Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF)

MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5–1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients’ quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing. We designed and validated a diagnostic flowchart in the attempt to improve the detection rate and to increase the number of properly requested tests. The flowchart, called 7-iF, consists of 7 binary ‘‘yes or no’’ questions and its unequivocal output is an indication for whether testing or not. We tested the 7-iF to estimate its clinical utility in comparison to the clinical suspicion alone. The 7-iF, in a prospective 2-year study (921 diabetic children) showed a precision of about the 76%. Using retrospective data, the 7-iF showed a precision in identifying MODY2 patients of about 80% compared to the 40% of the clinical suspicion. On the other hand, despite a relatively high number of missing MODY2 patients, the 7-iF would not suggest the test for 90% of the non-MODY2 patients, demonstrating that a wide application of this method might 1) help less experienced clinicians in suspecting MODY2 patients and 2) reducing the number of unnecessary tests. With the 7-iF, a clinician can feel confident of identifying a potential case of MODY2 and suggest the molecular test without fear of wasting time and money. A Qaly-type analysis estimated an increase in the patients’ quality of life and savings for the health care system of about 9 million euros per year

Younger age at onset and sex predict celiac disease in children and adolescents with type 1 diabetes: an Italian multicenter study

OBJECTIVE— To estimate the prevalence of biopsy-confirmed celiac disease in Italian children and adolescents with type 1 diabetes and to assess whether age at onset of type 1 diabetes is independently associated with diagnosis of celiac disease. RESEARCH DESIGNANDMETHODS— The study group was a clinic-based cohort of children and adolescents with type 1 diabetes cared for in 25 Italian centers for childhood diabetes. Yearly screening for celiac disease was performed using IgA/IgG anti-gliadin and IgA anti-endomysium antibodies. RESULTS— Of the 4,322 children and adolescents (age 11.8 4.2 years) identified with type 1 diabetes, biopsy-confirmed celiac disease was diagnosed in 292 (prevalence 6.8%, 95% confidence interval [CI] 6.0 –7.6), with a higher risk seen in girls than in boys (odds ratio [OR] 1.93, 1.51–2.47). In 89% of these, diabetes was diagnosed before celiac disease. In logistic regression analyses, being younger at onset of diabetes, being female, and having a diagnosis of a thyroid disorder were independently associated with the risk of having diabetes and celiac disease. In comparison with subjects who were older than 9 years at onset of diabetes, subjects who were younger than 4 years at onset had an OR of 3.27 (2.20–4.85). CONCLUSIONS— We have provided evidence that 1) the prevalence of biopsy-confirmed celiac disease in children and adolescents with type 1 diabetes is high (6.8%); 2) the risk of having both diseases is threefold higher in children diagnosed with type 1 diabetes at age 4 years than in those age 9 years; and 3) girls have a higher risk of having both diseases than boys

Has COVID-19 Delayed the Diagnosis and Worsened the Presentation of Type 1 Diabetes in Children?

Objective: To evaluate whether the diagnosis of pediatric type 1 diabetes or its acute complications changed during the early phase of the coronavirus disease 2019 (COVID-19) pandemic in Italy. Research design and methods: This was a cross-sectional, Web-based survey of all Italian pediatric diabetes centers to collect diabetes, diabetic ketoacidosis (DKA), and COVID-19 data in patients presenting with new-onset or established type 1 diabetes between 20 February and 14 April in 2019 and 2020. Results: Fifty-three of 68 centers (77.9%) responded. There was a 23% reduction in new diabetes cases in 2020 compared with 2019. Among those newly diagnosed patient who presented in a state of DKA, the proportion with severe DKA was 44.3% in 2020 vs. 36.1% in 2019 (P = 0.03). There were no differences in acute complications. Eight patients with asymptomatic or mild COVID-19 had laboratory-confirmed severe acute respiratory syndrome coronavirus 2. Conclusions: The COVID-19 pandemic might have altered diabetes presentation and DKA severity. Preparing for any "second wave" requires strategies to educate and reassure parents about timely emergency department attendance for non-COVID-19 symptoms

Abdominal adiposity and cardiovascular risk factors in adolescents with type 1 diabetes.

Abstract AIM: To analyze the prevalence of abdominal adiposity and other traditional risk factors for cardiovascular disease in a large sample of Italian adolescents with type 1 diabetes mellitus (T1DM). METHODS: T1DM adolescents (n=412 age: 17.3±0.9years) were enrolled from 18 clinical centres. Anthropometric and laboratory parameters, blood pressure and data on insulin treatment were registered. Metabolic syndrome (MetSy) was defined according to the International Diabetes Federation criteria. RESULTS: Abdominal obesity was the most common risk factor (20.1%) in females, while hypertension in males (25.1%). MetSy was found in 9.5% patients, predominantly in females. Patients with MetSy exhibited higher insulin requirement per body surface area and higher glycated hemoglobin than patients without MetSy. Overweight/obese patients had a much higher prevalence of MetSy than normal weight patients. The logistic regression analysis showed that just waist-to-height ratio and insulin dose per body surface area contributed to discriminate subjects with the MetSy from those without. CONCLUSION: Adolescence is a critical period in determining risk of future vascular complications in T1DM. Pediatric diabetologists need to be aware of the considerable occurrence of abdominal adiposity and MetSy in T1DM patients, particularly in females, and should make any effort to achieve normal weight and better health outcomes

Telemedicine in the Time of the COVID-19 Pandemic: Results from the First Survey among Italian Pediatric Diabetes Centers

Background: Use of telemedicine for children and adolescents with type 1 diabetes at the beginning of the COVID-19 pandemic was investigated. Method: 68 Italian pediatric diabetes centers were invited to complete a survey about telemedicine usage in their pediatric patients, allocated to the no-tech group (multiple daily injections and self-monitoring blood glucose) and the tech group (insulin pump and/or flash- or continuous-glucose monitoring). Results: 60.3% of the centers completed the survey. In both the no-tech and tech groups, the most used ways of communication were generic download portals, instant messaging with personal physicians’ mobiles, working emails, and phone calls to physicians’ mobiles, with no difference, except for the use of email being higher in the no-tech group (p = 0.03). Seventy-four percent of the centers did not have any systematization and/or reimbursement, with significant differences among regions (p = 0.03). Conclusions: Almost all Italian pediatric diabetes centers use telemedicine in a semi-volunteering manner, lacking proper codification, reimbursement system, legal traceability, and accreditation system

Younger age at onset and sex predict celiac disease in children and adolescents with type 1 diabetes: an Italian multicenter study.

Diabetes Care. 2004 Jun;27(6):1294-8. Younger age at onset and sex predict celiac disease in children and adolescents with type 1 diabetes: an Italian multicenter study. Cerutti F, Bruno G, Chiarelli F, Lorini R, Meschi F, Sacchetti C; Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology. Dipartimento di Scienze Pediatriche e dell'Adolescenza, Universit\ue0 di Torino, Piazza Polonia 94, I-10126 Turin, Italy. [email protected] Abstract OBJECTIVE: To estimate the prevalence of biopsy-confirmed celiac disease in Italian children and adolescents with type 1 diabetes and to assess whether age at onset of type 1 diabetes is independently associated with diagnosis of celiac disease. RESEARCH DESIGN AND METHODS: The study group was a clinic-based cohort of children and adolescents with type 1 diabetes cared for in 25 Italian centers for childhood diabetes. Yearly screening for celiac disease was performed using IgA/IgG anti-gliadin and IgA anti-endomysium antibodies. RESULTS: Of the 4,322 children and adolescents (age 11.8 +/- 4.2 years) identified with type 1 diabetes, biopsy-confirmed celiac disease was diagnosed in 292 (prevalence 6.8%, 95% confidence interval [CI] 6.0-7.6), with a higher risk seen in girls than in boys (odds ratio [OR] 1.93, 1.51-2.47). In 89% of these, diabetes was diagnosed before celiac disease. In logistic regression analyses, being younger at onset of diabetes, being female, and having a diagnosis of a thyroid disorder were independently associated with the risk of having diabetes and celiac disease. In comparison with subjects who were older than 9 years at onset of diabetes, subjects who were younger than 4 years at onset had an OR of 3.27 (2.20-4.85). CONCLUSIONS: We have provided evidence that 1) the prevalence of biopsy-confirmed celiac disease in children and adolescents with type 1 diabetes is high (6.8%); 2) the risk of having both diseases is threefold higher in children diagnosed with type 1 diabetes at age 9 years; and 3) girls have a higher risk of having both diseases than boys

L'italiano della canzone

Il volume esamina le caratteristiche dell'attuale italiano per musica, che \ue8 molto cambiato non solo rispetto alle tradizionali arie d'opera e alla canzone della prima met\ue0 del Novecento, ma anche nel corso di questi ultimi decenni, in cui la cosiddetta \u201cmusica leggera\u201d ha assunto un\u2019importanza sempre maggiore. Il problema di fondo, per\uf2, \ue8 uguale da secoli: l\u2019italiano \ue8 la lingua della musica per eccellenza, ma nello stesso tempo, quando \ue8 cantato, deve spesso rinunciare al proprio ritmo naturale. Infatti, la musica costringe a selezionare in modo drastico le parole utilizzabili alla fine dei versi e, pi\uf9 in generale, i testi di canzone devono di solito sottomettersi a regole che li rendono molto meno efficaci se sono considerati di per s\ue9, come fossero poesie tradizionali. Il volume passa in rassegna le scelte stilistiche, i metodi e talvolta gli stratagemmi con cui le canzoni moderne affrontano il problema