Increasing trend of type 1 diabetes incidence in the pediatric population of the Calabria region in 2019-2021.

BACKGROUND: Although type 1 diabetes (T1D) represents one of the most common chronic diseases in pediatric age, few studies on the epidemiology of T1D exist globally and the exact prevalence and incidence rates of the disease are unknown. In many countries, including Italy, national registries are missing. METHODS: This study aims to assess T1D incidence in the pediatric population of the Calabria region (southern Italy) in the period 2019-2021. The secondary objective was to describe the main demographical, clinical and immunological features of incident cases. Case ascertainment and all clinical data were assessed by retrospectively reviewing the electronic medical records of children and adolescents diagnosed with diabetes at any Pediatric Diabetes Center belonging to the Rete Diabetologica Calabrese (Calabria Region Diabetes Network), from January 2019 to December 2021. The incidence of T1D was estimated for the entire region and was stratified according to age group (0-4 years, 5-9 years, and 10-14 years) and gender. Standardized incidence ratios for each province in the region were also calculated. RESULTS: The crude incidence of T1D was 20.6/100,000 person/years. Incidence rates were higher among females and children aged 5-9 years. The crude incidence of T1D was higher in the province of Reggio Calabria (26.5/100,000 person-years). The provinces of Crotone, Catanzaro, and Vibo Valentia showed significantly lower standardized incidence ratios. The annual incidence in the region progressively increased by 43% during the study period. CONCLUSIONS: Our study revealed a relatively high incidence in the Calabria region. The marked increasing incidence trend over the past two years could be related to the global impact of the COVID-19 pandemic, but further long-scale population-based studies are needed to confirm these findings.

Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.

Pediatric patients with Prader-Willi syndrome (PWS) can be treated with recombinant human GH (rhGH). These patients are highly sensitive to rhGH and the standard doses suggested by the international guidelines often result in IGF-1 above the normal range. We aimed to evaluate 1 the proper rhGH dose to optimize auxological outcomes and to avoid potential overtreatment, and 2 which patients are more sensitive to rhGH. In this multicenter real-life study, we recruited 215 patients with PWS older than 1 year, on rhGH at least for 6 months, from Italian Centers for PWS care. We collected auxological parameters, rhGH dose, IGF-1 at recruitment and (when available) at start of treatment. The rhGH dose was 4.3 (0.7/8.4) mg/m2/week. At recruitment, IGF-1 was normal in 72.1% and elevated in 27.9% of the patients. In the group of 115 patients with IGF-1 available at start of rhGH, normal pretreatment IGF-1 and uniparental disomy were associated with elevated IGF-1 during the therapy. No difference in height and growth velocity was found between patients treated with the highest and the lowest range dose. The rhGH dose prescribed in Italy seems lower than the recommended one. Normal pretreatment IGF-1 and uniparental disomy are risk factors for elevated IGF-1. The latter seems to be associated with higher sensitivity to GH. In case of these risk factors, we recommend a more accurate titration of the dose to avoid overtreatment and its potential side effects.

Erythrocyte Galactose-1-phosphate measurement by GC-MS in the monitoring of classical galactosemia.

BACKGROUND: Classical galactosemia is a rare but very severe disease characterized by a deficiency of the galactose-1-phosphate uridyltransferase enzyme. The confirmed galactosemic patients are treated with a galactose-restricted diet. Nevertheless, metabolites such as galactose-1-phosphate can accumulate in red blood cells of treated patients and its measurement is a standard practice for their monitoring. At present, no commercial methods for measuring galactose-1-phosphate in erythrocytes are available. METHODS: In this study, we will describe the optimization and laboratory validation of a previously published quantitative gas chromatographic-mass spectrometric method and its clinical validation on normal donors and galactosemic patients both at the diagnosis and during the follow-up. RESULTS: The method was technically optimized and validated for its clinical use on normal donors and galactosemic newborns, children and adults. The method was suitable for the monitoring of dietary compliance. Galactose-1-phosphate levels were found to be well correlated with the clinical signs in the galactosemic patients at the follow-up. CONCLUSIONS: This paper provides information on the measurement of Galactose-1-phosphate levels that can be very useful for the management of classical galactosemia.