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Objective Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design Retrospective analysis of the Italian data set of patients with TNDM. Methods Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared. Results Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; −2.27 SD) than those with KATP mutations (4.0 weeks; −1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.

Recent advances in information and communication technology allow the design and testing of new models of diabetes management, which are able to provide assistance to patients regardless of their distance from the health care providers. The M2DM project, funded by the European Commission, has the specific aim to investigate the potential of novel telemedicine services in diabetes management. A multi-access system based on the integration of Web access, telephone access through interactive voice response systems, and the use of palmtops and smart modems for data downloading has been implemented. The system is based on a technological platform that allows a tight integration between the access modalities through a middle layer called the multi-access organizer. Particular attention has been devoted to the design of the evaluation scheme for the system: A randomized controlled study has been defined, with clinical, organizational, economic, usability, and users' satisfaction outcomes. The evaluation of the system started in January 2002. The system is currently used by 67 patients and seven health care providers in five medical centers across Europe. After 6 months of usage of the system no major technical problems have been encountered, and the majority of patients are using the Web and data downloading modalities with a satisfactory frequency. From a clinical viewpoint, the hemoglobin A1c (HbA1c) of both active patients and controls decreased, and the variance of HbA1c in active patients is significantly lower than the control ones. The M2DM system allows for the implementation of an easy-to-use, user-tailored telemedicine system for diabetes management. The first clinical results are encouraging and seem to substantiate the hypothesis of its clinical effectiveness.

Objectives: Evaluation of GH response to ghrelin in patients with GH deficiency (GHD) may help to elucidate the site and mechanism of action of ghrelin. We aimed to investigate the GH-releasing effect of ghrelin in children and young adults with childhood-onset GHD. Design: All subjects underwent ghrelin testing and neuro-imaging examination. Magnetic resonance imaging evidenced the presence of a vascular pituitary stalk (VPS) or its complete absence (PSA). Patients and methods: Seventeen prepubertal children and nine adult patients with childhood-onset GHD were selected for the study. The children were enrolled at a median age of 5.8 years. The adult subjects were included at a median age of 23.3 years. The diagnosis of GHD in the adult patients had been established at a median age of 8.5 years. Ghrelin was administered at a dose of 1 μg/kg body weight, i.v. at time zero, and blood for GH determination was obtained at 0, 15, 30, 45, 60, 75, 90, 105 and 120 min. Results: Median GH response after ghrelin was similar between children and adults. Median peak GH response to ghrelin (7.45 μg/l, IQR: 3.9–11.3 μg/l) was significantly higher in patients with VPS (10.9 μg/l, IQR: 2.4–15.1 μg/l) than in those with PSA (IQR: 2.3–6.7 μg/l; P = 0.001). It was significantly higher in subjects with isolated GHD (12.5 μg/l, IQR: 10.8–15.5 μg/l) than in those with multiple pituitary hormone deficiencies (5.15 μg/l, IQR: 2.4–9.0 μg/l; P = 0.003). No correlation was found between the GH peak after ghrelin and body mass index. Conclusion: The GH response to ghrelin in patients with congenital hypopituitarism depends on the degree of the anatomical abnormalities and lends further support to the assumption that the main action of the peptide is exerted at the hypothalamic level and requires the integrity of hypothalamic–pituitary connections.

DCCT (Diabetes Control and Complications Trial) study showed that tight metabolic control of diabetes mellitus can delay the onset and/or reduce the frequency of vascular complications. Telemedicine, i.e. telecommunications and information technologies in health care, is a useful tool to achieve the DCCT goals. Our European Community (EC) sponsored Telematic management of Insulin-Dependent Diabetes Mellitus (T-IDDM) project implements a telemedicine service through on a careful analysis of current medical practice. The system is based on two components: Patient Unit (PU) and Medical Unit (MU) connected by a Telecommunication system (TS). PU allows data collection and transmission from the patient's house to the hospital, assists self-monitoring activity and suggests insulin variations. PU communicates patient's current metabolic state the MU. MU assists the physician in periodic evaluation and suggests the prescriptions to communicate back defining a treatment protocol. TS system is based on telephone lines, relying on the Intranet technology. To test the system functionality and potential impact in type 1 diabetes clinical practice, we enrolled 6 patients (4 males and 2 females), aged 9.9-15.8 yrs, with disease duration 2.1-6.4 yrs, intensively treated. One girl run out after a 1-year follow-up HbA1c levels decreased, but not significantly. Insulin requirement reduced, significantly in 2 patients (p = 0.02 and p = 0.07). A positive correlation was between number of links and protocol changes (p = 0.01), between number of protocols changes and HbA1c decrease (p = 0.02). In pediatric patients periodical visits are necessary, but T-IDDM enables continuity of care improving access and activities. An index is represented by the high number of messages between the 2 Units, seeming weekly exchange.