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1.
Diabet Med ; 41(6): e15307, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38383984

RESUMEN

AIMS: While continuous glucose monitoring (CGM) and associated technologies have positive effects on metabolic control in young people with type 1 diabetes (T1D), less is known about their impact on quality of life (QoL). Here, we quantified CGM satisfaction and QoL in young people with T1D and their parents/caregivers to establish (i) the relationship between QoL and CGM satisfaction and (ii) the impact of the treatment regimen on QoL. METHODS: This was a cross-sectional study of children and adolescents with T1D on different treatment regimens (multiple daily injections, sensor-augmented pumps and automated insulin delivery). QoL was assessed with the KINDL instrument, and CGM satisfaction with the CGM-SAT questionnaire was evaluated in both youths with T1D and their parents. RESULTS: Two hundred and ten consecutively enrolled youths with T1D completed the KINDL and CGM-SAT questionnaires. The mean total KINDL score was greater than neutral in both subjects with T1D (3.99 ± 0.47) and parents (4.06 ± 0.40), and lower overall CGM-SAT scores (i.e., higher satisfaction) were significantly associated with higher QoL in all six KINDL subscales (p < 0.05). There were no differences in KINDL scores according to delivery technology or when participants were grouped according to optimal and sub-optimal glucose control. CONCLUSIONS: Higher satisfaction with recent CGMs was associated with better QoL in all dimensions. QoL was independent of both the insulin delivery technology and glycaemic control. CGM must be further disseminated. Attention on perceived satisfaction with CGM should be incorporated with the clinical practice to improve the well-being of children and adolescents with T1D and their families.


Asunto(s)
Automonitorización de la Glucosa Sanguínea , Diabetes Mellitus Tipo 1 , Hipoglucemiantes , Sistemas de Infusión de Insulina , Insulina , Satisfacción del Paciente , Calidad de Vida , Humanos , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/psicología , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Adolescente , Masculino , Femenino , Niño , Estudios Transversales , Insulina/uso terapéutico , Insulina/administración & dosificación , Hipoglucemiantes/uso terapéutico , Control Glucémico , Glucemia/metabolismo , Glucemia/análisis , Encuestas y Cuestionarios , Padres/psicología , Hemoglobina Glucada/metabolismo , Hemoglobina Glucada/análisis , Monitoreo Continuo de Glucosa
2.
Int J Mol Sci ; 24(4)2023 Feb 17.
Artículo en Inglés | MEDLINE | ID: mdl-36835446

RESUMEN

Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes mellitus (DM) that accounts for around 2-5% of all types of diabetes. Autosomal dominant inheritance in pathogenic variations of 14 genes related to ß-cell functions can lead to monogenic types of diabetes. In Italy, GCK/MODY is the most frequent form and it is caused by mutations of the glucokinase (GCK). Patients with GCK/MODY usually have stable mild fasting hyperglycaemia with mildly elevated HbA1c levels and rarely need pharmacological treatment. Molecular analysis of the GCK coding exons was carried out by Sanger sequencing in eight Italian patients. All the probands were found to be heterozygous carriers of a pathogenic gross insertion/deletion c.1279_1358delinsTTACA; p.Ser426_Ala454delinsLeuGln. It was previously described for the first time by our group in a large cohort of Italian GCK/MODY patients. The higher levels of HbA1c (6.57% vs. 6.1%), and the higher percentage of patients requiring insulin therapy (25% vs. 2%) compared to the previously studied Italian patients with GCK/MODY, suggest that the mutation discovered could be responsible for a clinically worse form of GCK/MODY. Moreover, as all the patients carrying this variant share an origin from the same geographic area (Liguria), we postulate a possible founder effect and we propose to name it the "pesto" mutation.


Asunto(s)
Diabetes Mellitus Tipo 2 , Glucoquinasa , Humanos , Diabetes Mellitus Tipo 2/genética , Glucoquinasa/genética , Hemoglobina Glucada/análisis , Mutación
3.
Diabetes Obes Metab ; 23(8): 1950-1955, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33999510

RESUMEN

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. Retinal photographs were centrally graded. Lifetime HbA1c and its variability, estimated as the ratio between intrapersonal mean and standard deviation of HbA1c, were evaluated. RESULTS: The prevalence of any retinopathy in the new and old cohort was 24.2% and 43.5% (P < .003), respectively, and that of severe retinopathy was 1.7% and 9.6% (P = .018). Lifetime HbA1c was lower in the new cohort (7.8% ± 0.8% vs. 8.1% ± 0.8%; P = .002) during all periods following the first 5 years after diagnosis. Patients without retinopathy in the two cohorts had similar levels of HbA1c. Compared with patients without retinopathy, those with retinopathy had higher lifetime HbA1c and long-term HbA1c variability. However, on multiple regression analysis, only lifetime HbA1c was independently associated with retinopathy (P = .0018). CONCLUSIONS: The risk of developing retinopathy was nearly halved in children who developed type 1 diabetes in the new millennium compared with previous cohorts. These results confirm that maintaining the lowest possible levels of HbA1c throughout lifetime protects from diabetic retinopathy.


Asunto(s)
Diabetes Mellitus Tipo 1 , Retinopatía Diabética , Enfermedades de la Retina , Niño , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/epidemiología , Retinopatía Diabética/diagnóstico , Retinopatía Diabética/epidemiología , Retinopatía Diabética/etiología , Hemoglobina Glucada/análisis , Humanos , Prevalencia , Estudios Retrospectivos , Factores de Riesgo
4.
Diabetes Obes Metab ; 23(11): 2484-2491, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34227214

RESUMEN

AIM: To evaluate the impact of a virtual educational camp (vEC) on glucose control in children and adolescents with type 1 diabetes using a closed-loop control (CLC) system. MATERIALS AND METHODS: This was a prospective multicentre study of children and adolescents with type 1 diabetes using the Tandem Basal-IQ system. Insulin pumps were upgraded to Control-IQ, and children and their parents participated in a 3-day multidisciplinary vEC. Clinical data, glucose metrics and HbA1c were evaluated over the 12 weeks prior to the Control-IQ update and over the 12 weeks after the vEC. RESULTS: Forty-three children and adolescents (aged 7-16 years) with type 1 diabetes and their families participated in the vEC. The median percentage of time in target range (70-180 mg/dL; TIR) increased from 64% (interquartile range [IQR] 56%-73%) with Basal-IQ to 76% (IQR 71%-81%) with Control-IQ (P < .001). After the vEC, more than 75% of participants achieved a TIR of more than 70%. The percentage of time between 180 and 250 mg/dL and above 250 mg/dL decreased by 5% (P < .01) and 6% (P < .01), respectively, while the time between 70 and 54 mg/dL and below 54 mg/dL remained low and unaltered. HbA1c decreased by 0.5% (P < .01). There were no episodes of diabetic ketoacidosis or severe hypoglycaemia. CONCLUSIONS: In this study of children managing their diabetes in a real-world setting, more than 75% of children who participated in a vEC after starting a CLC system could obtain and maintain a TIR of more than 70%. The vEC was feasible and resulted in a significant and persistent improvement in TIR in children and adolescents with type 1 diabetes.


Asunto(s)
Diabetes Mellitus Tipo 1 , Adolescente , Glucemia , Automonitorización de la Glucosa Sanguínea , Niño , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Humanos , Hipoglucemiantes/uso terapéutico , Insulina/uso terapéutico , Sistemas de Infusión de Insulina , Estudios Prospectivos
5.
Pediatr Diabetes ; 21(8): 1546-1555, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32939906

RESUMEN

AIMS: To assess the prevalence of cardiovascular risk factors (CVRFs) and to identify the variables associated with CVRFs in a cohort of children and adolescents with Type 1 Diabetes. METHODS: 2021 subjects, 2-18 year-old, were recruited in 17 Italian Pediatric Diabetes Centers. Anthropometric, blood pressure, biochemical (HbA1c, lipid profile, ACR), insulin therapy, physical activity level, smoking and family socio-economic status data were collected. CVRFs prevalence and their distribution were analyzed according to age and binary logistic regression was performed with positivity for at least one major CVRF (BMI-SDS > +2SD, blood pressure > 90th percentile, LDL cholesterol>100 mg/dL) as dependent variable and age, duration of illness, gender, HbA1c and physical activity, as independent variables. RESULTS: The prevalence of CVFRs not at the recommended target was respectively: 32.5% one CVRF, 6.7% two CVRFs and 0.6% three CVRFs, with no significant differences across the 3 age groups (2-10, 10-15, 15-18 years). In the total sample, HbA1c and inadequate physical activity were associated with a higher probability of having at least one major CVRF. This probability was associated with physical activity in the 2-10-year-old group, with physical activity and HbA1c in the 10-15-year-old group and with HbA1c only in subjects older than 15 years. CONCLUSIONS: More than 30% of subjects had at least a major CVRF. Early detection of CVRFs may be useful to enforce the therapeutic intervention in this subgroup, in order to reduce the risk to develop cardiovascular complications.


Asunto(s)
Enfermedades Cardiovasculares/epidemiología , Diabetes Mellitus Tipo 1/complicaciones , Medición de Riesgo/métodos , Adolescente , Enfermedades Cardiovasculares/etiología , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Italia/epidemiología , Masculino , Prevalencia , Factores de Riesgo
6.
Pediatr Diabetes ; 20(1): 107-112, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30378759

RESUMEN

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. Time spent in hypoglycemia and AUC for time slots 8 am to 1 pm, 1 to 4 pm, 4 to 11 pm, 11 pm to 3 am, 3 to 8 am, in 3 days were compared between groups by Wilcoxon rank sum test. RESULTS: We analyzed 31 patients (median age 15.0 years, 58.1% males, median diabetes duration 7.0 years, hemoglobin A1c [HbA1c] 7.1%). No significant difference has been observed in time spent in hypoglycemia between groups using threshold 70 or 90. Time spent in target was similar in both groups, as well as time spent in hypo or hyperglycemia. The trends of blood glucose over the 3 days in the 2 groups over-lapped without significant differences. CONCLUSIONS: A PLGM threshold of 90 mg/dL during the night was associated with reduced time in hypoglycemia in adolescents doing frequent physical exercise, while maintaining 65.1% time in range during the day. However, a threshold of 70 mg/dL seems to be safe in the duration of the physical exercise. PLGM system in adolescents with type 1 diabetes was effective to prevent hypoglycemia during and after exercise, irrespective of the PLGM thresholds used.


Asunto(s)
Glucemia/análisis , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Ejercicio Físico/fisiología , Hipoglucemia/prevención & control , Sistemas de Infusión de Insulina/normas , Insulina/administración & dosificación , Adolescente , Adulto , Glucemia/efectos de los fármacos , Glucemia/metabolismo , Automonitorización de la Glucosa Sanguínea/métodos , Automonitorización de la Glucosa Sanguínea/normas , Calibración , Femenino , Humanos , Inyecciones Subcutáneas , Masculino , Medicina Preventiva/métodos , Medicina Preventiva/normas , Adulto Joven
7.
Diabetes Obes Metab ; 20(11): 2551-2556, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-29893044

RESUMEN

AIM: To evaluate the incidence of insulin pump and infusion set failures in a cohort of children and adolescents with type 1 diabetes during a 1-year follow-up. MATERIALS AND METHODS: Insulin pump breakdown and infusion set failures were prospectively registered in a cohort of 1046 children and adolescents from 25 tertiary pediatric diabetes centres (50% male, mean age 12.2 ± 4.1 years), with type 1 diabetes from the age of 6.7 ± 3.6 years, and using an insulin pump from the age of 3.3 ± 2.2 years. RESULTS: An average rate of 4.5 failures/person-year was registered; the incidences (events per person-year) for each failure were 8.4 for hyperglycaemia episodes solved with infusion set change, 7 for bubbles, 2.8 for kinking, 2.4 for bleeding, 2 for set dislodge, 2 for pump blockage, 1.9 for tunnelling, 1.8 for lipohypertrophy, and 0.3 for infection. At multivariate analysis significant association between HbA1c and lipohypertrophy (P < 0.0028) was shown. Analysis by age group (<6, 6-11, >11 years) showed a higher frequency of bubbles, hyperglycaemia episodes and lipohypertrophy in preschoolers; tunnelling and pump blockage were more frequent in adolescents. Aspart was associated with a lower risk of bubbles and hyperglycaemia whereas glulisine was associated with a higher risk of lipohypertrophy and pump blockage. The usage of oblique cannula was associated with a low risk of all failures except infections. CONCLUSIONS: This prospective 1-year study on a large cohort of Italian children and adolescents with type 1 diabetes using insulin pump therapy showed a low total failure rate, highlighting the importance of continuous education to reduce failures. Lipohypertrophy was the only issue associated with a worsening of metabolic control.


Asunto(s)
Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 1/epidemiología , Falla de Equipo/estadística & datos numéricos , Sistemas de Infusión de Insulina , Insulina/administración & dosificación , Adolescente , Niño , Preescolar , Estudios de Cohortes , Diabetes Mellitus Tipo 1/sangre , Femenino , Hemoglobina Glucada/análisis , Hemoglobina Glucada/efectos de los fármacos , Humanos , Incidencia , Lactante , Recién Nacido , Insulina/efectos adversos , Sistemas de Infusión de Insulina/efectos adversos , Italia/epidemiología , Masculino , Estudios Retrospectivos , Insuficiencia del Tratamiento
9.
JCEM Case Rep ; 2(6): luae057, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38832005

RESUMEN

In this report we present a case of a 14-year-old girl with type 1 diabetes mellitus (T1DM) who experienced glycemic instability and multiple hormonal deficits, including diabetes insipidus, central hypothyroidism, and central adrenal insufficiency. Brain and sellar magnetic resonance imaging revealed a mass in the suprasellar region, which was confirmed to be a pituitary abscess through transsphenoidal biopsy. T1DM is a chronic systemic disease that can lead to suboptimal glycemic control and increased susceptibility to infections. Pituitary abscess is a rare and serious infection that can manifest with nonspecific signs and symptoms, as well as pituitary hormonal deficiencies. Currently, after a 6-year follow-up the pituitary hormone deficiencies have resolved apart from persistent partial diabetes insipidus. Through a review of the current literature, we discuss the clinical characteristics of pituitary abscess, the challenges in diagnosing it, and speculate on the potential clinical and pathophysiological relationship between this uncommon infection and T1DM in our patient.

10.
Front Endocrinol (Lausanne) ; 15: 1347141, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38966218

RESUMEN

Background and aims: Cystic fibrosis related diabetes (CFRD) is correlated with worsening of nutritional status and greater deterioration of lung function. The role of new technologies for the treatment of CFRD is little explored. The aim of the study was to evaluate the efficacy of Advanced Hybrid Closed Loop (AHCL) systems on glycemic control in CF patients. Methods: A single-center retrospective study on CFRD patients using AHCL systems was performed. Glycated hemoglobin (HbA1c) values and Continuous Glucose Monitoring (CGM) metrics were collected at T0 (AHCL placement), T1 (1-month), T2 (6-months) and T3 (1-year) to evaluate glycemic control. Results: 10 patients were included in the study. Data showed a reduction of HbA1c value (7.31 ± 0.34 to 6.35 ± 1.00; p=0.03), glycemic variability (p=0.05) and insulin requirement (p=0.03). The study population reached American Diabetes Association (ADA) recommended glycemic targets at 1-year. An increase in the Time in Range (TIR) and a reduction in time in hyperglycemia were also observed, although not statistically significant. Conclusions: In patients with CFRD, the use of AHCL leads to an improvement in glycemic control in terms of HbA1c and glycemic variability. The increase in TIR and the reduction of time in hyperglycemia, although not statistically significant, are extremely encouraging from a clinical point of view. Further studies with a larger population and a longer follow-up are needed. The results of this study demonstrate the importance of proposing the use of AHCL even in CF patients, who could benefit from glycemic improvement also in terms of nutritional status and respiratory function.


Asunto(s)
Glucemia , Fibrosis Quística , Diabetes Mellitus , Hemoglobina Glucada , Control Glucémico , Humanos , Fibrosis Quística/complicaciones , Proyectos Piloto , Masculino , Femenino , Estudios Retrospectivos , Glucemia/análisis , Glucemia/metabolismo , Hemoglobina Glucada/análisis , Control Glucémico/métodos , Adulto , Automonitorización de la Glucosa Sanguínea/métodos , Adolescente , Sistemas de Infusión de Insulina , Adulto Joven , Insulina/uso terapéutico , Insulina/administración & dosificación , Hipoglucemiantes/uso terapéutico , Niño , Resultado del Tratamiento
11.
J Diabetes Sci Technol ; : 19322968241253285, 2024 May 28.
Artículo en Inglés | MEDLINE | ID: mdl-38804535

RESUMEN

BACKGROUND: Skin reactions due to technological devices pose a significant concern in the management of type 1 diabetes (T1D). This multicentric, comparative cross-sectional study aimed to assess the psychological impact of device-related skin issues on youths with T1D and their parents. METHODS: Participants with skin reactions were matched in a 1:1 ratio with a control group. Diabetes-related emotional distress was evaluated using the Problem Areas in Diabetes-Teen version (PAID-T) for participants aged 11 to 19 years and the Problem Areas in Diabetes-Parent Revised version (PAID-PR) completed by parents. In addition, glucose control was assessed through glycated hemoglobin (HbA1c) values and continuous glucose monitoring (CGM) metrics. RESULTS: A total of 102 children and adolescents were consecutively recruited. Adolescents with skin issues had higher PAID-T scores compared to those without (79.6 ± 21.1 vs 62 ± 16.8; P = .004). Parents of youths with skin reactions also reported higher PAID-PR scores than the control group (34.0 ± 11.0 vs 26.9 ± 12.3; P = .015). No differences were observed in HbA1c levels (6.9 ± 0.8% vs 6.8 ± 0.8%, P = .555) or CGM glucose metrics between the two groups. Remarkably, 25.5% were forced to discontinue insulin pumps and/or glucose sensors (21.5% and 5.9%, respectively). CONCLUSIONS: Our study highlighted the increased emotional burden experienced by youths with T1D and their parents due to device-related skin reactions, emphasizing the need for further research and interventions in this crucial aspect of diabetes management.

12.
Diabetes Res Clin Pract ; 210: 111621, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38499182

RESUMEN

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). Health related quality of life was evaluated by the Italian version of the Diabetes Impact and Device Satisfaction Scale (DIDS) questionnaire. RESULTS: Patients treated with AID systems were more likely to have HbA1c ≤ 6.5 %, higher percentage of time with glucose levels between 70 and 180 mg/dL, lower percentage of time with glucose levels above 180 mg/dL, higher device satisfaction, and reduced impact of diabetes. All the therapeutic modalities with respect to MDI + CGM, except for MDI + SMBG, contributed to increase the device satisfaction. HCL and AHCL respect to MDI + CGM were associated with lower diabetes impact. CONCLUSION: Real-life use of automated insulin delivery systems is associated with reduced type 1 diabetes impact, increased device satisfaction, and achievement of glycemic goals.


Asunto(s)
Diabetes Mellitus Tipo 1 , Niño , Humanos , Adolescente , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Hipoglucemiantes , Calidad de Vida , Estudios Transversales , Insulina , Glucemia/metabolismo , Automonitorización de la Glucosa Sanguínea/métodos , Sistemas de Infusión de Insulina
13.
Diabetes Care ; 47(6): 1084-1091, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38626260

RESUMEN

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. The influence of covariates on glycemic outcomes after 1 year of MiniMed 780G use was assessed. RESULTS: After 15 days of automatic mode use, all glucose metrics improved compared with baseline (P < 0.001), except for time below range (P = 0.113) and coefficient of variation (P = 0.330). After 1 year, time in range (TIR) remained significantly higher than at baseline (75.3% vs. 62.8%, P < 0.001). The mean glycated hemoglobin (HbA1c) over the study duration was lower than the previous year (6.9 ± 0.6% vs. 7.4 ± 0.9%, P < 0.001). Time spent in tight range (70-140 mg/dL) was 51.1%, and the glycemia risk index was 27.6. Higher TIR levels were associated with a reduced number of automatic correction boluses (P < 0.001), fewer SmartGuard exits (P = 0.021), and longer time in automatic mode (P = 0.030). Individuals with baseline HbA1c >8% showed more relevant improvement in TIR levels (from 54.3% to 72.3%). CONCLUSIONS: Our study highlights the sustained effectiveness of MiniMed 780G among youth with T1D. Findings suggest that even children and adolescents with low therapeutic engagement may benefit from SmartGuard technology.


Asunto(s)
Glucemia , Diabetes Mellitus Tipo 1 , Sistemas de Infusión de Insulina , Insulina , Humanos , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 1/sangre , Adolescente , Niño , Masculino , Femenino , Glucemia/análisis , Glucemia/metabolismo , Insulina/administración & dosificación , Insulina/uso terapéutico , Hipoglucemiantes/uso terapéutico , Hipoglucemiantes/administración & dosificación , Estudios Longitudinales , Automonitorización de la Glucosa Sanguínea/métodos , Hemoglobina Glucada/metabolismo , Hemoglobina Glucada/análisis
14.
Artículo en Inglés | MEDLINE | ID: mdl-38408297

RESUMEN

CONTEXT: In the last decade 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.SIR) identified in Italy in 2003-2012 (Sanger) versus 2013-2022 (NGS). METHODS: We reviewed clinical and genetic records of 104 cases with diabetes onset before 6 months of age (NDM+c.SIR) of the Italian dataset. RESULTS: Fiftyfive patients (50 NDM + 5 c.SIR) were identified during 2003-2012 and 49 (46 NDM + 3 c.SIR) in 2013-2022. Twenty-year incidence was 1:103,340 (NDM) and 1:1,240,082 (c.SIR) live births. Frequent NDM/c.SIR genetic defects (KCNJ11, INS, ABCC8, 6q24, INSR) were detected in 41 and 34 probands during 2003-2012 and 2013-2022, respectively. We identified a pathogenic variant in rare genes in a single proband (GATA4) (1/42 or 2.4%) during 2003-2012 and in 8 infants (RFX6, PDX1, GATA6, HNF1B, FOXP3, IL2RA, LRBA, BSCL2) during 2013-2022 (8/42 or 19%, p= 0.034 vs 2003-2012). Notably, five among rare genes were recessive. Swift and accurate genetic diagnosis led to appropriate treatment: patients with autoimmune NDM (FOXP3, IL2RA, LRBA), were subjected to bone marrow transplant; patients with pancreas agenesis/hypoplasia (RFX6, PDX1) were supplemented with pancreatic enzymes and the individual with lipodystrophy caused by BSCL2 was started on metreleptin. CONCLUSIONS: NGS substantially improved diagnosis and precision therapy of monogenic forms of neonatal diabetes and congenital SIR in Italy.

15.
Front Endocrinol (Lausanne) ; 14: 1099024, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36777356

RESUMEN

Background and aims: Tandem Control-IQ and MiniMed 780G are the main Advanced Hybrid Closed Loop (AHCL) systems currently available in pediatric and adult patients with Type 1 Diabetes (T1D). The aim of our study was to evaluate glycemic control after 1-year of follow-up extending our previous study of 1-month comparison between the two systems. Methods: We retrospectively compared clinical and continuous glucose monitoring (CGM) data from the patients included in the previous study which have completed 1-year observation period. The study population consisted of 74 patients, 42 Minimed 780G users and 32 Tandem Control-IQ users. Linear mixed models with random intercept were performed to study the variations over time and the interaction between time and system; Mann-Whitney or T-test were used to compare systems at 1-year. Results: Both systems have been shown to be effective in maintaining the glycemic improvement achieved one month after starting AHCL. Significant changes over time were observed for TIR, TAR, TAR>250mg/dl, average glucose levels and SD (p<0.001). At 1-year follow-up Minimed 780G obtained better improvement in TIR (p<0.001), TAR (p=0.002), TAR>250mg/dl (p=0.001), average glucose levels (p<0.001). The comparison of the glycemic parameters at 1-year showed a significant superiority of Minimed 780G in terms of TIR (71% vs 68%; p=0.001), TAR (p=0.001), TAR>250 (p=0.009), average glucose levels(p=0.001) and SD (p=0.031). Conclusions: The use of AHCL systems led to a significant improvement of glycemic control at 1-month, which is maintained at 1-year follow-up. MiniMed is more effective than Tandem in reaching the International recommended glycemic targets. Continuous training and education in the use of technology is essential to get the best out of the most advanced technological tools.


Asunto(s)
Diabetes Mellitus Tipo 1 , Humanos , Adulto , Niño , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Hipoglucemiantes/uso terapéutico , Automonitorización de la Glucosa Sanguínea , Estudios Retrospectivos , Estudios de Seguimiento , Insulina/uso terapéutico , Glucemia , Sistemas de Infusión de Insulina , Italia/epidemiología
16.
Life (Basel) ; 13(5)2023 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-37240725

RESUMEN

Next-generation sequencing (NGS) has revolutionized the field of genomics and created new opportunities for basic research. We described the strategy for the NGS validation of the "dysglycaemia panel" composed by 44 genes related to glucose metabolism disorders (MODY, Wolfram syndrome) and familial renal glycosuria using Ion AmpliSeq technology combined with Ion-PGM. Anonymized DNA of 32 previously genotyped cases with 33 different variants were used to optimize the methodology. Standard protocol was used to generate the primer design, library, template preparation, and sequencing. Ion Reporter tool was used for data analysis. In all the runs, the mean coverage was over 200×. Twenty-nine out of thirty three variants (96.5%) were detected; four frameshift variants were missed. All point mutations were detected with high sensitivity. We identified three further variants of unknown significance in addition to pathogenic mutations previously identified by Sanger sequencing. The NGS panel allowed us to identify pathogenic variants in multiple genes in a short time. This could help to identify several defects in children and young adults that have to receive the genetic diagnosis necessary for optimal treatment. In order not to lose any pathogenic variants, Sanger sequencing is included in our analytical protocol to avoid missing frameshift variants.

17.
Life (Basel) ; 13(3)2023 Mar 14.
Artículo en Inglés | MEDLINE | ID: mdl-36983941

RESUMEN

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.

18.
Sci Rep ; 13(1): 11294, 2023 07 12.
Artículo en Inglés | MEDLINE | ID: mdl-37438382

RESUMEN

The fecal microbiome of 55 obese children and adolescents (BMI-SDS 3.2 ± 0.7) and of 25 normal-weight subjects, matched both for age and sex (BMI-SDS - 0.3 ± 1.1) was analysed. Streptococcus, Acidaminococcus, Sutterella, Prevotella, Sutterella wadsworthensis, Streptococcus thermophilus, and Prevotella copri positively correlated with obesity. The inferred pathways strongly associated with obesity concern the biosynthesis pathways of tyrosine, phenylalanine, tryptophan and methionine pathways. Furthermore, polyamine biosynthesis virulence factors and pro-inflammatory lipopolysaccharide biosynthesis pathway showed higher abundances in obese samples, while the butanediol biosynthesis showed low abundance in obese subjects. Different taxa strongly linked with obesity have been related to an increased risk of multiple diseases involving metabolic pathways related to inflammation (polyamine and lipopolysaccharide biosynthesis). Cholesterol, LDL, and CRP positively correlated with specific clusters of microbial in obese patients. The Firmicutes/Bacteroidetes-ratio was lower in obese samples than in controls and differently from the literature we state that this ratio could not be a biomarker for obesity.


Asunto(s)
Microbioma Gastrointestinal , Microbiota , Obesidad Infantil , Niño , Adolescente , Humanos , Lipopolisacáridos , Algoritmos
19.
Front Public Health ; 11: 1249299, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37711248

RESUMEN

Background and aims: The aim of the study was to evaluate the satisfaction of the use of telemedicine and telenursing in children and young adults with Type 1 Diabetes (T1D) using Advanced Hybrid Closed Loop systems (AHCL) with a focus on the role of connectivity, data download and the ease of technical steps in the set and sensor change procedures. Methods: An online anonymous survey was administered to AHCL users. The questionnaire consisted of five Clusters: Cluster A-B-C included questions related to the general satisfaction in the use of telemedicine, Cluster D was focused on the role of data download and connectivity, Cluster E was related to satisfaction in telenursing and Cluster F to the perception of ease of execution of the technical steps like changing the infusion set and the sensor. Results: We collected 136 completed questionnaires. 83.8% of AHCL users were overall satisfied with the quality of the telemedicine service. 88.2% of patients downloaded AHCL data before visits and the overall quality of televisits (data sharing, connectivity, ease of use) was satisfactory for 85.3% of users. Telenursing support during set and sensor change procedures was considered effective by 98% of AHCL users. The sensor and insulin infusion set change procedure is perceived as different for the two systems: set change simpler for Medtronic (p = 0.011) users, while sensor change was simpler for Tandem users (p = 0.009). Conclusion: Telemedicine and telenursing have an essential role in diabetology and are highly appreciated in AHCL users. The nurse support in the education of the use of AHCL systems is effective and must be implemented. Unfortunately, not all patients have the technological tools needed for downloading data at home and using telemedicine services; this represents an important challenge for the future of diabetology and for the equity in accessibility to care.


Asunto(s)
Diabetes Mellitus Tipo 1 , Telemedicina , Teleenfermería , Humanos , Niño , Adulto Joven , Diabetes Mellitus Tipo 1/terapia , Escolaridad , Difusión de la Información
20.
Front Public Health ; 11: 1228975, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38239792

RESUMEN

Background and aims: Since Type 1 Diabetes (T1D) onset usually occurs at a young age, a relevant number of affected people attend school for most of their time; it is necessary that school personnel receive appropriate education and training. We aimed to evaluate the effectiveness of the online training program offered by IRCCS Istituto Giannina Gaslini during and after COVID-19 pandemic. Methods: The Institute's Diabetes team offered an online training program to school staff of the Region during COVID-19 pandemic. A validated questionnaire was proposed to all the schools in which training meetings were held in the previous 2 years (2020-2021 and 2021-2022). The questionnaire consisted of four sections: Section 1 (Socio-demographical data), Section 2 (Theoretical knowledge on T1D), Section 3 (Confidence in handling T1D), and Section 4 (Practical skills and Glucagon Administration). To evaluate the effectiveness of the online training program, the answers between participants (Group A) and non-participants (Group B) were then compared. Results: 225 subjects from 19 schools participated in the survey. People who participated to the training (Group A, n = 53) demonstrated better T1D theoretical knowledge compared to non-participants (Group B, n = 154; p < 0.001). Group A revealed to feel more confident in the management of children with T1D during scholastic (p = 0.006) and extra-scholastic activities (p = 0.01), in supporting the children in the administration of insulin (p < 0.001) and in recognizing hypoglycaemia (p = 0.006). Moreover, results confirmed good levels of confidence among scholastic personnel who participated in the training of administration of glucagon in case of severe hypoglycaemia. Conclusion: School staff who took part in the online training program on management of T1D showed better theoretical knowledge and better confidence in the management of daily needs and possible emergencies of students with T1D. It appears essential to offer educational programs on T1D for school staff by implementing the use of technological tools to reach a wider population. Moreover, it is advisable to offer a more practical approach, involving educational nurses.


Asunto(s)
COVID-19 , Diabetes Mellitus Tipo 1 , Hipoglucemia , Niño , Humanos , Diabetes Mellitus Tipo 1/terapia , Glucagón , Pandemias , Instituciones Académicas
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