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2. Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study

Author

Cappa, M., Iughetti, L., Loche, S., Maghnie, M., Vottero, A., Antoniazzi, Franco, Beccaria, Luciano, Bernasconi, Sergio, Caggiano, Domenico, Caruso-Nicoletti, Manuela, Catucci, Alessandra, Chiarelli, Francesco, Cianfarani, Stefano, Colucci, Anna Rita, De Rienzo, Francesca, Di Pumpo, Raffaele, Di Stasio, Alessandra, Farello, Giovanni, Felici, Leonardo, Femiano, Pasquale, Garagantini, Luigi, Giavoli, Claudia, Greggio, Nella Augusta, Guazzarotti, Laura, Larizza, Daniela, Licenziati, Maria Rosaria, Lonero, Antonella, Maggio, Maria Cristina, Marsciani, Alberto, Matarazzo, Patrizia, Mazzanti, Laura, Messini, Beatrice, Napoli, Flavia, Pasquino, Anna Maria, Perrone, Laura, Pilia, Sabrina, Pilotta, Alba, Piran, Marzia, Pozzobon, Gabriella, Predieri, Barbara, Sacco, Michele, Salerno, Mariacarolina, Tirendi, Antonina, Ubertini, Graziamaria, Vannelli, Silvia, Wasniewska, Malgorzata, Zampolli, Maria, Zanotti, Martina, Zuccotti, Gianvincenzo, and GeNeSIS National Board on behalf of the GeNeSIS Italian Investigators

Published
2016
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3. Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort

Author

De Rienzo, Francesca, Mellone, Simona, Bellone, Simonetta, Babu, Deepak, Fusco, Ileana, Prodam, Flavia, Petri, Antonella, Muniswamy, Ranjith, De Luca, Filippo, Salerno, Mariacarolina, Momigliano-Richardi, Patricia, Bona, Gianni, Giordano, Mara, Ambrosio, Maria Rosaria, Beccaria, Luciano, Bernasconi, Sergio, Bozzola, Mauro, Buzi, Fabio, Capalbo, Donatella, Cavallo, Luciano, DʼAvanzo, Maria Gabriella, De Feo, Maria Laura, De Filippo, Gianpaolo, Genoni, Giulia, Ghigo, Ezio, Guazzarotti, Laura, Moro, Mirella, Loche, Sandro, Messina, Maria Francesca, Pasquino, Anna Maria, Pocecco, Mauro, Pozzobon, Gabriella, Razzore, Paola, Salerno, Maria Carolina, Saggese, Giuseppe, Sposito, Maddalena, Strisciuglio, Pietro, Tonini, Giorgio, Vigneri, Riccardo, and Weber, Giovanna

Published
2015
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4. Medios, agendas y periodismo en la construcción de la realidad.

Author

González, Sebastián, Poliszuk, Sandra Elizabeth, Barbieri, Ariel Darío, Del Valle Rojas, Carlos Felimer, Aruguete, Natalia, Rost, Alejandro Rafael, Becerra, Martín, Zunino, Esteban, Focas, Brenda, Kessler, Gabriel, Retegui, Lorena Marisol, Carboni, Ornela Vanina, Rodríguez Miranda, Carla, Koziner, Nadia Sabrina, Sandoval, Luis Ricardo, Pichl, Daniel Enrique, Latorre Mansilla, Víctor Fabián, Bernardi, María Teresa, Beccaria, Luciano Martín, Cabral, María Cristina, Ponce, Gisela Maribel, Ros, Delcia Beatriz Myriam, Mingardi Minetti, Milka Carolina, Saravia, Víctor, Uriarte, Cecilia, Beccaría, Luciano, Raimondo Anselmino, Natalia, Sánchez, Fernanda, Relmuán, Valeria, Mandado, Sheila, Vazquez, Luciana, Luengo, Claudia, Pereyra, Milton, López Fagundez, Glenderson, González, Sebastián, Poliszuk, Sandra Elizabeth, Barbieri, Ariel Darío, Del Valle Rojas, Carlos Felimer, Aruguete, Natalia, Rost, Alejandro Rafael, Becerra, Martín, Zunino, Esteban, Focas, Brenda, Kessler, Gabriel, Retegui, Lorena Marisol, Carboni, Ornela Vanina, Rodríguez Miranda, Carla, Koziner, Nadia Sabrina, Sandoval, Luis Ricardo, Pichl, Daniel Enrique, Latorre Mansilla, Víctor Fabián, Bernardi, María Teresa, Beccaria, Luciano Martín, Cabral, María Cristina, Ponce, Gisela Maribel, Ros, Delcia Beatriz Myriam, Mingardi Minetti, Milka Carolina, Saravia, Víctor, Uriarte, Cecilia, Beccaría, Luciano, Raimondo Anselmino, Natalia, Sánchez, Fernanda, Relmuán, Valeria, Mandado, Sheila, Vazquez, Luciana, Luengo, Claudia, Pereyra, Milton, and López Fagundez, Glenderson

Abstract

¿Quiénes intervienen en los temas que afectan el interés común? ¿Quiénes pueden hacerse visibles en los medios? ¿Quiénes son objeto de exposición y quiénes sujetos de enunciación? Esta obra contribuye a la investigación de la comunicación, la reflexión contextual, la elaboración de matrices de análisis y la articulación de perspectivas de estudio diversas.

Published
2019

5. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy

Author

Bonfanti, Riccardo, primary, Iafusco, Dario, additional, Rabbone, Ivana, additional, Diedenhofen, Giacomo, additional, Bizzarri, Carla, additional, Patera, Patrizia Ippolita, additional, Reinstadler, Petra, additional, Costantino, Francesco, additional, Calcaterra, Valeria, additional, Iughetti, Lorenzo, additional, Savastio, Silvia, additional, Favia, Anna, additional, Cardella, Francesca, additional, Lo Presti, Donatella, additional, Girtler, Ylenia, additional, Rabbiosi, Sarah, additional, D’Annunzio, Giuseppe, additional, Zanfardino, Angela, additional, Piscopo, Alessia, additional, Casaburo, Francesca, additional, Pintomalli, Letizia, additional, Russo, Lucia, additional, Grasso, Valeria, additional, Minuto, Nicola, additional, Mucciolo, Mafalda, additional, Novelli, Antonio, additional, Marucci, Antonella, additional, Piccini, Barbara, additional, Toni, Sonia, additional, Silvestri, Francesca, additional, Carrera, Paola, additional, Rigamonti, Andrea, additional, Frontino, Giulio, additional, Trada, Michela, additional, Tinti, Davide, additional, Delvecchio, Maurizio, additional, Rapini, Novella, additional, Schiaffini, Riccardo, additional, Mammì, Corrado, additional, Barbetti, Fabrizio, additional, _, _, additional, Aloe, Monica, additional, Amadeo, Simona, additional, Arnaldi, Claudia, additional, Bassi, Marta, additional, Beccaria, Luciano, additional, Benelli, Marzia, additional, Maria Berioloi, Giulia, additional, Bertelli, Enrica, additional, Biagioni, Martina, additional, Bobbio, Adriana, additional, Boccato, Stefano, additional, Bologna, Oriana, additional, Bontempi, Franco, additional, Bonura, Clara, additional, Bracciolini, Giulia, additional, Brufani, Claudia, additional, Bruzzi, Patrizia, additional, Buono, Pietro, additional, Cardani, Roberta, additional, Cardinale, Giuliana, additional, Casertano, Alberto, additional, Cristina Castiglione, Maria, additional, Cauvin, Vittoria, additional, Cherubini, Valentino, additional, Chiarelli, Franco, additional, Chiari, Giovanni, additional, Cianfarani, Stefano, additional, Cirillo, Dante, additional, Citriniti, Felice, additional, Coccioli, Susanna, additional, Cogliardi, Anna, additional, Confetto, Santino, additional, Contreas, Giovanna, additional, Corò, Anna, additional, Corsini, Elisa, additional, Cresta, Nicoletta, additional, De Berardinis, Fiorella, additional, De Donno, Valeria, additional, De Filippo, Giampaolo, additional, De Marco, Rosaria, additional, Deodati, Annalisa, additional, Faleschini, Elena, additional, Fattorusso, Valentina, additional, Favalli, Valeria, additional, Felappi, Barbara, additional, Ferrito, Lucia, additional, Fichera, Graziella, additional, Fontana, Franco, additional, Fornari, Elena, additional, Franceschi, Roberto, additional, Franco, Francesca, additional, Franzese, Adriana, additional, Paola Frongia, Anna, additional, Gaiero, Alberto, additional, Gallo, Francesco, additional, Gargantini, Luigi, additional, Giani, Elisa, additional, Giorgetti, Chiara, additional, Bianchi, Giulia, additional, Graziani, Vanna, additional, Gualtieri, Antonella, additional, Guasti, Monica, additional, Iannicelli, Gennaro, additional, Iannilli, Antonio, additional, Giovanna, Ignaccolo, additional, Ingletto, Dario, additional, Innaurato, Stefania, additional, Inzaghi, Elena, additional, Iovane, Brunella, additional, Kaufmann, Peter, additional, La Loggia, Alfonso, additional, Lapolla, Rosa, additional, Lasagni, Anna, additional, Lazzaro, Nicola, additional, Lenzi, Lorenzo, additional, Lera, Riccardo, additional, Levantini, Gabriella, additional, Lombardo, Fortunato, additional, Lonero, Antonella, additional, Longhi, Silvia, additional, Lucchesi, Sonia, additional, Paola Guerraggio, Lucia, additional, Lucieri, Sergio, additional, Macellaro, Patrizia, additional, Maffeis, Claudio, additional, Mainetti, Bendetta, additional, Maltoni, Giulio, additional, Mameli, Chiara, additional, Mammì, Francesco, additional, Luisa Manca-Bitti, Maria, additional, Manco, Melania, additional, Marino, Monica, additional, Mariano, Matteo, additional, Marigliano, Marco, additional, Marsciani, Alberto, additional, Mastrangelo, Costanzo, additional, Cristina Matteoli, Maria, additional, Mazzali, Elena, additional, Meschi, Franco, additional, MIgliaccio, Antonella, additional, Morandi, Anita, additional, Morganti, Gianfranco, additional, Mozzillo, Enza, additional, Musolino, Gianluca, additional, Nugnes, Rosa, additional, Ortolani, Federica, additional, Pardi, Daniela, additional, Pascarella, Filomena, additional, Passanisi, Stefano, additional, Pedini, Annalisa, additional, Pennati, Cristina, additional, Perrotta, Angelo, additional, Peruzzi, Sonia, additional, Peverelli, Paola, additional, Pezzino, Giulia, additional, Claudia Piona, Anita, additional, Piredda, Gavina, additional, Pistone, Carmelo, additional, Prandi, Elena, additional, Pedieri, Barbara, additional, Di Bonito, Procolo, additional, Pulcina, Anna, additional, Quinci, Maria, additional, Randazzo, Emioli, additional, Ricciardi, Rossella, additional, Ripoli, Carlo, additional, Roppolo, Rosanna, additional, Rutigliano, Irene, additional, Sabbio, Alberto, additional, salardi, Silvana, additional, Salvatoni, Alessandro, additional, Saporiti, Anna, additional, Sardi, Rita, additional, Scanu, Mariapiera, additional, Scaramuzza, Andrea, additional, Eleonardo Schiven, ,, additional, Secco, Andrea, additional, Sessa, Linda, additional, Sogno Valin, Paola, additional, Sordelli, Silvia, additional, Spallino, Luisa, additional, Stagi, Stefano, additional, Stamati, Filomena, additional, Suprani, Tosca, additional, Talarico, Valentina, additional, Timapanaro, Tiziana, additional, Tirendi, Antonella, additional, Tomaselli, Letizia, additional, Tornese, Gianluca, additional, Andrea Trettene, Adolfo, additional, Tumini, Stefano, additional, Valerio, Giuliana, additional, Ventrici, Claudia, additional, Viscardi, Matteo, additional, Zaffani, Silvana, additional, Zampolli, Maria, additional, Zanette, Giorgio, additional, Zecchino, Clara, additional, Antonietta Zedda, Maria, additional, Zonca, Silvia, additional, and Zucchini, Stefano, additional

Published
2021
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6. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus

Author

Colombo, Carlo, Porzio, Ottavia, Liu, Ming, Massa, Ornella, Vasta, Mario, Salardi, Silvana, Beccaria, Luciano, Monciotti, Carla, Toni, Sonia, Pedersen, Oluf, Hansen, Torben, Federici, Luca, Pesavento, Roberta, Cadario, Francesco, Federici, Giorgio, Ghirri, Paolo, Arvan, Peter, Iafusco, Dario, and Barbetti, Fabrizio.

Subjects
Diabetes -- Genetic aspects, Pancreatic beta cells -- Health aspects, Pancreatic beta cells -- Research, Gene mutations -- Complications and side effects, Gene mutations -- Research, Infants (Newborn) -- Diseases, Infants (Newborn) -- Genetic aspects, Infants (Newborn) -- Risk factors
Abstract

Permanent neonatal diabetes mellitus (PNDM) is a rare disorder usually presenting within 6 months of birth. Although several genes have been linked to this disorder, in almost half the cases documented in Italy, the genetic cause remains unknown. Because the Akita mouse bearing a mutation in the Ins2 gene exhibits PNDM associated with pancreatic [beta] cell apoptosis, we sequenced the human insulin gene in PNDM subjects with unidentified mutations. We discovered 7 heterozygous mutations in 10 unrelated probands. In 8 of these patients, insulin secretion was detectable at diabetes onset, but rapidly declined over time. When these mutant proinsulins were expressed in HEK293 cells, we observed defects in insulin protein folding and secretion. In these experiments, expression of the mutant proinsulins was also associated with increased Grp78 protein expression and XBP1 mRNA splicing, 2 markers of endoplasmic reticulum stress, and with increased apoptosis. Similarly transfected INS-1E insulinoma cells had diminished viability compared with those expressing WT proinsulin. In conclusion, we find that mutations in the insulin gene that promote proinsulin misfolding may cause PNDM., Introduction Neonatal diabetes is a rare monogenic disorder associated with defects of pancreatic [beta] cell mass and/or function. The disorder is distinguished by 2 clinical variants--transient and permanent--caused by specific [...]

Published
2008

8. Migración y ciudadanía comunicacional medios, protesta y construcción política de grupos migrantes latinoamericanos en Argentina

Author

Beccaria, Luciano Martín and Halpern, Gerardo

Subjects
PRÁCTICAS COMUNICACIONALES, AMÉRICA LATINA, DERECHO DE MIGRACIÓN, RECESIÓN ECONÓMICA, MOVIMIENTO DE PROTESTA
Abstract

Tesis de Maestría En la presente tesis se propone realizar un recorrido por las luchas de los grupos migrantes de países latinoamericanos en Argentina, a través de sus medios de comunicación y de las movilizaciones en el espacio público, durante las primeras dos décadas del siglo XXI. Este trayecto pretende explicar las demandas de estos colectivos en términos de ampliación de ciudadanía, particularmente en lo referido a la construcción de ciudadanía comunicacional. La crisis política, económica y social que estalló en diciembre de 2001 en Argentina y se replicó en los años subsiguientes en varios países de América latina fue el punto inicial para la constitución de un colectivo migrante latinoamericano en tanto movimiento social transnacional, heterogéneo y solidario. Asimismo, la concurrencia de estos grupos trascendió las nacionalidades e incorporó marcas identitarias étnicas y de clase de manera complementaria. Entre las demandas del colectivo comenzó a tener relevancia la información y la comunicación como necesidades para la consecución de otros derechos. Fil: Beccaria, Luciano Martín. Universidad Nacional de San Martín. Escuela de Humanidades; Buenos Aires, Argentina.

Published
2020

11. Assessment of central adrenal insufficiency in children and adolescents with Prader–Willi syndrome

Author

Corrias, Andrea, Grugni, Graziano, Crinò, Antonino, Di Candia, Stefania, Chiabotto, Patrizia, Cogliardi, Anna, Chiumello, Giuseppe, De Medici, Clotilde, Spera, Sabrina, Gargantini, Luigi, Iughetti, Lorenzo, Luce, Antonella, Mariani, Benedetta, Ragusa, Letizia, Salvatoni, Alessandro, Andrulli, Simeone, Mussa, Alessandro, and Beccaria, Luciano

Published
2012
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12. Diagnostic Features of Thyroid Nodules in Pediatrics

Author

Corrias, Andrea, Mussa, Alessandro, Baronio, Federico, Arrigo, Teresa, Salerno, Mariacarolina, Segni, Maria, Vigone, Maria Cristina, Gastaldi, Roberto, Zirilli, Giuseppa, Tuli, Gerdi, Beccaria, Luciano, Iughetti, Lorenzo, Einaudi, Silvia, Weber, Giovanna, De Luca, Filippo, and Cassio, Alessandra

Published
2010

13. The Italian National Survey for Prader–Willi syndrome: An epidemiologic study

Author

Grugni, Graziano, Crinò, Antonino, Bosio, Laura, Corrias, Andrea, Cuttini, Marina, De Toni, Teresa, Di Battista, Eliana, Franzese, Adriana, Gargantini, Luigi, Greggio, Nella, Iughetti, Lorenzo, Livieri, Chiara, Naselli, Arturo, Pagano, Claudio, Pozzan, Giovanni, Ragusa, Letizia, Salvatoni, Alessandro, Trifirò, Giuliana, Beccaria, Luciano, Bellizzi, Maria, Bellone, Jaele, Brunani, Amelia, Cappa, Marco, Caselli, Gabriella, Cerioni, Valeria, Delvecchio, Maurizio, Giardino, Daniela, Iannì, Francesco, Memo, Luigi, Pilotta, Alba, Pomara, Cristoforo, Radetti, Giorgio, Sacco, Michele, Sanzari, Annarosa, Sartorio, Alessandro, Tonini, Giorgio, Vettor, Roberto, Zaglia, Federico, and Chiumello, Giuseppe

Published
2008
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15. Peculiar body composition in patients with Prader-Labhart-Willi syndrome

Author

Brambilla, Paolo, Bosio, Laura, Manzoni, Paola, Pietrobelli, Angelo, Beccaria, Luciano, and Chiumello, Giuseppe

Subjects
Prader-Willi syndrome -- Physiological aspects, Body composition -- Abnormalities, Obesity -- Causes of, Food/cooking/nutrition, Health
Abstract

Prader-Labhart-Willi syndrome (PWS)--characterized by severe obesity, short stature, hypogonadism, and muscle hypotonia--appears to be an interesting model for body-composition abnormalities. Twenty-seven PWS patients (15 males and 12 females) aged 6-22 y underwent total-body analysis by dual-energy X-ray photon absorptiometry (DXA). For each PWS patient two age- and sex-matched control subjects were studied: one obese subject with a relative body weight (RBW [is greater than] 120%) and body mass index (BMI) similar to that of the patient and one normal-weight subject (RBW [is less than] 120%). Percentage body fat was significantly greater in PWS patients than in obese subjects (47.4 [+ or -] 7.2% compared with 41.9 [+ or -] 9.9%, P [is less than] 0.0001) and the same difference was evident for arms and legs but not for the trunk. Lean mass was significantly lower in PWS patients (26.4 [+ or -] 8.2 kg) than in normal-weight subjects (32.9 [+ or -] 10.2 kg) and even more so than in obese subjects (40.3 [+ or -] 13.2 kg) (P [is less than] 0.0001). The most affected regions were limbs; thus, the ratio of lean mass in the trunk to that in the limbs was significantly higher in PWS patients (1.19 [+ or -] 0.15) than in obese (1.07 [+ or -] 0.13) and normal-weight (1.07 [+ or -] 0.09) subjects (P [is less than] 0.002). The ratio of fat mass to lean mass was significantly higher in PWS patients than in obese subjects (0.90 [+ or -] 0.32 and 0.74 [+ or -] 0.27, P [is less than] 0.05). Bone mineral content (BMC) was significantly lower in PWS patients (1503 [+ or -] 46 g) than in normal-weight (1876 [+ or -] 677 g) and obese (2322 [+ or -] 773 g) subjects (P [is less than] 0.0001); this difference was most pronounced in the limb region. Bone mineral density (BMD) in PWS patients (0.993 [+ or -] 0.116 g/[cm.sup.2]) did not differ significantly from that of normal-weight subjects (1.033 [+ or -] 0.147 g/[cm.sup.2]) but was significantly lower than that of obese subjects (1.154 [+ or -] 0.139 g/[cm.sup.2]). The influence of age on body composition was assessed by comparing two age subgroups ([is less than] 12 y, n = 10; and [is greater than or equal to] 12 y, n = 17). The older PWS patients had higher adiposity, lower BMC, and dramatically lower BMD. Also, the lean mass deficit increased with age so that the ratio of fat mass to lean mass was close to 1. In conclusion, PWS patients showed a peculiar body composition, to some extent similar to that found in subjects deficient in growth hormone or even to sedentary and elderly people. These results suggest the importance of an accurate analysis of body composition in PWS patients.

Published
1997

16. Influence of body composition on bone mineral content in children and adolescents

Author

Manzoni, Paola, Brambilla, Paolo, Pietrobelli, Angelo, Beccaria, Luciano, Bianchessi, Anna, Mora, Stefano, and Chiumello, Giuseppe

Subjects
Bones -- Density, Obesity in children -- Physiological aspects, Body composition -- Physiological aspects, Food/cooking/nutrition, Health
Abstract

Excess fat and fat-free mass have been extensively described in obese children, whereas few data about bone mineral content (BMC) variations are available in children. Dualenergy X-ray absorptiometry (DXA) allows a direct and accurate measurement of three body compartments (fat, lean, and BMC), subdivided into three regions (arms, trunk, and legs). The aim of our study was to evaluate the influence of body compartments on total BMC (TBMC) and regional BMC (RBMC) in obese and normal-weight subjects. Sixty-five obese and 50 normal-weight children and adolescents (age range: 5-18 y relative body weight: 160 [+ or -] 23% and 101 [+ or -] 12%, respectively), matched for sex and pubertal stage underwent a DXA total-body analysis. Obese subjects had significantly greater fat and lean compartments than normal-weight subjects (P < 0.0001). TBMC was larger in obese children (1930 [+ or -] 670 g compared with 1480 [+ or -] 490 g, P < 0.0001) as was RBMC (arms: 182 [+ or -] 81 g compared with 151 [+ or -] 65 g; trunk: 560 [+ or -] 223 g compared with 433 [+ or -] 169 g; legs: 788 [+ or -] 341 g compared with 539 [+ or -] 231 g, P < 0.0001). We found lean mass to be the best correlate with TBMC (r = 0.91 in obese and 0.94 in normal-weight children). Multiple-regression analysis confirmed lean mass as one of the major determinants of TBMC and RBMC in children. However, differences in TBMC and RBMC were no longer present after correction for age, sex, and body-composition variables. There were no differences in TBMC and RBMC between obese and normal-weight children after correction for the confounding variables age and sex.

Published
1996

21. Assessment of the hypothalamus-pituitary-adrenal axis with different corticotropin tests in adult patients with Prader-Willi syndrome

Author

Grugni, Graziano, primary, Corrias, Andrea, additional, Sartorio, Alessandro, additional, Beccaria, Luciano, additional, Bocchini, Sarah, additional, Di, Candia Stefania, additional, Fintini, Danilo, additional, Iughetti, Lorenzo, additional, Mussa, Alessandro, additional, Ragusa, Letizia, additional, Gargantini, Luigi, additional, Salvatoni, Alessandro, additional, Delvecchio, Maurizio, additional, Chiumello, Giuseppe, additional, and Crino, Antonino, additional

Published
2014
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24. Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome

Author

Carrozzo, Romeo, primary, Rossi, Elena, additional, Christian, Susan L., additional, Kittikamron, Kirk, additional, Livieri, Chiara, additional, Corrias, Andrea, additional, Pucci, Lucia, additional, Fois, Alberto, additional, Bosio, Laura, additional, Simi, Paolo, additional, Beccaria, Luciano, additional, Zuffardi, Orsetta, additional, and Ledbetter, David H., additional

Published
1997
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30. Relationship between metabolic control and HDL2-cholesterol in type I diabetic patients

Author

Beccaria, Luciano, Sommariva, Domenico, Meschi, Franco, Boga, Maria, Branchi, Adriana, Pogliaghi, Ileana, Ottomano, Cosimo, and Chiumello, Giuseppe

Abstract

Summary: The relationship of the degree of metabolic control to the serum lipoprotein pattern has been studied in 62 young insulin treated diabetic patients. Stable HbA1 and 24-h mean blood glucose, but not daily insulin dosage, were positively correlated to VLDL-TG (p<0.001) and negatively correlated to HDL2-C (p<0.05). HDL2-C was higher in patients with HbA1<10% than in patients with HbA1>10%. In 13 patients, in whom an improvement of metabolic control was achieved, a significant increase of HDL2-C was recorded after three months. Our data are consistent with the view that in insulin-treated patients, good metabolic control is associated with low VLDL-TG and high HDL2-C levels.

Published
1986
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33. Congenital adrenal hyperplasia.

Author

Spandri A, Cogliardi A, Maggi P, De Giorgi A, Masperi R, and Beccaria L

Subjects
Humans, Adrenal Hyperplasia, Congenital diagnosis, Adrenal Hyperplasia, Congenital therapy
Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition characterized by an insufficient production of cortisol and mineraloactive hormones with a consequent hyperstimulation of hypothalamo-pituitary-adrenal feedback and an increase of androgens. Although the lack of different enzymes in adrenal steroidogenesis can be responsible for different forms of the disease, the deficiency of 21-hydroxylase is the more frequent defect. It is caused by mutations in CYP21 gene located on the short arm of chromosome 6 and it causes a heterogeneous phenotype characterized by a classical form (genitalia virilization in female, early onset acute adrenal insufficiency with salt wasting, precocious pseudopuberty, signs of hyperandrogenism), or by a simple virilizing form (presence of signs of hyperandrogenism without salt-loosing crises) or by a non-classic form evidenced only by mild to moderate signs of hyperandrogenism. The diagnosis can be made by 17-hydroxyprogesterone measurement in basal and after ACTH stimulation test. Glucocorticoid and mineraloactive therapy have been proved to reduce the risk of adrenal crisis reducing the levels of androgens and controlling the symptoms of the disease.

Published
2004

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