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

Epidemiologia della chetoacidosi diabetica in Italia

Ketoacidosis is a potentially life-threatening complication in patients with type 1 diabetes mellitus (T1DM), particularly children. If diabetic ketoacidosis (DKA) is diagnosed late, the child risks cerebral edema, permanent neurological damage or even death. There have been only few studies of DKA in Italy.From January-May 2014 a nation-wide observational, retrospective study of DKA at diabetes onset was done by the Pediatric Diabetology Study Group (PDSG) of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED), involving 76 Italian centers. DKA was defined using ISPAD criteria; 7457 new cases of T1DM were recruited from mainland Italy and the island of Sicily and 770 from Sardinia, in the period 2004-2013. On the mainland and in Sicily, DKA at diabetes onset was about 32.9% (95% CI 31.8-34.0%), and there was 6.6% (95% CI 6.02-7.20%) of the severe form. Mild and severe DKA risk was significantly higher in children aged 0-4 years; no significant temporal trend was found in the study period. Patients living in Sardinia or having a firstdegree relative with T1DM were at significantly lower risk of DKA at diabetes onset. In the ten-year study period three children died of DKA at onset and four suffered permanent neurological lesions. From November 2011-April 2012 the PDSG conducted a retrospective study based on a sample of 2025 patients with T1DM, aged 0-18 years, involving 29 national centers for pediatric diabetes. The incidence of DKA was 2.4% (IC 95% 1.8-3.1), with children older than ten years at significantly higher risk, probably due to shortages of insulin. Multiple analysis showed a higher risk of DKA in those using a rapid-acting insulin analog and in those with high HbA1c. Young mothers and low levels of education were also associated with DKA.In conclusion, although a wide network of specialized home pediatricians and pediatric diabetes centers is spread across the country, the incidence of DKA at diabetes onset is still high. Further social and health-system efforts are needed to boost awareness of this risk and to reduce damages and costs related to the complication

Epidemiologia della chetoacidosi diabetica in Italia

Ketoacidosis is a potentially life-threatening complication in patients with type 1 diabetes mellitus (T1DM), particularly children. If diabetic ketoacidosis (DKA) is diagnosed late, the child risks cerebral edema, permanent neurological damage or even death. There have been only few studies of DKA in Italy.From January-May 2014 a nation-wide observational, retrospective study of DKA at diabetes onset was done by the Pediatric Diabetology Study Group (PDSG) of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED), involving 76 Italian centers. DKA was defined using ISPAD criteria; 7457 new cases of T1DM were recruited from mainland Italy and the island of Sicily and 770 from Sardinia, in the period 2004-2013. On the mainland and in Sicily, DKA at diabetes onset was about 32.9% (95% CI 31.8-34.0%), and there was 6.6% (95% CI 6.02-7.20%) of the severe form. Mild and severe DKA risk was significantly higher in children aged 0-4 years; no significant temporal trend was found in the study period. Patients living in Sardinia or having a firstdegree relative with T1DM were at significantly lower risk of DKA at diabetes onset. In the ten-year study period three children died of DKA at onset and four suffered permanent neurological lesions. From November 2011-April 2012 the PDSG conducted a retrospective study based on a sample of 2025 patients with T1DM, aged 0-18 years, involving 29 national centers for pediatric diabetes. The incidence of DKA was 2.4% (IC 95% 1.8-3.1), with children older than ten years at significantly higher risk, probably due to shortages of insulin. Multiple analysis showed a higher risk of DKA in those using a rapid-acting insulin analog and in those with high HbA1c. Young mothers and low levels of education were also associated with DKA.In conclusion, although a wide network of specialized home pediatricians and pediatric diabetes centers is spread across the country, the incidence of DKA at diabetes onset is still high. Further social and health-system efforts are needed to boost awareness of this risk and to reduce damages and costs related to the complication

La terapia insulinica sottocutanea continua (CSII) in Italia. Terza indagine nazionale

Continuous subcutaneous insulin infusion (CSII) is increasingly being used worldwide, mostly thanks to technical improvements. This study examined the current status of CSII in Italy. Physicians in charge of 272 diabetes centers caring for patients using CSII were sent a questionnaire investigating clinical features, pump technology and management of these patients; a large proportion (217 centers, 79.8%) joined the study. By end-April 2013, data had been collected on 10152 patients treated with CSII; 98.2% had type 1 diabetes, 82.4% were adults, 57% female. Only just over half the centers (59%) managed more than 20 CSII patients each. The distribution of patients varied widely both among and within different regions. The main indication for CSII was the de- sire to improve glycemic control. Dropouts (8.65%) were mainly due to difficulties with pump wearability or non-optimal glycemic control. Among CSII patients 61% used a traditional pump, 39% a sensor augmented pump. Only 68% used the CSII advanced functions and glucose sensors were used twelve days per month on average. Round-the-clock assistance was guaranteed in 81% of centers; a full diabetes team followed patients in only 40% of adult-care centers and 50% of pediatric units. CSII is increasingly used in Italy, by adults and pediatric patients. However, further work is needed to unify treatment strategies throughout the country and to encourage optimal pump use and applications

La terapia insulinica sottocutanea continua (CSII) in Italia. Terza indagine nazionale

Continuous subcutaneous insulin infusion (CSII) is increasingly being used worldwide, mostly thanks to technical improvements. This study examined the current status of CSII in Italy. Physicians in charge of 272 diabetes centers caring for patients using CSII were sent a questionnaire investigating clinical features, pump technology and management of these patients; a large proportion (217 centers, 79.8%) joined the study. By end-April 2013, data had been collected on 10152 patients treated with CSII; 98.2% had type 1 diabetes, 82.4% were adults, 57% female. Only just over half the centers (59%) managed more than 20 CSII patients each. The distribution of patients varied widely both among and within different regions. The main indication for CSII was the de- sire to improve glycemic control. Dropouts (8.65%) were mainly due to difficulties with pump wearability or non-optimal glycemic control. Among CSII patients 61% used a traditional pump, 39% a sensor augmented pump. Only 68% used the CSII advanced functions and glucose sensors were used twelve days per month on average. Round-the-clock assistance was guaranteed in 81% of centers; a full diabetes team followed patients in only 40% of adult-care centers and 50% of pediatric units. CSII is increasingly used in Italy, by adults and pediatric patients. However, further work is needed to unify treatment strategies throughout the country and to encourage optimal pump use and applications