Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic review.

Introduction: Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene, leading to impaired chloride transport, thickened mucus, and multiorgan dysfunction. Among its complications, cystic fibrosis-related diabetes (CFRD) is a major concern, characterized by progressive b-cell dysfunction and insulin deficiency. The advent of CFTR modulators, including ivacaftor, lumacaftor/ivacaftor, and elexacaftor/tezacaftor/ivacaftor (ETI), has revolutionized CF management by improving pulmonary function, nutritional status, and overall survival.

Disordered eating behaviors and predictors in youth with Type 1 Diabetes and Celiac Disease.

Data on Disordered Eating Behaviors (DEBs) occurrence in cohorts with Type 1 Diabetes (T1D) and Celiac Disease (CD) are very few and somehow conflicting. This study aimed to analyze the prevalence of DEBs in T1D + CD and T1D individuals, and to identify the main predictors. An observational case-control study was conducted comparing subjects aged 8-18 years with T1D and CD ( = 66) with those with T1D only ( = 84).

Use of gonadotropin-releasing hormone agonists in transgender and gender diverse youth: a systematic review.

Introduction: Puberty suppression using gonadotropin-releasing hormone agonists (GnRHa) is a reversible medical intervention that halts endogenous puberty, allowing transgender and gender-diverse (TGD) adolescents to avoid the development of secondary sexual characteristics that may cause psychological distress. This pause in pubertal progression provides time to explore gender identity or facilitates alignment with affirmed gender in those with an established identity. While widely used, long-term evidence on the efficacy and safety of GnRHa in this population remains limited.

[Psychological impact of growth hormone deficiency in adolescence: an observational study in pediatric clinical practice].

Background: Growth problems in children and adolescents are a frequent reason for referral to pediatric endocrinologists with the most common endocrine form of short stature being growth hormone deficiency (Ghd). Health-related quality of life (HRQoL) is an important factor in adolescents with Ghd and should be considered in clinical practice by physicians and psychologists.

Aim: Present observational study aimed to examine the effects of Ghd and its treatment in outpatient adolescents, during the follow-up.

Knowledge, Attitudes, and Practices in Neonatal Diabetes Mellitus Management: the JEnious-NeOnatal-DIabetes (JENODI) Survey.

Introduction: We aimed to explore the knowledge, attitude, and management of neonatal diabetes mellitus (NDM) among members of the International Society for Pediatric and Adolescent Diabetes (ISPAD).

Methods: Members of the society were invited to complete an online questionnaire posted on the ISPAD website.

Results: We received 108 responses from 45 different countries.

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.

Insulin Delivery Technology for Treatment of Infants with Neonatal Diabetes Mellitus: A Systematic Review.

Neonatal diabetes mellitus is a rare disorder of glucose metabolism with onset within the first 6 months of life. The initial treatment is based on insulin infusion. The technologies for diabetes treatment can be very helpful, even if guidelines are still lacking.

Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review.

The Tandem t:slim X2 insulin pump is a second-generation automated insulin delivery system with Control-IQ technology. It consists of an X2 insulin pump, an integrated Dexcom sensor, and an embedded 'Control-IQ' algorithm, which predicts glucose levels 30 min in the future, adapting the programmed basal insulin rates to get glucose levels between 112.5 and 160 mg/dl (8.

Allelic heterogeneity and abnormal vesicle recycling in -related neurodevelopmental disorders.

The human gene encodes Phospholipase-A2-Activating-Protein (PLAA) involved in trafficking of membrane proteins. Through its PUL domain (PLAP, Ufd3p, and Lub1p), PLAA interacts with p97/VCP modulating synaptic vesicles recycling. Although few families carrying biallelic variants were reported with progressive neurodegeneration, consequences of monoallelic variants have not been elucidated.

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.

Increased IGFBP Proteolysis, IGF-I Bioavailability, and Pappalysin Levels in Children With Prader-Willi Syndrome.

Context: Prader-Willi syndrome (PWS) is associated with impaired growth hormone (GH) secretion and decreased insulin-like growth factor (IGF)-I levels. Pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2) regulate IGF binding-protein (IGFBP) cleavage and IGF bioavailability, but their implication in PWS is unknown.

Objective: We determined serum levels of PAPP-As and STCs in association with IGF axis components in prepubertal and pubertal patients with PWS, also analyzing the effect of GH treatment.

Glycemic Variability and Time in Range Are Associated with the Risk of Overweight and High LDL-Cholesterol in Children and Youths with Type 1 Diabetes.

Introduction: Reducing cardiovascular risk factors (CVRFs) exposure in children and youths with type 1 diabetes (T1D) is critical for cardiovascular disease (CVD) prevention. Long-term exposure to hyperglycemia, measured by HbA1c, had been recognized as the main factor affecting the CVRFs profile. To date, the possible association between short-term glycemic control and variability measured by continuous glucose monitoring (CGM) metrics and CVRFs has not been explored.