC gene coding region was screened using single-strand conformation polymorphism (SSCP) analysis. Bi-directional automatic sequencing of PCR products was performed for all individuals who showed an aberrant SSCP pattern.Three new mutations have been identified in the heterozygous state in three patients: (a) G3834C, resulting in the substitution of Ser with Thr at codon 7 within the POMC signal peptide; (b) C3840T, resulting in the substitution of Ser with Leu at codon 9 of the pre-proopiomelanocortin signal peptide; and (c) C7406G, producing the substitution of Arg with Gly at codon 236 within the beta-endorphin peptide. A polymorphism consisting of a 9 bp insertion, AGC AGC CGC, between position 6997 and 6998 has been found at the heterozygous state in nine patients. They showed leptin levels adjusted for BMI, gender and pubertal stage significantly higher than obese subjects homozyous for the POMC wild-type allele.Mutations in codons 7 and 9 of the signal peptide may alter the translocation of the pre-proopiomelanocortin into the endoplasmic reticulum and, therefore, can be implicated in obesity. Although further studies are required, the polymorphism between position 6997 and 6998 may represent one of the genetic variations that explain the linkage between obesity and POMC. International Journal of Obesity (2001) 25, 61-67

Published
2001

378. Sequential analyses of HBV core promoter and precore regions in cancer survivor patients with chronic hepatitis B before, during and after interferon treatment

Author

ZAMPINO, Rosa, MARRONE, Aldo, Cirillo G, MIRAGLIA DEL GIUDICE, Emanuele, Bellopede P, Andreana A, Marracino M, UTILI, Riccardo, Karayiannis P, Ruggiero G., Zampino, Rosa, Marrone, Aldo, G., Cirillo, MIRAGLIA DEL GIUDICE, Emanuele, P., Bellopede, A., Andreana, M., Marracino, Utili, Riccardo, P., Karayianni, G., Ruggiero, Cirillo, G, Bellopede, P, Andreana, A, Marracino, M, Karayiannis, P, and Ruggiero, G.

Published
2000

379. ESPHI working group on hemolytic anemias. Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis

Author

TCHERNIA G, DELHOMMEAU F, PERROTTA, Silverio, CYNOBER T, BADER MEUNIER B, NOBILI, Bruno, ROHRLICH P, SALOMON JL, SAGOT BEVENOT S, DELAUNAY J, DEMATTIA D, SCHISCHMANOFF PO, MOHANDAS N, IOLASCON A., MIRAGLIA DEL GIUDICE, Emanuele, Tchernia, G, Delhommeau, F, Perrotta, Silverio, Cynober, T, BADER MEUNIER, B, Nobili, Bruno, Rohrlich, P, Salomon, Jl, SAGOT BEVENOT, S, MIRAGLIA DEL GIUDICE, Emanuele, Delaunay, J, Demattia, D, Schischmanoff, Po, Mohandas, N, and Iolascon, A.

Published
2000

381. GILBERT'S SYNDROME ACCOUNTS FOR THE PHENOTYPIC VARIABILITY OF CDA-II

Author

PERROTTA, Silverio, MIRAGLIA DEL GIUDICE, Emanuele, CARBONE R., SERVEDIO V., SCHETTINI F., IOLASCON A., NOBILI, Bruno, Perrotta, Silverio, MIRAGLIA DEL GIUDICE, Emanuele, Carbone, R., Servedio, V., Schettini, F., Nobili, Bruno, and Iolascon, A.

Published
2000

382. Mutazioni delle regioni core-promoter e pre-core di HBV in pazienti con pregressa malattia oncologica affetti da epatite cronica B prima, durante e dopo trattamento con interferone

Author

ZAMPINO, Rosa, MARRONE, Aldo, G. Cirillo, MIRAGLIA DEL GIUDICE, Emanuele, P. Bellopede, A. Andreana, M. Marracino, UTILI, Riccardo, P. Karayannis, G. Ruggiero, Zampino, Rosa, Marrone, Aldo, G., Cirillo, MIRAGLIA DEL GIUDICE, Emanuele, P., Bellopede, A., Andreana, M., Marracino, Utili, Riccardo, P., Karayanni, and G., Ruggiero

Published
2000

383. Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature

Author

Grandone, Anna, primary, Del Vecchio Blanco, Francesca, additional, Torella, Annalaura, additional, Caruso, Manuela, additional, De Luca, Filippo, additional, Di Mase, Raffaella, additional, Messina, Maria Francesca, additional, Salerno, Maria Carolina, additional, Sallemi, Alessia, additional, Perone, Lucia, additional, Marzuillo, Pierluigi, additional, Miraglia Del Giudice, Emanuele, additional, Nigro, Vincenzo, additional, and Perrone, Laura, additional

Published
2016
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384. TM6SF2 E167K variant predicts severe liver fibrosis for human immunodeficiency/hepatitis C virus co-infected patients, and severe steatosis only for a non-3 hepatitis C virus genotype

Author

Sagnelli, Caterina, primary, Merli, Marco, additional, Uberti-Foppa, Caterina, additional, Hasson, Hamid, additional, Grandone, Anna, additional, Cirillo, Grazia, additional, Salpietro, Stefania, additional, Minichini, Carmine, additional, Starace, Mario, additional, Messina, Emanuela, additional, Morelli, Patrizia, additional, Miraglia Del Giudice, Emanuele, additional, Lazzarin, Adriano, additional, Coppola, Nicola, additional, and Sagnelli, Evangelista, additional

Published
2016
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390. Subclinical Myocardial Dysfunction and Cardiac Autonomic Dysregulation Are Closely Associated in Obese Children and Adolescents: The Potential Role of Insulin Resistance

Author

Cozzolino, Domenico, primary, Grandone, Anna, additional, Cittadini, Antonio, additional, Palmiero, Giuseppe, additional, Esposito, Giovanni, additional, De Bellis, Annamaria, additional, Furlan, Raffaello, additional, Perrotta, Silverio, additional, Perrone, Laura, additional, Torella, Daniele, additional, and Miraglia del Giudice, Emanuele, additional

Published
2015
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391. Le anemie diseritropoietiche

Author

Iolascon A, Servedio V, Moretti A, Carbone R, PERROTTA, Silverio, NOBILI, Bruno, Gasparini P., MIRAGLIA DEL GIUDICE, Emanuele, Iolascon, A, Servedio, V, Moretti, A, Carbone, R, MIRAGLIA DEL GIUDICE, Emanuele, Perrotta, Silverio, Nobili, Bruno, and Gasparini, P.

Published
1999

392. Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: band 3 Vesuvio

Author

PERROTTA, Silverio, POLITO F, CONE ML, NOBILI, Bruno, CUTILLO S, NIGRO, Vincenzo, IOLASCON A, AMENDOLA, G, MIRAGLIA DEL GIUDICE, Emanuele, Perrotta, Silverio, Polito, F, Cone, Ml, Nobili, Bruno, Cutillo, S, Nigro, Vincenzo, Iolascon, A, Amendola, G, and MIRAGLIA DEL GIUDICE, Emanuele

Subjects
Italy, Reverse Transcriptase Polymerase Chain Reaction, Anion Exchange Protein 1, Erythrocyte, Humans, RNA, Messenger, Spherocytosis, Hereditary, Child, Frameshift Mutation, Polymorphism, Single-Stranded Conformational
Published
1999

394. Low prevalence of impaired fasting glucose in obese adolescents from Southern Europe

Author

Grandone, Anna, Amato, Alessandra, Miraglia del Giudice, Emanuele, Perrone, Laura, Williams, Desmond E., Cadwell, Betsy L., Cheng, Yiling J., Gregg, Edward W., Geiss, Linda S., Engelgau, Michael M., Narayan, K.M. Venkat, Imperatore, Giuseppina, and Cowie, Catherine C.

Abstract

To the Editor.-- We read with great interest the article by Williams et al, (1) which revealed a very high prevalence (7%) of impaired fasting glucose (IFG) among US adolescents [...]

Published
2006

396. Improvement of glucose homeostasis after weight loss in obese children

Author

Santoro, Nicola, Di Nardo, Michele, Amato, Alessandra, Perrone, Laura, del Giudice, Emanuele Miraglia, Reinehr, Thomas, Andler, Werner, Kiess, Wieland, and Kapellen, Thomas

Subjects
Obesity in children -- Observations, Diabetes in children -- Observations, Glucose intolerance -- Observations
Abstract

To the Editor.-- We read with great interest the Pediatrics article by Reinehr et al. (1) The authors provided important information about the changes in insulin sensitivity in obese children [...]

Published
2005

398. The Italian survey on hereditary spherocytosis

Author

Pinto, L, Iolascon, A., Matarese, S. M. R., Nobili, B, Perrotta, S., MIRAGLIA DEL GIUDICE, Emanuele, Pinto, L, Iolascon, A., MIRAGLIA DEL GIUDICE, Emanuele, Matarese, S. M. R., Nobili, B, and Perrotta, S.

Published
1995

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

Author

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, and Perrone, Laura

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 <8 years; 17 prepubertal control age-matched patients aged 6.3 years (2-8.2); and 10 pubertal stage-matched control patients aged 11.4 years (9-14). Serum values of MKRN3, gonadotropins, (17)estradiol and Anti-Müllerian Hormone were evaluated and the MKRN3 genotyped in central precocious puberty patients. Results: No MKRN3 mutation was found among central precocious puberty patients. MKRN3 levels were lower in patients with central precocious puberty compared to prepubertal age-matched ones (p: 0.0004) and comparable to those matched for pubertal stage. MKRN3 levels were inversely correlated to Body Mass Index Standard Deviations ( r:−0.35; p:0.02), Luteinizing Hormone ( r:−0.35; p:0.03), FSH ( r:−0.37; p:0.02), and (17)estradiol ( r: −0.36; p:0.02). Conclusions: We showed that girls with central precocious puberty had lower peripheral levels of MKRN3 compared to age-matched pairs and that they negatively correlated to gonadotropins, estrogen, and BMI. Our findings support the MKRN3 involvement in central precocious puberty also in absence of deleterious mutations, although our sample size is small. In addition our data suggest the role of MKRN3 in the complex mechanism controlling puberty onset and its interaction with other factors affecting puberty such as nutrition. [ABSTRACT FROM AUTHOR]

Published
2018
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400. Childhood obesity classification systems and cardiometabolic risk factors: a comparison of the Italian, World Health Organization and International Obesity Task Force references.

Author

Valerio, Giuliana, Balsamo, Antonio, Baroni, Marco Giorgio, Brufani, Claudia, Forziato, Claudia, Grugni, Graziano, Licenziati, Maria Rosaria, Maffeis, Claudio, Miraglia Del Giudice, Emanuele, Morandi, Anita, Pacifico, Lucia, Sartorio, Alessandro, and Manco, Melania

Subjects
BODY weight, CARDIOVASCULAR diseases risk factors, CHILDHOOD obesity, T-test (Statistics), BODY mass index, CROSS-sectional method, RETROSPECTIVE studies, DATA analysis software, DESCRIPTIVE statistics, ODDS ratio
Abstract

Background: Body Mass Index Italian reference data are available for clinical and/or epidemiological use, but no study compared the ability of this system to classify overweight and obesity and detect subjects with clustered cardiometabolic risk factors with international standards. Therefore our aim was to assess 1) the agreement among the Italian Society for Pediatric Endocrinology and Diabetology (ISPED), the World Health Organisation (WHO) and the International Obesity Task Force (IOTF) Body Mass Index cut-offs in estimating overweight or obesity in children and adolescents; 2) the ability of each above-mentioned set of cut-points to detect subjects with cardiometabolic risk factors. Methods: Data of 6070 Italian subjects aged 5-17 years were collected. Prevalence of normal-weight, overweight and obesity was determined using three classification systems: ISPED, WHO and IOTF. High blood pressure, hypertriglyceridemia, low high density lipoprotein-cholesterol and impaired fasting glucose were considered as cardiometabolic risk factors. Results: ISPED and IOTF classified more subjects as normal-weight or overweight and less subjects as obese as compared to WHO (p <0.0001) in the whole sample and in groups divided by gender and age. The strength of agreement between the three methods compared to each other was excellent for overweight (including obesity) definition (k > 0.900), while it differed for obesity definition, ranging from the highest agreement between ISPED and IOTF (k 0.875) to the lowest between ISPED and WHO (k 0.664). WHO had the highest sensitivity, while ISPED and IOTF systems had the highest specificity, in identifying obese subjects with clustered cardiometabolic risk factors. Analogous results were found in subjects stratified by gender or age. Conclusions: ISPED and IOTF systems performed similarly in assessing overweight and obesity, and were more specific in identifying obese children/adolescents with clustered cardiometabolic risk factors; on the contrary, the WHO system was more sensitive. Given the seriousness of the obesity epidemic, we wonder whether the WHO system should be preferable to the national standards for clinical practice and/or obesity screening. [ABSTRACT FROM AUTHOR]

Published
2017
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