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Aims: To compare iBGStar™+DMApp (experimental meter+telemedicine system) (iBGStar) with a traditional glucose meter (Control) in type 1 diabetes adolescents/young adults. Methods: i-NewTrend was a multicenter, open-label, randomized trial involving subjects aged 14–24years, on basal–bolus insulin, HbA1c≥8.0%, and poorly compliant with SMBG (i.e.

Aims: Many authors do not recommend hypoglycemic treatment during pregnancy in women affected by monogenic diabetes due to heterozygous glucokinase (GCK) mutations (MODY 2) in case of affected fetus, because maternal hyperglycemia would be necessary to achieve a normal birthweight. We aimed to evaluate differences in birthweight between MODY 2 affected children according to the parent who carried the mutation. Methods: We retrospectively studied 48 MODY 2 affected children, whose mothers did not receive hypoglycemic treatment during pregnancy, divided into two groups according to the presence of the mutation in the mother (group A) or in the father (group B). Data were extracted from the database of the Regional Centre of Pediatric Diabetology of the University of Campania, Naples, collected from 1996 to 2016. We analyzed birthweight and centile birthweight. Results: Percentage of small for gestational age was significantly higher in group B than in group A. We found three large for gestational age in the group that inherited the deficit from the mother, all with the same novel GCK mutation (p.Lys458-Cys461del). Conclusions: We hypothesize that not all MODY 2 affected fetuses need the same levels of hyperglycemia to have an appropriate growth, maybe because different kinds of GCK mutations may result in different phenotypes. Consequently, a “tailored therapy” of maternal hyperglycemia, based on fetal growth frequently monitored through ultrasounds, is essential in MODY 2 pregnancies.

Background: Optimal metabolic control and compliance to self-monitoring of blood glucose (SMBG) are poor in adolescents and young adults with type 1 diabetes mellitus (T1DM), and may require innovative management strategies. These may include the use of telemedicine and smartphone-linked blood glucose self-monitoring systems. To this purpose, a specific glucose meter (iBGStar™) and a dedicated Diabetes Manager Application (DMApp) have been developed. Aim of the study is to demonstrate the superiority of a smartphone-linked versus a traditional self-monitoring system in reducing HbA1c levels and improving compliance to SMBG. Methods/Design: The “i-NewTrend” study is an open-label, randomized (1:1) trial involving 21 diabetes outpatient clinics in Italy. Overall, 178 subjects aged 14–24 years with type 1 diabetes, with any diabetes duration, HbA1c ≥8%, treated with basal-bolus insulin regimen, and with poor compliance with SMBG will be randomized to two different SMBG strategies: Group A will use iBGStar™+ DMApp and Group B (control group) will use a traditional meter for SMBG during a 6-month follow-up (experimental phase). Between-group differences on metabolic control, compliance to SMBG, insulin doses, quality of life, risk of hypoglicaemic episodes and number and type of contacts with diabetes clinics will be evaluated. During a 6 month post-trial observational phase, all randomized patients in group A and B will use iBGStar™ + DMApp to evaluate the impact of the system on all the outcomes when the system is used under routine clinical practice conditions. Discussion: Results of the trial iNew Trend will assess whether and to what extent this new strategy of SMBG based on the use of iBGStar™ + DMApp will improve the management of type 1 diabetes in adolescents and young adults poorly controlled and poorly compliant, both in experimental and usual care settings.

The cytokinesis-block micronucleus assay was applied to evaluate the genotoxic effect of in vitro exposure to extremely low frequency pulsed magnetic fields on peripheral blood lymphocytes from 10 subjects aged between 3 and 24 years and affected by Turner's syndrome, in comparison with 8 healthy donors aged between 3 and 22 years. We report a significant (p

Aims The aim of this case–control study was to compare quality of life (QoL) and treatment satisfaction in adults with Type 1 diabetes (T1DM) treated with either continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI). Methods Consecutive patients aged between 18 and 55 years, and attending diabetes clinics for a routine visit, completed the Diabetes-Specific Quality-of-Life Scale (DSQOLS), the Diabetes Treatment Satisfaction Questionnaire (DTSQ) and the SF-36 Health Survey (SF-36). Case (CSII) and control subjects (MDI) were recruited in a 1 : 2 ratio. Results Overall, 1341 individuals were enrolled by 62 diabetes clinics; 481 were cases and 860 control subjects. Cases had a longer diabetes duration and were more likely to have eye and renal complications. Age, school education, occupation and HbA 1c were similar. Of control subjects, 90% followed glargine-based MDI regimens and 10% used NPH-based MDI regimens. On multivariate analysis, after adjusting for socioeconomic and clinical characteristics, scores in the following areas of the DSQOLS were higher in cases than control subjects: diet restrictions ( β = 5.96; P < 0.0001), daily hassles ( β = 3.57; P = 0.01) and fears about hypoglycaemia ( β = 3.88; P = 0.006). Treatment with CSII was also associated with a markedly higher DTSQ score ( β = 4.13; P < 0.0001) compared with MDI. Results were similar when CSII was compared separately with glargine- or NPH-based MDI regimens. Conclusions This large, non-randomized, case–control study suggests quality of life gains deriving from greater lifestyle flexibility, less fear of hypoglycaemia, and higher treatment satisfaction, when CSII is compared with either glargine-based or NPH-based MDI regimens. Diabet. Med. 25, 213–220 (2008)

The authors report on five cases of Seckel syndrome type I primordial dwarfism, belonging to three unrelated sibships. Immunological and cytogenetic investigations with DEB test did not evidence immunodeficiency or chromosomal fragility. HLA phenotype studies revealed an identical haplotype in affected sibs: a possible linkage with HLA is therefore suggested. Cranial magnetic resonance was performed in three patients and did not evidence any anomaly. One affected female showed precocious puberty at 7 years of age.

Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized by a primary defect in insulin secretion and hyperglycemia. It results from GCK gene mutations that impair enzyme activity. Between 2006 and 2010, we investigated GCK mutations in 66 diabetic children from southern Italy with suspected MODY2. Denaturing High Performance Liquid Chromatography (DHPLC) and sequence analysis revealed 19 GCK mutations in 28 children, six of which were novel: p.Glu40Asp, p.Val154Leu, p.Arg447Glyfs, p.Lys458_Cys461del, p.Glu395_Arg397del and c.580-2A>T. We evaluated the effect of these 19 mutations using bioinformatic tools such as Polymorphism Phenotyping (Polyphen), Sorting Intolerant From Tolerant (SIFT) and in silico modelling. We also conducted a functional study to evaluate the pathogenic significance of seven mutations that are among the most severe mutations found in our population, and have never been characterized: p.Glu70Asp, p.His137Asp, p.Phe150Tyr, p.Val154Leu, p.Gly162Asp, p.Arg303Trp and p.Arg392Ser. These seven mutations, by altering one or more kinetic parameters, reduced enzyme catalytic activity by >40%. All mutations except p.Glu70Asp displayed thermal-instability, indeed >50% of enzyme activity was lost at 50°C/30 min. Thus, these seven mutations play a pathogenic role in MODY2 insurgence. In conclusion, this report revealed six novel GCK mutations and sheds some light on the structure-function relationship of human GCK mutations and MODY2.