Publications (56) View all
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Article: ZnT8 antibodies in patients with cystic fibrosis: An expression of secondary beta-cell damage?
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ABSTRACT: Cystic Fibrosis-Related Diabetes (CFRD) is caused by a severe insulin deficiency with associated different degrees of insulin resistance. Data concerning the potential impact of autoimmunity are conflicting. Ninety subjects with cystic fibrosis (CF) were tested for glucose tolerance and autoantibodies against insulin (IAA), glutamic acid decarboxylase (GADA), protein tyrosine phosphatase (IA2) and zinc transporter 8 (Znt8A). Eighty-three subjects showed a normal glucose tolerance (92.2%), 6 subjects (6.6%) impaired glucose tolerance and 1 subject (1.1%) newly diagnosed CFRD. Four subjects were found positive for both IAA and GADA (4.4%), one subject (1.1%) for both IA2 and GADA, and one subject (1.1%) for isolated GADA. Three subjects (3.3%) showed isolated ZnT8A positivity. ZnT8A positivity in CF patients is uncommon and not associated with other autoantibodies. ZnT8A may not represent a specific indicator of a primary autoimmune beta-cell destruction, but possibly the expression of a secondary damage of the pancreatic islets with autoantigen release.Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society 03/2013; · 3.19 Impact Factor -
Article: Effect of calcitriol on bone turnover and osteocalcin in recent-onset type 1 diabetes.
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ABSTRACT: Vitamin D supplementation in childhood improves the achievement of peak bone mass. We investigated the effect of supplementation with calcitriol on bone turnover in recent-onset type 1 diabetes (T1D). Moreover, the association between osteocalcin and parameters of β-cell function and metabolic control was examined. We conducted a post-hoc analysis of a double-blind, placebo-controlled study of calcitriol supplementation to preserve β-cell function. 27 recent-onset T1D subjects, mean age 22 years, were randomized to 0.25 µg calcitriol per day or placebo (1∶1) and followed up for one year. Changes in bone formation (osteoclacin) and resorption (beta-CrossLaps) markers, and differences between placebo and calcitriol-treated group were evaluated. At baseline, osteocalcin levels were significantly lower in female than in male patients (P<0.01) while no other metabolic parameters as HbA1c and C-peptide differed between gender. No significant correlations were found in relation to HbA1c, insulin requirement and C-peptide. At 1 year follow-up, no significant differences were observed between calcitriol and placebo groups for osteocalcin and β-CrossLaps. In the placebo group osteocalcin levels were unrelated with parameters of metabolic control, such as C-peptide, insulin requirement or HbA1c. Changes of C-peptide, insulin requirement and HbA1c were not related to osteocalcin levels. Supplementation with 0.25 µg calcitriol per day to patients with new-onset T1D does not affect circulating markers of bone turnover. OC levels were unrelated to β-cell function and other metabolic parameters suggesting that OC is ineffective to control pancreatic function in presence of aggressive autoimmune destruction.PLoS ONE 01/2013; 8(2):e56488. · 4.09 Impact Factor -
Article: Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche.
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ABSTRACT: Abstract Precocious pubarche (PP) is defined as the onset of pubic hair at 8 years of age in girls and at 9 years of age in boys. PP is idiopathic (IPP) in most children, but it is the earliest manifestation of non-classical congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency (NC21OHD) in 5%-20% of cases. 17-Hydroxyprogesterone (17OHP) levels after ACTH stimulation test are used to distinguish the two forms. We studied clinical indicators of NC21OHD in 289 PP children: 14 (4.8%) showed post-ACTH 17OHP levels >30 nmol/L and NC21OHD due to CYP21A2 gene mutations was confirmed. NC21OHD children were younger (p: 0.006) and thinner (p: 0.003) than IPP children. Height standard deviation score (SDS) was not different (p: 0.97). NC21OHD girls showed more advanced bone age than IPP girls (p<0.001). Earlier PP onset and bone age advance suggest NC21OHD, which requires confirmation by an ACTH stimulation test. Later, PP appearance in overweight children suggests IPP and could merit only clinical monitoring.Journal of pediatric endocrinology & metabolism: JPEM 12/2012; 25(11-12):1059-1064. · 0.88 Impact Factor -
Article: Birth weight influences the clinical phenotype and the metabolic control of patients with type 1 diabetes (T1D).
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ABSTRACT: BACKGROUND: High birth weight has been related to an increased risk of type 1 diabetes (T1D), while suboptimal birth weight (both high and low) has been related to obesity, insulin resistance and type 2 diabetes (T2D). Insulin resistance, as a consequence of poor metabolic control, has been described in T1D patients. Aims of the study were to analyze the distribution of birth size for gestational age in a large group of T1D patients and to investigate the impact of birth weight on clinical phenotype. METHODS: Six-hundred and two Caucasian T1D patients were evaluated. Small for gestational age (SGA) and large of gestational age (LGA) were defined as birth weight <3(rd) percentile or >97(th) percentile for gestational age, respectively. Birth weights between 3(rd) and 97(th) were defined as appropriate for gestational age (AGA). The clinical characteristics of SGA, AGA and LGA were compared. Multivariable linear regression models were fitted in order to evaluate the independent effect of birth weight and the other covariates (age at T1D onset, gender, T1D duration) on different clinical outcomes (BMI, HbA1c%, insulin requirement, HDL cholesterol, triglycerides). RESULTS: Thirteen subjects (2.16%) were SGA, 39 (6.48%) were LGA. Daily insulin requirement (U/kg/day) was significantly higher in SGA, while BMI and HbA1c% were increased in LGA. Multivariable linear regression showed a significant negative impact of birth weight on daily insulin requirement (p <0.001). CONCLUSIONS: Suboptimal birth weight (both high and low) in T1D patients seems to be associated with clinical characteristics suggestive of insulin resistance. Copyright © 2012 John Wiley & Sons, Ltd.Diabetes/Metabolism Research and Reviews 09/2012; · 3.37 Impact Factor -
Article: Effects of replacement therapy on sleep architecture in children with growth hormone deficiency.
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ABSTRACT: Children with GH deficiency (GHD) show a general decrease in electroencephalographic (EEG) arousability represented by a significant global decrease in Cyclic Alternating Pattern (CAP). The aim of the present study was to evaluate if sleep structure is influenced by GH substitutive therapy by analyzing the classical sleep architecture parameters and sleep microstructure by means of CAP. Laboratory polysomnographic sleep recordings were obtained from five children affected by GHD (two girls and three boys; mean age: 4.6 ± 3.1 years), at baseline and after GH therapy, and from 10 normal healthy children (four girls and six boys, mean age: 5.6 ± 2.2 years). Compared to controls, GHD subjects showed a reduced total sleep time with increased wakefulness and a consequent decrease in sleep efficiency; GH therapy was associated with an increase of the awakenings/hour and a large effect size was evident for sleep latency, sleep efficiency, and stage N3, which were decreased, and for stage W, which was increased. CAP appeared to be globally reduced and all phase A subtypes and CAP cycle showed a longer duration in GHD children vs. controls. GH substitutive treatment was followed by an increase in CAP rate (total, in N2, and in N3); additionally, A1 index was also significantly increased, especially during stage N3, with a very large effect size. On the other hand, A2 and A3 index and CAP cycle mean duration were reduced. Sleep stage architecture seems to be influenced by the GH status, but the analysis of sleep microstructure by means of CAP reveals an enhancement of EEG slow oscillations in GHD patients (demonstrated by an increase in CAP rate and A1 index during N3) after the start of GH replacement therapy. These findings deserve to be verified in a larger trial.Sleep Medicine 03/2012; 13(5):496-502. · 3.40 Impact Factor
