يعرض 1 - 10 نتائج من 207 نتيجة بحث عن '"Renata Lorini"', وقت الاستعلام: 0.78s تنقيح النتائج
  1. 1
    دورية أكاديمية

    المصدر: PLoS ONE, Vol 8, Iss 2, p e57729 (2013)

    مصطلحات موضوعية: Medicine, Science

    الوصف: Type 1 diabetes is characterized by autoimmune destruction of pancreatic beta cells. The role played by autoantibodies directed against beta cells antigens in the pathogenesis of the disease is still unclear. Coxsackievirus B infection has been linked to the onset of type 1 diabetes; however its precise role has not been elucidated yet. To clarify these issues, we screened a random peptide library with sera obtained from 58 patients with recent onset type 1 diabetes, before insulin therapy. We identified an immunodominant peptide recognized by the majority of individual patients'sera, that shares homology with Coxsackievirus B4 VP1 protein and with beta-cell specific autoantigens such as phogrin, phosphofructokinase and voltage-gated L-type calcium channels known to regulate beta cell apoptosis. Antibodies against the peptide affinity-purified from patients' sera, recognized the viral protein and autoantigens; moreover, such antibodies induced apoptosis of the beta cells upon binding the L-type calcium channels expressed on the beta cell surface, suggesting a calcium dependent mechanism. Our results provide evidence that in autoimmune diabetes a subset of anti-Coxsackievirus antibodies are able to induce apoptosis of pancreatic beta cells which is considered the most critical and final step in the development of autoimmune diabetes without which clinical manifestations do not occur.

    وصف الملف: electronic resource

  2. 2
    دورية أكاديمية

    المصدر: PLoS ONE, Vol 7, Iss 1, p e29150 (2012)

    مصطلحات موضوعية: Medicine, Science

    الوصف: BACKGROUND: Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym "DIDMOAD". The WS gene, WFS1, encodes a transmembrane protein called Wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum calcium channel in pancreatic β-cells and neurons. WS is a rare disease, with an estimated prevalence of 1/550.000 children, with a carrier frequency of 1/354. The aim of our study was to determine the genotype of WS patients in order to establish a genotype/phenotype correlation. METHODOLOGY/PRINCIPAL FINDINGS: We clinically evaluated 9 young patients from 9 unrelated families (6 males, 3 females). Basic criteria for WS clinical diagnosis were coexistence of insulin-treated diabetes mellitus and optic atrophy occurring before 15 years of age. Genetic analysis for WFS1 was performed by direct sequencing. Molecular sequencing revealed 5 heterozygous compound and 3 homozygous mutations. All of them were located in exon 8, except one in exon 4. In one proband only an heterozygous mutation (A684V) was found. Two new variants c.2663 C>A and c.1381 A>C were detected. CONCLUSIONS/SIGNIFICANCE: Our study increases the spectrum of WFS1 mutations with two novel variants. The male patient carrying the compound mutation [c.1060_1062delTTC]+[c.2663 C>A] showed the most severe phenotype: diabetes mellitus, optic atrophy (visual acuity 5/10), deafness with deep auditory bilaterally 8000 Hz, diabetes insipidus associated to reduced volume of posterior pituitary and pons. He died in bed at the age of 13 years. The other patient carrying the compound mutation [c.409_424dup16]+[c.1381 A>C] showed a less severe phenotype (DM, OA).

    وصف الملف: electronic resource

  3. 3
    دورية أكاديمية

    المصدر: Pediatric Reports, Vol 1, Iss 1, Pp e6-e6 (2009)

    الوصف: Acute or perforated appendicitis within inguinal hernia is rarely encountered and it is known as Amyand’s hernia. We report on the first case occurring in a 4-year-old boy affected by permanent neonatal diabetes mellitus due to pancreatic agenesis, an extremely rare condition. The initial suspicion of inguinal hernia was confirmed by ultrasound examination of the right inguinal region which revealed omental layers inside a swollen inguinal canal; this finding and the clinical presentation allowed a prompt and appropriate surgical management. The careful evaluation of this patient and early recognition of this unique presentation of appendicitis allowed trans-hernial appendectomy and immediate herniorrhaphy. Ultrasonography played a pivotal role to reach the correct diagnosis and to start a prompt treatment.

    وصف الملف: electronic resource

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  5. 5
    دورية أكاديمية

    مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

    الوصف: Glucokinase (GCK) serves as the pancreatic glucose sensor. Heterozygous inactivating GCK mutations cause hyperglycemia, whereas activating mutations cause hypoglycemia. We studied the GCK V62M mutation identified in two families and co-segregating with hyperglycemia to understand how this mutation resulted in reduced function. Structural modeling locates the mutation close to five naturally occurring activating mutations in the allosteric activator site of the enzyme. Recombinant glutathionyl S-transferase-V62M GCK is paradoxically activated rather than inactivated due to a decreased S0.5 for glucose compared with wild type (4.88 versus 7.55 mM). The recently described pharmacological activator (RO0281675) interacts with GCK at this site. V62M GCK does not respond to RO0281675, nor does it respond to the hepatic glucokinase regulatory protein (GKRP). The enzyme is also thermally unstable, but this lability is apparently less pronounced than in the proven instability mutant E300K. Functional and structural analysis of seven amino acid substitutions at residue Val62 has identified a non-linear relationship between activation by the pharmacological activator and the van der Waals interactions energies. Smaller energies allow a hydrophobic interaction between the activator and glucokinase, whereas larger energies prohibit the ligand from fitting into the binding pocket. We conclude that V62M may cause hyperglycemia by a complex defect of GCK regulation involving instability in combination with loss of control by a putative endogenous activator and/or GKRP. This study illustrates that mutations that cause hyperglycemia are not necessarily kinetically inactivating but may exert their effects by other complex mechanisms. Elucidating such mechanisms leads to a deeper understanding of the GCK glucose sensor and the biochemistry of beta-cells and hepatocytes.

  6. 6
    دورية أكاديمية

    المساهمون: The Pennsylvania State University CiteSeerX Archives

    الوصف: This article cites 17 articles, 9 of which can be accessed free at: CONTENT ALERTS more»articles cite this article), Receive: RSS Feeds, eTOCs, free email alerts (when new

    وصف الملف: application/pdf

  7. 7

    المصدر: Allergologia et Immunopathologia. 41:288-291

    الوصف: Background Type 1 diabetes mellitus (T1DM) may be associated with allergy. It was previously reported that >20% of children with T1DM had allergic rhinitis (AR), but none was asthmatic. This finding was surprising as allergic rhinitis is frequently associated with asthma and asthma prevalence is about 10% of the general paediatric population. Thus, it was hypothesized that T1DM could protect from asthma. Objectives The aim of this preliminary study was to evaluate the pulmonary function and the response to bronchodilation testing in children, suffering from T1DM with associated AR, comparing them with a control group of children with AR alone. Methods Twenty children with T1DM and AR were compared with 59 children with AR alone; spirometry and bronchodilation testing were performed in all patients. Results There were no statistically significant differences in both “at baseline” and after bronchodilation testing about FVC, FEV 1 , and FEF 25–75 values. However, changes in “post-bronchodilator” values of FEF 25–75 (ΔFEF 25–75 ) were significantly higher in children with AR alone than in children with T1DM and AR ( p = 0.04). Conclusions This preliminary study could sustain the hypothesis that T1DM in children suffering also from AR might exert a protective effect of preventing the possible evolution in asthma.

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  9. 9
    دورية أكاديمية

    المؤلفون: Andrea Scaramuzza, Valentino Cherubini, Stefano Tumini, Riccardo Bonfanti, Pietro Buono, Francesca Cardella, Giuseppe d'Annunzio, Anna Paola Frongia, Fortunato Lombardo, Anna Carla Maria Monciotti, Ivana Rabbone, Riccardo Schiaffini, Sonia Toni, Stefano Zucchini, Giulio Frontino, Dario Iafusco, Diabetes Study Group of the Italian Society for Pediatric Endocrinology, Diabetology, Claudia Arnaldi, Patrizia Banin, Fabrizio Barbetti, Luciano Beccaria, Marzia Benelli, Rosario Berardi, Martina Biagioni, Giuliana Bianchi, Carla Bizzarri, Annalisa Blasetti, Adriana Bobbio, Stefano Boccato, Franco Bontempi, Mariella Bruzzese, Francesco Cadario, ValeriaCalcaterra, AlessandraCannata, Marco Cappa, Roberta Cardani, Giuliana Marcella Cardinale, Ines Carloni, Vincenzo Castaldo, Vittoria Cauvin, Franco Cerutti, Anna Maria Cester, Margherita Chessa, Francesco Chiarelli, Giovanni Chiari, Giuseppe Chiumello, Mario Cicchetti, Dante Cirillo, Felice Citriniti, Giuseppe Citro, Maria Susanna Coccioli, Mario Cotellessa, Antonino Crino`, Fiorella De Berardinis, Gianpaolo De Filippo, Giovanni De Giorgi, Filippo De Luca, Rosaria De Marco, Maurizio Delvecchio, Elena Faleschini, Anna Rita Fifi, Franco Fontana, Adriana Franzese, Elda Frezza, Annapaola Frongia, Alberto Gaiero, Alfonso Galderisi, Francesco Gallo, Luigi Gargantini, Silvia Ghione, Chiara Giorgetti, Antonella Gualtieri, Monica Guasti, Lucia Guerraggio, Antonio Iannilli, Dario Ingletto, Carmine Iossa, Brunella Iovene, Lorenzo Iughetti, Peter Kaufmann, Alfonso La Loggia, Nicola Lazzaro, Lorenzo Lenzi, Riccardo Lera, Rosanna Lia, Donatella Lo Presti, Renata Lorini, Sonia Lucchesi, Sergio Luceri, Simona Filomena Madeo, Claudio Maffeis, Benedetta Mainetti, Francesco Mammi, Maria Luisa Manca Bitti, Marco Marigliano, Alessandra Marinari, Anna Maria Marinaro, Gianfranco Meloni, Alberto Marsciani, Lisa Mastrangelo, Costanzo Mastrangelo, Franco Meschi, Domenico Minasi, Adelaide Minenna, Nicola Minuto, Carla maria Monciotti, Gianfranco Morganti, Enza Mozzillo, Rosa Nugnes, Emanuela Paradiso, Daniela Pardi, Bruno Pasquino, Ippolita Patrizia Patera, Cristina Pennati, Rossella Pepe, Barbara Piccini, Angelo Perrotta, Elvira Piccinno, Leonardo Pinelli, Gavina Piredda, Mauro Pocecco, Giuseppe Ponzi, Elena Prandi, Barbara Predieri, Francesco Prisco, Maria Quinci, Maria Rossella Ricciardi, Andrea Rigamonti, Carlo Ripoli, Alberto Sabbion, Silvana Salardi, Alessandro Salvatoni, Caterina Salvo, Giuseppina Salzano, Anna Saporiti, Rita Sardi, Eleonardo Schieven, Mirella Scipione, Cristina Soci, Miriam Soro, Luisa Spallino, Filomena Stamati, Tosca Suprani, Silvia Savastio, Rosa Anna Taccardi, Luis Tarchini, Letizia Tomaselli, Giorgio Tonini, Cataldo Torelli, Gianluca Tornese, Michela Trada, Giuliana Valerio, Maurizio Vanelli, Roberto Vanini, Marina Vascotto, Amedeo Vergerio, Matteo Viscardi, Silvana Zaffani, Maria Zampolli, Manuela Zanatta, Giorgio Zanette, Angela Zanfardino, Clara Zecchino, Maria Antonietta Zedda, Gian Vincenzo Zuccotti, FEDERICO, GIOVANNI

    المساهمون: Andrea, Scaramuzza, Valentino, Cherubini, Stefano, Tumini, Riccardo, Bonfanti, Pietro, Buono, Francesca, Cardella, Giuseppe, D'Annunzio, Anna Paola, Frongia, Fortunato, Lombardo, Anna Carla Maria, Monciotti, Ivana, Rabbone, Riccardo, Schiaffini, Sonia, Toni, Stefano, Zucchini, Giulio, Frontino, Dario, Iafusco, Diabetes Study Group of the Italian Society for Pediatric, Endocrinology, Diabetology, Claudia, Arnaldi, Patrizia, Banin, Fabrizio, Barbetti, Luciano, Beccaria, Marzia, Benelli, Rosario, Berardi, Martina, Biagioni, Giuliana, Bianchi, Carla, Bizzarri, Annalisa, Blasetti, Adriana, Bobbio, Stefano, Boccato, Franco, Bontempi, Mariella, Bruzzese, Francesco, Cadario, Valeriacalcaterra, Alessandracannata, Marco, Cappa, Roberta, Cardani, Giuliana Marcella, Cardinale, Ines, Carloni, Vincenzo, Castaldo, Vittoria, Cauvin, Franco, Cerutti, Anna Maria, Cester, Margherita, Chessa, Francesco, Chiarelli, Giovanni, Chiari, Giuseppe, Chiumello, Mario, Cicchetti, Dante, Cirillo, Felice, Citriniti, Giuseppe, Citro, Maria Susanna, Coccioli, Mario, Cotellessa, Antonino, Crino`, Fiorella De, Berardini, Gianpaolo De, Filippo, Giovanni De, Giorgi, Filippo De, Luca, Rosaria De, Marco, Maurizio, Delvecchio, Elena, Faleschini, Federico, Giovanni, Anna Rita, Fifi, Franco, Fontana, Adriana, Franzese, Elda, Frezza, Annapaola, Frongia, Alberto, Gaiero, Alfonso, Galderisi, Francesco, Gallo, Luigi, Gargantini, Silvia, Ghione, Chiara, Giorgetti, Antonella, Gualtieri, Monica, Guasti, Lucia, Guerraggio, Antonio, Iannilli, Dario, Ingletto, Carmine, Iossa, Brunella, Iovene, Lorenzo, Iughetti, Peter, Kaufmann, Alfonso La, Loggia, Nicola, Lazzaro, Lorenzo, Lenzi, Riccardo, Lera, Rosanna, Lia, Donatella Lo, Presti, Renata, Lorini, Sonia, Lucchesi, Sergio, Luceri, Simona Filomena, Madeo, Claudio, Maffei, Benedetta, Mainetti, Francesco, Mammi

    وصف الملف: STAMPA

    العلاقة: volume:51; issue:2; firstpage:173; lastpage:184; numberofpages:12; journal:ACTA DIABETOLOGICA; http://hdl.handle.net/11568/680265Test

  10. 10

    المساهمون: Zucchini, Stefano, Scaramuzza, Andrea E, Bonfanti, Riccardo, Buono, Pietro, Cardella, Francesca, Cauvin, Vittoria, Cherubini, Valentino, Chiari, Giovanni, D'Annunzio, Giuseppe, Frongia, Anna Paola, Iafusco, Dario, Maltoni, Giulio, Patera, Ippolita Patrizia, Toni, Sonia, Tumini, Stefano, Tornese, Gianluca, Rabbone, Ivana, Lera, R., Bobbio, A., Gualtieri, A., Piccinno, E., Zecchino, C., Pasquino, B., Felappi, B., Prandi, E., Gallo, F., Morganti, G., Ripoli, C., Cardinale, G., Ponzi, G., Castaldo, V., Stamati, F., Lo Presti, D., Tomaselli, L., Citriniti, F., Suprani, T., Bensa, M., Graziani, V., De Berardinis, F., Chiarelli, F., De Marco, R., Lazzaro, N., De Donno, V., Banin, P., Piccini, B., Lenzi, L., Mainetti, B., Coccioli, M. S., Minuto, N., Lorini, R., Trada, M., Sogno Valin, P., Beccaria, L., Lucchesi, S., Bruzzese, M., Mammì, F., Cirillo, D., Pardi, D., Taccardi, R. A., Lombardo, F., Zuccotti, G. V., Meschi, F., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, Enza., Prisco, F., Cadario, F., Savastio, S., Piredda, G., Monciotti, C., Galderisi, A., Salvo, C., Calcaterra, V., Berioli, M. G., Federico, G., Favia, A., Zanette, G., Marsciani, A., Schiaffini, R., Cappa, M., Delvecchio, M., Gaiero, A., Ignaccolo, G., Cerutti, F., Fontana, F., Guerraggio, L., Zonca, S., Franceschi, R., Tornese, G., Biagioni, M., Salvatoni, A., Cardani, R., Marigliano, M., Sabbion, A., Maffeis, C., Schieven, E., Arnaldi, C., Zucchini, S., Scaramuzza, A. E., Bonfanti, R., Buono, P., Cardella, F., Cauvin, V., Cherubini, V., Chiari, G., D'Annunzio, G., Frongia, A. P., Iafusco, D., Maltoni, G., Patera, I. P., Toni, S., Tumini, S., Rabbone, I., Mammi, F., Mozzillo, E., Prisco, Francesco

    المصدر: Journal of Diabetes Research
    Journal of Diabetes Research, Vol 2016 (2016)

    الوصف: We conducted a retrospective survey in pediatric centers belonging to the Italian Society for Pediatric Diabetology and Endocrinology. The following data were collected for all new-onset diabetes patients aged 0–18 years: DKA (pH < 7.30), severe DKA (pH < 7.1), DKA in preschool children, DKA treatment according to ISPAD protocol, type of rehydrating solution used, bicarbonates use, and amount of insulin infused. Records(n=2453)of children with newly diagnosed diabetes were collected from 68/77 centers (87%), 39 of which are tertiary referral centers, the majority of whom (n=1536, 89.4%) were diagnosed in the tertiary referral centers. DKA was observed in 38.5% and severe DKA in 10.3%. Considering preschool children, DKA was observed in 72%, and severe DKA in 16.7%. Cerebral edema following DKA treatment was observed in 5 (0.5%). DKA treatment according to ISPAD guidelines was adopted in 68% of the centers. In the first 2 hours, rehydration was started with normal saline in all centers, but with different amount. Bicarbonate was quite never been used. Insulin was infused starting from third hour at the rate of 0.05–0.1 U/kg/h in 72% of centers. Despite prevention campaign, DKA is still observed in Italian children at onset, with significant variability in DKA treatment, underlying the need to share guidelines among centers.

    وصف الملف: STAMPA; text/xhtml