Cesare Bianchi

Bone density and bone metabolism are normal after long-term gluten-free diet in young celiac patients

Objectives:Osteoporosis and alterations of bone metabolism are frequent complications of celiac disease. We evaluated the impact of long-term gluten-free diet (GFD) initiated during childhood and adolescence on bone mineralization and bone metabolism.Methods:We studied 30 celiac patients on GFD for ≥5 yr. The mean age at diagnosis was 11.4 ± 5.0 yr, and the mean duration of GFD was 10.7 ± 4.3 yr. Results were compared with those obtained in 240 healthy controls. Bone mineral density (BMD) was measured in the lumbar spine and in the whole skeleton by dual-energy x-ray absorptiometry. Serum levels of bone-specific alkaline phosphatase (BALP) and N-terminal propeptide of type I procollagen (PINP) were measured as bone formation indices, and urine levels of N-telopeptide of type I collagen (NTx) as bone resorption index.Results:BMD measurements of celiac patients (lumbar spine: 1.131 ± 0.121 g/cm2; total body: 1.145 ± 0.184 g/cm2) did not differ from those of control subjects (lumbar spine: 1.131 ± 0.184 g/cm2; total body: 1.159 ± 0.118 g/cm2). The levels of BALP, PINP, and NTx of celiac patients did not differ from those of controls. Patients who started GFD before puberty had BMD and bone metabolism measurements comparable to those of patients who started GFD during puberty.Conclusions:Our data show that long-term dietary treatment ensures normal mineralization and bone turnover.

Bone turnover in neonates: Changes of urinary excretion rate of collagen type I cross-linked peptides during the first days of life and influence of gestational age

New markers have been used to monitor the changes of bone turnover occurring during growth. Data on bone turnover rate during the perinatal period are, however, very scarce. In the present study we evaluated bone turnover rate, assessed by the measurement of urinary N-terminal telopeptide of type I collagen (NTx) concentrations, at different gestational ages, and we documented the trend of bone turnover rate occurring in the first days after birth. Urine samples were obtained from 83 healthy full term newborn infants, 16 preterm, and 17 infants of diabetic mothers (IDMs). The first miction after birth was collected. Urine samples were also collected 24 and 48 h after birth. NTx was measured by an enzyme-linked immunosorbent assay (Osteomark, Ostex International, Inc. Seattle, WA). The relationship between NTx at birth and all the other variables has been evaluated using multiple regression analysis. The changes of NTx excretion over time and the effect of the groups were studied by multivariate analysis of variance (MANOVA) for repeated measures. We found a remarkable association between gestational age and NTx concentrations at birth (R = 0.56; p < 0.00001). NTx concentrations showed a progressive decrement, reaching a nadir between the 38th and the 42nd week of gestation. The NTx concentrations changed significantly during the first 48 h of life in the three groups. Moreover, preterm infants had NTx excretion values at birth significantly higher than full term infants (p < 0.001), whereas NTx excretion rates of IDMs were not different from those of the other two groups of subjects. In conclusion, gestational age seems to be the major determinant of bone turnover in neonates; NTx excretion rate is higher before term, it slows in proximity of delivery, and it increases significantly during the first 48 h of life. Preterm infants have higher bone turnover rate than full term infants. NTx excretion rate of IDMs was comparable with those of the control subjects.

Influence of breast- and formula-feeding on plasma cholesterol precursor sterols throughout the first year of life☆☆☆★★★

We evaluated endogenous cholesterol synthesis and plasma lipid profile longitudinally from birth to 1 year old in infants who were exclusively breast-fed (n = 19) or formula-fed (n = 19) for the first 4 months of life. At 1 and 4 months of age, breast-fed infants had higher plasma total and low-density lipoprotein cholesterol and apolipoprotein B levels than formula-fed infants, whereas plasma mevalonate and lanosterol levels were not different between the two study groups.

A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism

Persistent neonatal hyperinsulinaemic hypoglycaemia due to nesidioblastosis is a rare condition probably transmitted by an autosomal recessive inheritance. Recurrent hypoglycaemic episodes become evident after birth and cause severe neurological damage without intensive treatment. The intrauterine detection of hypoglycaemia and hyperinsulinism in newborns subsequently diagnosed as affected by nesidioblastosis has not yet been reported. We describe a case of familial nesidioblastosis in which an intrauterine diagnosis could be suggested by high levels of insulin and C‐peptide and low values of glucose in the amniotic fluid.

Isolated glucocorticoid deficiency

A three-month-old boy with hypoglycemic episodes, feeding problems and hyperpigmentation is described. Hormone assays revealed elevated serum ACTH values and low levels of plasma Cortisol that did not rise after exogenous ACTH administration; blood pressure, serum electrolytes and earlier plasma aldosterone and renin activity were in the normal range. These data suggest a diagnosis of an isolated glucocorticoid deficiency, secondary to unresponsiveness to ACTH. Replacement therapy with glucocorticoids was highly effective. Despite replacement therapy, during follow-up he had an increase in basal plasma renin activity with aldosterone concentration normal. In our patient, a mineralcorticoid deficiency might eventually develop; therefore, the selective glucocorticoid deficiency might also be part of a progressive defect involving the glomerulosa too.

Early Diagnosis of So-Called Late Complications in Type 1 Diabetic Children

Prevention of late complications is the main problem in type 1 diabetes of childhood. Longitudinal studies of subjects diagnosed before puberty demonstrated significant prevalence of retinopathy, nephropathy and neuropathy after 10‐ 15 years, correlated with the duration of diabetes. Proliferative retinopathy is rarely observed in children with diabetes of less than 5 years duration but vitreous fluorophotometry has shown abnormalities of retinal vessels in asymptomatic patients. In early diabetes glomerular permeability can be tested by radioimmunoassay of microalbuminuria; values above 30 mcg/min are a good predictor of later clinical proteinuria. The development of overt neuropathy is extremely variable and it may not be present even after many years of poorly controlled diabetes.