Type 1 diabetes (T1D) patients’ lifestyle and prognosis has remarkably changed over the years, especially after the introduction of insulin pumps, in particular advanced hybrid closed loop systems (AHCL). Emerging data in literature continuously confirm the improvement of glycemic control thanks to the technological evolution taking place in this disease. As stated in previous literature, T1D patients are seen to be more satisfied thanks to the use of these devices that ameliorate not only their health but their daily life routine as well. Limited findings regarding the use of new devices in different age groups and types of patients is their major limit. This review aims to highlight the main characteristics of each Automated Insulin Delivery (AID) system available for patients affected by Type 1 Diabetes Mellitus. Our main goal was to particularly focus on these systems’ efficacy and use in different age groups and populations (i.e., children, pregnant women). Recent studies are emerging that demonstrate their efficacy and safety in younger patients and other forms of diabetes.

Foreign body ingestion (FBI) in children requires early identification to prevent adverse outcomes and may necessitate endoscopic or surgical intervention. This study aims to develop a nomogram that identifies children who require urgent surgical or endoscopic intervention by using the patient's medical history and clinical parameters collected at admission. This study is a retrospective review (01/2015-12/2020) of a multicenter case series of children admitted for FBI. Data from 5864 records from 24 hospitals in Italy were analyzed. Logistic regression models were used to establish the probability of requiring surgical or endoscopic intervention based on patient history and clinical characteristics. The nomogram representing the results from the multivariable model was reported to examine the propensity for surgery/endoscopy. The study identified a significant association between intervention and various factors, including type of foreign body (blunt: reference category, disk battery (odds ratio OR:4.89), food bolus (OR:1.88), magnets (OR:2.61), sharp-pointed (OR:1.65), unknown (OR:1.02)), pre-existing diseases or conditions (OR 3.42), drooling (OR 10.91), dysphagia (OR 5.58), vomiting (OR 3.30), retrosternal pain (OR 5.59), abdominal pain (OR 1.58), hematemesis (OR 2.82), food refusal/poor feeding (OR 2.99), and unexplained crying (OR 2.01). The multivariable regression model showed good calibration and discrimination ability, with an area under the ROC curve of 0.77. This study developed the first nomogram to predict the probability of the need for surgical or endoscopic intervention in children with FBI, based on the information collected at admission. The nomogram will aid clinicians in identifying children who require early intervention to prevent adverse outcomes.

The case report shows the safety and efficacy of insulin treatment with Advanced Hybrid Closed Loop (AHCL) system in a young patient affected by permanent neonatal diabetes mellitus (PNDM) due to chromosome 8 deletion syndrome involving the GATA4 gene. In the first days of life, he presented hyperglycaemia and started an intravenous insulin infusion therapy, replaced by a continuous subcutaneous insulin infusion (CSII) with Medtronic Minimed 780G^® insulin pump (Medtronic, Northridge, CA, USA). At the age of 2 years, the off-label activation of SmartGuard^® automated insulin delivery mode led to a great improvement in glycaemic control, reaching all recommended targets. At the 1-month follow-up visit, Time in Range (TIR) increased from 66% to 79%, with a Time in Tight Range (TTIR) of 55% and a reduction of 11% in time in hyperglycaemia and of 2% in time in hypoglycaemia. During the entire follow-up, no episodes of ketoacidosis or severe hypoglycaemia were observed and the patient maintained the glycaemic recommended targets reached at 1 month. Maintaining optimal glycaemic control and reducing hyperglycaemia are essential for brain growth and neurocognitive development in young patients. AHCL use should be considered to ensure good glycaemic control in patients affected by neonatal diabetes.

Background/Objectives. Pediatric brain tumor survivors (PBTS) are at increased risk of cardiometabolic complications due to tumor- and treatment-related hypothalamic–pituitary (HP) damage and adverse body composition. We evaluated associations of the Single-Point Insulin Sensitivity Estimator (SPISE) with central adiposity, DXA-derived body composition, metabolic abnormalities, and HP involvement. Methods. In this retrospective study, 119 PBTSs (median age, 12.7 years; median time since therapy, 2.4 years) were evaluated. SPISE, BMI, waist-to-height ratio (WHtR), DXA-derived fat-to-lean ratio (FLR), and metabolic syndrome (MetS) were assessed. Multivariable logistic regression evaluated the association between SPISE and central adiposity. Exploratory receiver operating characteristic analyses compared the discriminatory performance of SPISE, BMI-SDS, HOMA-IR, and FLR. Results. Central adiposity was present in 58.8% of participants, whereas BMI-defined obesity occurred in 21.8%. Lower SPISE values were associated with central adiposity, obesity, MetS, HP damage, and multiple pituitary hormone deficiencies (all p < 0.05). SPISE declined across pubertal stages and remained associated with central adiposity after adjustment for age and selected HP variables (OR = 0.58, 95% CI 0.46–0.73). SPISE showed good discrimination of central adiposity (AUC = 0.81), with an exploratory, cohort-derived threshold of 7.82; FLR provided complementary information on body composition. Conclusions. Central adiposity was common and not fully captured by BMI-defined obesity. Lower SPISE values were associated with concurrent anthropometric and metabolic abnormalities, while DXA-derived FLR added descriptive information on body composition. Whether these indices improve cardiometabolic risk stratification beyond conventional measures requires prospective investigation.

Background/Objectives: Bainbridge–Ropers syndrome (BRPS) is a rare neurodevelopmental disorder caused by truncating and splicing pathogenic variants in the additional sex combs-like 3 (ASXL3) gene. It is primarily characterized by neurodevelopmental delay and craniofacial dysmorphism. Most reported cases involve de novo mutations in the ASXL3 gene, whereas inherited mutations have been rarely described. The present report aims to describe the clinical and molecular presentation of a familial case of BRPS and to highlight the potential role of parental mosaicism. Methods: We describe the clinical and molecular presentation of a 12-year-old boy and his 20-month-old half-brother, both affected by Bainbridge–Ropers syndrome. Trio-exome sequencing (ES) was performed in the family to identify variants in the ASXL3 gene, and targeted Sanger sequencing was also performed for segregation analysis. Results: Genetic analysis identified a previously unreported heterozygous frameshift variant in the ASXL3 gene (c.1648_1649del; p.Met550Aspfs*5) shared by both siblings. The variant was inherited from their clinically unaffected mother, who carries the mutation in the mosaic state with a variant allele fraction of approximately 15% in peripheral blood DNA. Conclusions: This observation highlights parental mosaicism as a potential mechanism underlying the familial recurrence of BRPS and emphasizes the importance of considering mosaic variants during the genetic evaluation and counseling of affected families.