Folic acid, vitamin B12, and homocysteine levels during fasting and after methionine load in patients with Type 1 diabetes mellitus.

Aims: To assess plasma concentrations of folic acid, vitamin B12, and total plasma homocysteine (tHCY) during fasting and after methionine load in young patients with Type 1 diabetes mellitus (T1DM).

Methods: We enrolled 41 young patients with T1DM without any sign of microvascular complications and 123 healthy controls in a 1:3 case-control study. Fasting and post-methionine load (PML) tHCY, folic acid, and vitamin B12 levels were measured in both groups.

Breastfeeding in Northern Italy.

Aim: To describe the duration and type, as classified by World Health Organization (WHO) criteria, of breastfeeding in Ligurian newborns up to 1 year of age, and to identify possible related factors.

Methods: A prospective, observational study on a cohort of 757 women recruited in 10 hospitals in Northern Italy. Women were followed up by means of a questionnaire at discharge and by telephone interviews in the 4th, 12th, 24th and 48th weeks postpartum using the 'recall period' method.

The IGF system in a case of Costello syndrome.

Costello syndrome is characterized by facial dysmorphia, hyperpigmented skin, palmar and plantar hyperkeratosis, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), short stature, mental retardation and sociable personality. Although growth retardation is typical of Costello syndrome, its cause is not defined. We report on a 10-yr-old Caucasian girl affected by Costello syndrome with fasting hypoglycemia and short stature, associated low circulating levels of acid-labile subunit (ALS), relatively low levels of IGF-I and IGFBP-3, and normal IGF-II, mostly circulating in a binary complex with IGFBP-2 and -6 instead of in a 150 kDa ternary complex.

Anti-CD38 autoimmunity in children with newly diagnosed type 1 diabetes mellitus.

Aims: To test for anti-CD38 autoimmunity in children with newly-diagnosed type 1 diabetes mellitus (DM1).

Methods: Serum anti-CD38 autoantibodies were detected by Western blot in 270 children (130 girls, 140 boys, mean age 8 +/- 4 years) with newly-diagnosed DM1 and 179 gender- and age-matched non-diabetic children. In 126 diabetic children, another blood sample was obtained 15 +/- 4 months after the diagnosis.

Beta-cell autoantibodies and diabetes mellitus family history in cystic fibrosis.

Objective: To verify whether autoimmunity against beta-cells and family history of type 1 and/or type 2 diabetes mellitus (DM) play a role in the pathogenesis of cystic fibrosis (CF)-related diabetes mellitus (CFRD).

Patients And Methods: The prevalence of beta-cell autoantibodies (GADA and IA-2A) was investigated in a group of patients with CF compared with patients with type 1 DM (DM1) and controls. Family history of DM1 and/or DM2 was investigated among patients with CF.

High incidence of childhood type 1 diabetes in Liguria, Italy, from 1989 to 1998.

Objective: Assessing updated incidence of type 1 diabetes in 0- to 14-year-old children in Liguria, a Northwest region of Italy.

Research Design And Methods: Incident cases were recorded prospectively from 1989 to 1998. Incidence rates (IRs) were standardized to the 1999 world population using the direct method.

Permanent diabetes mellitus in the first year of life.

Aims/hypothesis: The pathogenesis of permanent diabetes mellitus diagnosed early in life is heterogeneous and, in most cases, not known. We aimed at identifying markers differentiating between non-autoimmune and autoimmune diabetes.

Methods: The clinical, genetic and epidemiological features of 111 diabetic patients (62 males) who received insulin within 12 months of life were studied.

Phenotype/genotype correlation and cystic fibrosis related diabetes mellitus (Italian Multicenter Study).

Background: A genotype/phenotype correlation between early onset cystic fibrosis related diabetes (CFRD) and the N1303K mutation of the CF gene was previously identified in a small series of 28 CFRD patients, out of 313 CF patients.

Patients And Methods: In order to confirm the observation, data of 141 CFRD patients out of 1,229 CF patients attending 14 Italian CF centers were collected. All patients were older than 10 years and had been genotyped.

[Insulin edema in three adolescents with insulin-dependent diabetes mellitus].

Three female patients with a previously poorly controlled Insulin Dependent Diabetes Mellitus (IDDM), without evidence of cardiovascular, hepatic or renal dysfunction, developed generalized edema after a substantial increase in their insulin dosage. Edema resolved in 2-3 weeks, without specific therapy. Our patient's findings met the criteria of diagnosis of insulin edema.

Incidence of type I diabetes in the Liguria Region, Italy. Results of a prospective study in a 0- to 14-year age-group.

Objective: To assess updated incidence of insulin-dependent diabetes mellitus (IDDM) in 0- to 14-year-old children in Liguria, a northwest region of Italy.

Research Design And Methods: Incident cases were recorded prospectively from 1987 to 1991. Incidence rates (IRs) were directly standardized on the basis of the 1990 world population.

Corticosterone methyl oxidase type II deficiency: a cause of failure to thrive and recurrent dehydration in early infancy.

Corticosterone methyl oxidase type II (CMO II) deficiency is an uncommon cause of salt-wasting in infancy. We describe a boy who presented with recurrent dehydration and severe failure to thrive in the first 3 months of life, associated with mild hyponatraemia (serum Na+ 127-132 mEq/l) and hyperkalaemia (serum K+ 5.3-5.

Duplication of the short arm of chromosome 9. Analysis of five cases.

Five females with duplication of the short arm of one chromosome 9 are reported, one tetrasomic and four trisomic for 9p. The tetrasomy is due to an isochromosome 9p while the trisomies are due in one case to an intrachromosomal duplication present in lymphocytes but not in fibroblasts, two are secondary to translocations with chromosomes 22 and 13 respectively, and one is a mosaic with a cell line with an additional deleted chromosome 9 present in lymphocytes and fibroblasts. This analysis indicates that duplications 9p may result in impairment of ovarian function.