Erratum. Liraglutide Treatment Reverses Unconventional Cellular Defects in Induced Pluripotent Stem Cell-Derived β-Cells Harboring a Partially Functional WFS1 Variant. Diabetes 2025;74:1273-1288.

In the article cited above, TG was incorrectly introduced as transforming secretory granules in the main text. The correct term is thapsigargin. The editors apologize for the error.

Polygenic score from MODY genes is associated with type 1 diabetes and disease characteristics.

Aims: This study evaluates the contribution of common variants in Maturity-Onset Diabetes of the Young (MODY) genes on type 1 diabetes (T1D), using a polygenic score (PGS) approach.

Methods: 485 children and youth diagnosed with T1D from at least 1 year and 271 healthy controls (HC) were recruited. Personal information (i.

Prevention of diabetic ketoacidosis in relatives screened for islet autoantibodies and followed up in the TrialNet Pathway to Prevention study at a single institution in Italy.

Aims/hypothesis: Screening for islet autoantibodies is an effective method for identifying individuals with pre-symptomatic (stage 1 and 2) type 1 diabetes. This approach offers a valuable opportunity for education and monitoring, which can help to reduce the severity of clinical manifestations at clinical onset (stage 3), including diabetic ketoacidosis. The aim of the study was to evaluate the progression to stage 3 and the incidence of diabetic ketoacidosis in relatives of individuals with type 1 diabetes screened and followed up at a single institution in Italy.

A multi-omics integration approach relying on circulating factors does not discern subtypes of childhood type 1 diabetes.

Background: Type 1 Diabetes (T1D) exhibits considerable heterogeneity, impacting prediction, prevention, diagnosis, and treatment. Precision medicine aims to tailor treatments using 'endotypes'-subtypes of disease with distinct pathophysiological mechanisms. However, proposed endotypes often lack mechanistic associations with clinical outcomes for accurately identifying T1D cases.

Liraglutide Treatment Reverses Unconventional Cellular Defects in Induced Pluripotent Stem Cell-Derived β-Cells Harboring a Partially Functional WFS1 Variant.

Unlabelled: Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by WFS1 variants that disrupt wolframin, an endoplasmic reticulum-associated protein essential for cellular stress responses, Ca2+ homeostasis, and autophagy. Here, we investigated how the c.316-1G>A and c.

Landscape of paediatric endocrine clinical practice in Italy: results from a survey of the Italian Society for Paediatric Endocrinology and Diabetology (ISPED).

Background: Pediatric endocrinology has developed enormously over the last 30 years. Many conditions followed-up are rare and/or chronic complex diseases requiring a high level of expertise. Therefore, defining pediatric endocrinology workforce has become crucial.

Unmet needs of Italian centers for pediatric diabetes care: analysis of a survey among pediatric diabetologists facing the national screening program for Type 1 Diabetes.

Backgrounds: The incidence of Type 1 Diabetes (T1D) in children and adolescents is increasing by 3-4% per year. Children and adolescents with T1D (CwD) should receive person-centered, specialized treatment from a multidisciplinary team to ensure appropriate care. Italy is the first to implement a countrywide T1D screening program, which will raise the need for funding for specialized pediatric care.

Type 1 diabetes incidence during COVID-19 pandemic has not been influenced by COVID-19 vaccination in northern Italy region, Lombardy.

Objective: To describe the trends of type 1 diabetes(T1D) incidence in 0-17-year-olds over the years 2020-2023, and the COVID-19 vaccination uptake in Lombardy region.

Methods: Data about children and adolescents aged 0-17 years who received a diagnosis of T1D from 2020 to 2023 were extracted from the public computerized registry of the healthcare system of the Lombardy Region (Italy). After calculating the annual T1D incidence, the incidence in 2020, prior to the availability of vaccination, was compared to subsequent years.

The Utility of Smart Multiple Daily Injection Systems in Intensive Insulin-Treated People With Diabetes: An Italian Expert Consensus.

Background: Smart systems for multiple daily injections (Smart MDI) integrate continuous glucose monitoring, connected insulin pens, smartphone apps, and cloud-based data storage to provide bolus and corrective dose suggestions, reminders/alerts, automatic tracking and sharing of insulin therapy, and glycemic data to users, caregivers, and providers. This is an expert consensus on the clinical value of Smart MDI and critical points for implementation in adults and children/adolescents with diabetes.

Methods: A nominal group technique combined with the estimate-talk-estimate approach was employed to achieve consensus among panel members from the Italian Intersociety Technology and Diabetes Study Group with expertise in pediatric and adult diabetes care.

SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.

Wolfram Syndrome (WFS) is a rare, multisystemic, degenerative disease leading to premature death. Clinical and genetic heterogeneity makes WFS diagnosis and management challenging. The Italian Society of Diabetes (SID) and the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) convened an expert panel of professional healthcare practitioners to provide up-to-date knowledge about the pathophysiology, clinical presentation and treatment of WFS, and recommendations for the earlydetection and optimal disease management.

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.

Aims/hypothesis: Wolfram syndrome 1 (WS1) is an inherited condition mainly manifesting in childhood-onset diabetes mellitus and progressive optic nerve atrophy. The causative gene, WFS1, encodes wolframin, a master regulator of several cellular responses, and the gene's mutations associate with clinical variability. Indeed, nonsense/frameshift variants correlate with more severe symptoms than missense/in-frame variants.

Follow-up and monitoring programme in children identified in early-stage type 1 diabetes during screening in the general population of Italy.

Aim: To provide guidance for follow-up and monitoring of children and adolescents identified as positive to islet autoantibodies (IA) in the general population screening for type 1 diabetes (T1D) in Italy.

Methods: Detection of IA helps to diagnose pre-symptomatic T1D, prevent diabetic ketoacidosis (DKA) and identify persons for new therapies to delay symptomatic diabetes. Italy recently became the first country to approve by law a general autoantibody screening program for T1D and celiac disease in all children and adolescents (age 1-17yr).

Effectiveness of switching from first-generation basal insulin to Glargine 300 U/mL in children and adolescents with type 1 diabetes: results from the ISPED CARD database.

Aims: Glargine 300 U/mL (Gla-300) has been recently approved for use in children and adolescents with type 1 diabetes (T1D). However, real-world effectiveness data are scarce, and aim of this analysis was to assess clinical outcomes in young patients with T1D switching from 1st generation basal insulin (1BI) to Gla-300.

Methods: ISPED CARD is a retrospective, multicenter study, based on data anonymously extracted from Electronic Medical Records.

Turning the tides: achieving rapid and safe glucose control in adolescents with suboptimally controlled type 1 diabetes using advanced hybrid closed loop systems.

Aim: Many adolescents with T1D experience a decline in metabolic control due to erratic eating habits and subpar adherence to treatment regimens. The objective of our retrospective observational study was to assess the effect of the Tandem Control IQ (CIQ) advanced hybrid closed-loop (AHCL) system on a cohort of adolescents with suboptimal glucose control.

Methods: We retrospectively evaluated 20 non-adherent patients with T1D, who were inconsistently using Multiple Daily Injections (MDIs) and flash glucose monitoring and were subsequently started and on CIQ.

Sustained Effectiveness of an Advanced Hybrid Closed-Loop System in a Cohort of Children and Adolescents With Type 1 Diabetes: A 1-Year Real-World Study.

Objective: To investigate glucose metrics and identify potential predictors of the achievement of glycemic outcomes in children and adolescents during their first 12 months of MiniMed 780G use.

Research Design And Methods: This multicenter, longitudinal, real-world study recruited 368 children and adolescents with type 1 diabetes (T1D) starting SmartGuard technology between June 2020 and June 2022. Ambulatory glucose profile data were collected during a 15-day run-in period (baseline), 2 weeks after automatic mode activation, and every 3 months.

Glucometrics and device satisfaction in children and adolescents with type 1 diabetes using different treatment modalities: A multicenter real-world observational study.

Aims: To analyze metabolic outcomes, diabetes impact and device satisfaction in children and adolescents with type 1 diabetes in Italy who used different treatment modalities for diabetes care in a real-life context.

Methods: In this multicenter, nationwide, cross-sectional study, 1464 participants were enrolled at a routine visit. The following treatment modalities were considered MDI + SMBG; MDI + CGM; Sensor Augmented Pump Therapy; predictive management of low glucose; Hybrid Closed Loop (HCL); Advanced Hybrid Closed Loop (AHCL).

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.

Context: In the last decade the Sanger method of DNA sequencing has been replaced by next-generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM).

Objective: To compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.

Food Behaviour and Metabolic Characteristics of Children and Adolescents with Type 1 Diabetes: Relationship to Glycaemic Control.

Diet is an essential element of treating and managing type 1 diabetes (T1D). However, limited research has examined food behaviour in children and adolescents with T1D and their relationship to glycaemic control. This study evaluated food behaviour, metabolic characteristics and their impact on the glycaemic control of children and adolescents with T1D.