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299 results on '"Boscherini B"'

19. Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome?

Author

Lucci Cordisco, Emanuela, Scommegna, S, Orteschi, Daniela, Galeazzi, D, Neri, Giovanni, Boscherini, B., Lucci Cordisco, Emanuela (ORCID:0000-0002-6279-7604), Lucci Cordisco, Emanuela, Scommegna, S, Orteschi, Daniela, Galeazzi, D, Neri, Giovanni, Boscherini, B., and Lucci Cordisco, Emanuela (ORCID:0000-0002-6279-7604)

Abstract

Anterior pituitary aplasia (APA) is a very rare cause of congenital-onset multiple pituitary hormone deficiency (CO-MPHD). We report on molecular analysis and clinical follow-up of three previously reported cases of APA [Scommegna et al., 2004], who share a characteristic physical and neuropsychological profile. Mutation analysis of genes encoding transcription factors involved in pituitary development (PROP1, POUF1, HESX1, LHX3, and LHX4) did not demonstrate a any mutation. In order to identify the genetic cause underlying the phenotypes we performed an array-based comparative genomic hybridization (array-CGH), which showed a cryptic interstitial deletion of 9p (200 kb), including the TEK and MOBKL2B, in one patient. Although an apparently identical deletion was carried by the clinically normal father, we assumed that the patient's phenotype might be due to a recessive mutation in the other allele. However, sequence analysis of exons and splice junctions of these genes did not detect pathogenic or predisposing variants in the three patients. We suggest that the constellation of clinical signs in these patients constitutes a previously undescribed syndrome, whose genetic cause has yet to be identified.

Published
2012

20. A multi-centre randomized trial of two different doses of nicotinamide in patients with recent-onset type 1 diabetes (the IMDIAB VI)

Author

Visalli, N, Cavallo, Maria Gisella, Signore, Alberto, Baroni, Mg, Buzzetti, R, Fioriti, E, Mesturino, C, Fiori, R, Lucentini, L, Sulli, Nicoletta, Matteoli, Mc, Crinò, A, Corbi, S, Spera, S, Teodonio, C, Paci, F, Amoretti, R, Pisano, L, Suraci, C, Multari, G, Cervoni, M, De Mattia, G, Faldetta, Mr, Boscherini, B, and Pozzilli, P.

Subjects
Adult, Male, Niacinamide, Adolescent, type 1 diabetes, nicotinamide, c-peptide secretion, Diabetes Mellitus, Type 1, Treatment Outcome, Double-Blind Method, insulin therapy, Child, Preschool, Sample Size, Humans, Hypoglycemic Agents, Insulin, Female, Child, Follow-Up Studies
Abstract

Intensive insulin therapy is the gold standard by which Type 1 diabetes is treated. In addition to this therapy, administration of nicotinamide (NA) can be beneficial. This concept is reinforced by the results of a recent meta-analysis of the use of NA in patients with recent-onset Type 1 diabetes.In this study we compared two different doses of NA in 74 patients with duration of Type 1 diabetes4 weeks (mean age 13 years). Patients were randomly allocated in blind to two treatment groups: 38 patients received a dose of 25 mg/kg (b.w.) of NA and 36 patients received a dose of 50 mg/kg (b.w.) of NA. Intensive insulin therapy was carried out in order to optimize metabolic control as soon as possible after diagnosis and to maintain blood glucose level as near to normal as possible. Response to therapy was monitored throughout the study by investigating the occurrence of clinical (complete) remission defined, according to the recommendations of the International Diabetes Immunotherapy Group, as restoration of normal fasting and post-prandial blood glucose without any insulin administration for more than 2 weeks. Moreover, the integrated measures of metabolic control (C-peptide, HbA(1c) and insulin dose) were analysed at 3- month intervals up to 1 year after diagnosis.There were no significant differences in the integrated measures of metabolic control between the two NA treated groups either at onset of the disease or at each 3-month interval up to 1 year after diagnosis, although there was a tendency toward higher insulin dosages in the 50 mg NA group. No significant differences were observed in the rate of clinical remission between the two groups.We conclude that patients with recent-onset Type 1 diabetes treated with two different doses of NA, in addition to intensive insulin therapy, show similar residual beta-cell function 1 year later. Since both doses of NA are likely to be effective in reducing beta-cell dysfunction, the smaller dose of 25 mg/kg NA would be sufficient as a higher dose may induce insulin resistance.

Published
1999

21. [Goiter prevalence and urinary excretion of iodine in a sample of school age children in the city of Rome]

Author

Panunzi, C, MANCA BITTI, Ml, DI PAOLO, A, Fabbrini, R, Valle, D, Spadoni, G, Del Duca, E, Guglielmi, R, Valente, M, Finocchi, A, Vitale, S, Dituri, F, Valenti, M, Bauzulli, N, Olivieri, A, Gilardi, E, D'Archivio, M, Sorcini, M, and Boscherini, B

Subjects
Male, Settore MED/38 - Pediatria Generale e Specialistica, Palpation, Adolescent, Goiter, Age Factors, Humans, Child, Thyroid Gland, Health Surveys, Rome, Iodine, Biological Markers, Female, Prevalence
Published
1998

28. COELIAC DISEASE IN TURNER SYNDROME

Author

Bonamico, M, primary, Pasquino, A M, additional, Bianchi, C, additional, Barera, G, additional, Barbera, C, additional, Rea, V, additional, Rotolo, M, additional, Caruso-Nicoletti, M, additional, D'Altilia, M, additional, Baldassarre, M, additional, Boscherini, B, additional, Scirè, G, additional, and Businco, M L, additional

Published
1999
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30. Incidence of insulin-dependent diabetes mellitus among Sardinianheritage children born in Lazio region, Italy

Author

Muntoni, Sa, primary, Fonte, MT, additional, Stoduto, S, additional, Marietti, G, additional, Bizzarri, C, additional, Crinò, A, additional, Ciampalini, P, additional, Multari, G, additional, Suppa, MA, additional, Matteoli, MC, additional, Lucentini, L, additional, Sebastiani, LM, additional, Visalli, N, additional, Pozzilli, P, additional, Boscherini, B, additional, and Muntoni, S, additional

Published
1997
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