Factors influencing the acceptability of automated insulin delivery systems in youths with type 1 diabetes and their parents.

Aims: New technology has been reported as a factor driving people to choose an automatic insulin delivery system (AIDs) and to sustain its acceptance. We aimed to explore the role of continuous glucose monitoring (CGM) technology (instant scanning vs. real-time) and insulin treatment modality to determine the future acceptance of AIDs among T1D individuals.

A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.

Androgen insensitivity syndrome (AIS) is one of the most common Disorders of Sexual Differentiation (DSDs). AIS is characterized by an X-linked recessive inheritance pattern associated with variants in the androgen receptor (AR) gene that affects the masculinization process in individuals with XY karyotype. Here, we report a neonatal case of a very early diagnosis of complete AIS due to a novel variant in the AR gene.

Measures of Patient-Reported Expectations, Acceptance, and Satisfaction Using Automated Insulin Delivery Systems: A Review.

In people with type 1 diabetes, Automated Insulin Delivery (AID) systems adjust insulin delivery in response to sensor glucose data and consist of three components: an insulin pump, a continuous glucose sensor, and an algorithm that determines insulin delivery. To date, all the available AID systems require users to announce carbohydrate intake and deliver meal boluses, as well as respond to system alarms. The use of AID devices both initially and over time may be influenced by a variety of psychological factors.

A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency.

Disorders of sexual development (DSDs) are characterized by a heterogeneous group of congenital conditions associated with atypical development of the sex chromosomes, gonadal or anatomical sex. We report the case of a child with an isolated micropenis, a typical feature of the 46,XY DSD showing low basal testosterone levels and post-stimulation with the hCG test. Molecular analysis using a next-generation sequencing (NGS) panel of 50 genes involved in DSDs was performed, revealing a heterozygous mutation, c.

Incidence of Type 1 diabetes and factors associated with presence and severity of ketoacidosis at onset in children.

Background And Aim: To assess the incidence of Type 1 Diabetes Mellitus (T1DM) during the period 2012-2017, the frequency and severity of ketoacidosis (DKA) at diabetes onset, and the factors associated with DKA in children and adolescents younger than 18 years old in the Abruzzo region, Italy.

Methods: All incident cases of T1DM (0-17 years old) diagnosed between January 2012 and December 2017 were included. Data about the patients were obtained from two independent sources; insulin prescriptions and medical records.

Fear of hypoglycemia in children with type 1 diabetes and their parents: Validation of the Italian version of the Hypoglycemia Fear Survey for Children and for Parents.

Background: Currently, Italian versions of the Hypoglycemia Fear Survey for Children (CHFS) and for Parents (PHFS) quantifying Fear of Hypoglycemia (FoH) in pediatric diabetes are not available.

Objective: To validate the Italian version of the CHFS and PHFS.

Subjects And Methods: One hundred and seventy-four children with type 1 diabetes aged 6-18 and 178 parents completed the CHFS and PHFS, the PedsQL 3.

Decreasing prevalence of retinopathy in childhood-onset type 1 diabetes over the last decade: A comparison of two cohorts diagnosed 10 years apart.

Aim: To ascertain whether the prevalence of retinopathy has declined over the last 2 decades in individuals with childhood-onset type 1 diabetes and whether this might be explained by changes in lifetime HbA1c.

Materials And Methods: A multicentre, retrospective, observational study, comparing 128 subjects with diabetes onset in 2000-2003 assessed for retinopathy in 2016-2019, with a previous cohort of 115 individuals diagnosed in 1990-1993 and assessed for retinopathy in 2007-2009, was conducted. The two cohorts had both a similar diabetes duration and age at diagnosis.

Diabetic ketoacidosis: A consensus statement of the Italian Association of Medical Diabetologists (AMD), Italian Society of Diabetology (SID), Italian Society of Endocrinology and Pediatric Diabetoloy (SIEDP).

Background And Aim: Diabetic ketoacidosis (DKA) is a serious medical emergency once considered typical of type 1 diabetes (T1DM), but now reported to occur in type 2 and GDM patients as well. DKA can cause severe complications and even prove fatal. The aim of our study was to review recent international and national guidelines on diagnosis, clinical presentation and treatment of diabetic ketoacidosis, to provide practical clinical recommendations.

Role of the KCNJ Gene Variants in the Clinical Outcome of Type 1 Diabetes.

Diabetes is considered as a disease with a wide and continuous clinical spectrum, ranging from Type 1 (T1D) and Type 2 Diabetes (T2D) with complex multifactorial causes. In the last years, particular attention has been focused on the predictive value and therapeutic potential of single nucleotide polymorphisms (SNPs). SNPs can alter the seed-sequence in miRNA's loci and miRNA target sites causing changes in the structure and influencing the binding function.

Insulin/carbohydrates ratio during the first 6-month therapy with insulin degludec in a paediatric population with type 1 diabetes previously treated with insulin glargine. An observational longitudinal study.

Background: No data exist about the changes induced by the transition from first-generation long-acting insulins to second-generation long-acting analogues in the paediatric population.

Objective: To assess changes in insulin/carbohydrate ratio (I:CHO) after the first 6 months of degludec therapy in a paediatric population with type 1 diabetes previously treated with glargine U100.

Subjects: All patients treated with degludec under routine clinical practice conditions were retrospectively analysed.

Effectiveness and safety of flexible therapeutic schemes including first- and secondgeneration basal insulins during a pediatric summer diabetes camp.

Outcomes of insulin analogues in pediatric diabetes camps are poorly investigated; no data is available about insulin degludec (IDeg).Our aim was to assess impact of insulin therapy adopted by the participants to a 4-day diabetes camp held in 2017, hypothesizing a possible excess risk of hypoglycemia in patients treated with IDeg. Overall, 40 children with type 1 diabetes (mean age 13.

Serum Steroid Profiling by Liquid Chromatography-Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report.

Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders of steroid biosynthesis, in 95% of cases due to 21-hydroxylase deficiency. The resulting hormonal imbalances lead to increased 17-hydroxyprogesterone and androgens levels, at the expense of decreased concentrations of glucocorticoids and, in some cases, of mineralocorticoids. A variety of clinical presentations accompany a range of severities, which are described as different forms of CAH, and are the result of these hormonal imbalances.

Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?

VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations have been discovered except for some sporadic chromosomal rearrangements and gene mutations. We report a boy with VACTERL association and shawl scrotum with bifid scrotum who presented with a de novo Yq11.

Optimal predictive low glucose management settings during physical exercise in adolescents with type 1 diabetes.

Objectives: To assess the optimal setting of the predictive low glucose management (PLGM) algorithm for preventing exercise-induced hypoglycemia in adolescents with type 1 diabetes.

Methods: Thirty-four adolescents, 15 to 20 years, wearing PLGM system, were followed during 3 days exercise during a diabetes camp. PLGM threshold was set at 70 mg/dL between 8 am and 10 pm and 90 mg/dL during 10 pm and 8 am Adolescents were divided into group A and B, with PLGM threshold at 90 and 70 mg/dL, respectively, during exercise.

Unmet needs in children with diabetes: the role of basal insulin.

The goal of insulin therapy in people affected by type 1 diabetes mellitus consists in achieving an optimal metabolic control and so HbA1c levels below 7.5%, according to the conclusions of relevant scientific studies. In any case it seems that this target is far from being achieved, mostly in the pediatric population.

Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.

Context: An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis of chronic complications.

Objective: The aim of the present study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers and the influence of an etiologic diagnosis on therapy.

Design, Setting, And Patients: This was a retrospective study.

Recommendations for the use of sensor-augmented pumps with predictive low-glucose suspend features in children: The importance of education.

Sensor-augmented pumps, which consist of a pump and a continuous glucose monitoring system, offer considerable therapeutic opportunities, despite requiring close attention in the early phase of their use. The aim of this paper is to provide recommendations on the use of a predictive low glucose management (PLGM) system (Minimed 640G™, Medtronic, Northridge, CA, USA) in adolescents with type 1 diabetes either at the start of therapy or during follow-up. Sound clinical recommendations on PLGM are of increasing importance since several recent papers have reported significant clinical improvements in patients with PLGM, especially in adults.

High frequency of diabetic ketoacidosis at diagnosis of type 1 diabetes in Italian children: a nationwide longitudinal study, 2004-2013.

This longitudinal population-based study analyses the frequency of diabetic ketoacidosis (DKA) at type 1 diabetes diagnosis in Italian children under 15 years of age, during 2004-2013. DKA was defined as absent (pH ≥ 7.30), mild/moderate (7.

A Multicenter Retrospective Survey regarding Diabetic Ketoacidosis Management in Italian Children with Type 1 Diabetes.

We conducted a retrospective survey in pediatric centers belonging to the Italian Society for Pediatric Diabetology and Endocrinology. The following data were collected for all new-onset diabetes patients aged 0-18 years: DKA (pH < 7.30), severe DKA (pH < 7.

Ketoacidosis at diagnosis in childhood-onset diabetes and the risk of retinopathy 20years later.

Aims: To investigate on the relationship between severity of ketoacidosis, an important risk factor for C-peptide preservation, and long-term microvascular complications in childhood-onset type 1 diabetes mellitus (T1DM).

Methods: 230 childhood-onset diabetic patients (177 pre-pubertal), aged 7.0±3.