Publications by authors named "Adriana Franzese"

93 Publications

Poor Health Related Quality of Life and Unhealthy Lifestyle Habits in Weight-Loss Treatment-Seeking Youth.

Int J Environ Res Public Health 2021 Sep 4;18(17). Epub 2021 Sep 4.

Department of Movement Sciences and Wellbeing, Parthenope University of Naples, 80133 Naples, Italy.

Obesity is associated with unhealthy lifestyle behaviors and poor Health Related Quality of Life (HRQOL). The cumulative effect of lifestyle behaviors on HRQOL has been demonstrated in chronically ill adolescents, but not in adolescents with obesity. The present study aimed to assess the association between HRQOL and adherence to the Mediterranean Diet (MD) and/or low levels of physical activity (PA) in a large sample of outpatient adolescents with overweight or obesity seeking weight loss treatment. Four-hundred-twenty participants were enrolled from 10 Italian outpatient clinics. The demographics and anthropometric features, KIDMED scores, and exercise levels of the participants were collected, together with parental features. The HRQOL was assessed by the Pediatric Quality of Life Inventory (PedsQL™), Adolescents Version 4.0. PedsQL total score and functioning subscales were lower in adolescents who reported one or two unhealthy habits. Compared with the high/intermediate groups, the risk of low HRQOL was twice as high for each unit increase in BMI SDS, while the percentage was reduced by 12.2% for every unit increase in the KIDMED score and by 32.3% for each hour increase of exercise. The clustering of these two unhealthy behaviors conferred a 120% higher risk of low HRQOL. Similarly, adolescents displaying better diet quality and/or a physically more active lifestyle have better physical and psychological functioning. Further studies are needed to disclose whether these characteristics may be predictive of better adherence to weight loss treatment.
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http://dx.doi.org/10.3390/ijerph18179355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431705PMC
September 2021

An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.

Front Endocrinol (Lausanne) 2021 2;12:684011. Epub 2021 Aug 2.

Department of Translational Medical Science, Section of Pediatrics, Regional Center of Pediatric Diabetes, Federico II University of Naples, Naples, Italy.

Hypoglycemia is the result of defects/impairment in glucose homeostasis. The main etiological causes are metabolic and/or endocrine and/or other congenital disorders. Despite hypoglycemia is one of the most common emergencies in neonatal age and childhood, no consensus on the definition and diagnostic work-up exists yet. Aims of this review are to present the current age-related definitions of hypoglycemia in neonatal-pediatric age, to offer a concise and practical overview of its main causes and management and to discuss the current diagnostic-therapeutic approaches. Since a systematic and prompt approach to diagnosis and therapy is essential to prevent hypoglycemic brain injury and long-term neurological complications in children, a comprehensive diagnostic flowchart is also proposed.
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http://dx.doi.org/10.3389/fendo.2021.684011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8366517PMC
August 2021

NGS Analysis Revealed Digenic Heterozygous and Variants in a Child with Mild Hyperglycemia: A Case Report.

Diagnostics (Basel) 2021 Jun 25;11(7). Epub 2021 Jun 25.

Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", 80131 Naples, Italy.

Monogenic diabetes (MD) represents a heterogeneous group of disorders whose most frequent form is maturity-onset diabetes of the young (MODY). MD is predominantly caused by a mutation in a single gene. We report a case of a female patient with suspected MD and a positive family history for diabetes and obesity. In this patient, two gene variants have been identified by next-generation sequencing (NGS): one in the Glucokinase ( gene reported in the Human Gene Mutation Database (HGMD) and in the literature associated with GCK/MODY, and the other in the hepatocyte nuclear factor 1A () gene not previously described. The variant was also identified in the hyperglycemic father, whereas the variant was present in the mother. This new case of digenic variants identified in a hyperglycemic subject, evidences the importance of NGS analysis in patients with suspected MD. In fact, this methodology will allow us to both increase the number of diagnoses and to identify mutations in more than one gene, with a better understanding of the genetic cause, and the clinical course, of the disease.
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http://dx.doi.org/10.3390/diagnostics11071164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8306687PMC
June 2021

Albuminuric and non-albuminuric reduced eGFR phenotypes in youth with type 1 diabetes: Factors associated with cardiometabolic risk.

Nutr Metab Cardiovasc Dis 2021 06 31;31(7):2033-2041. Epub 2021 Mar 31.

Department of Translational Medical Science, Section of Pediatrics, Regional Center of Pediatric Diabetes, Federico II University of Naples, Naples, Italy.

Background And Aim: Albuminuria and reduced eGFR are hallmarks of Diabetic Kidney Disease in adults. Our aim was to analyze factors associated with albuminuric and non-albuminuric mildly reduced eGFR phenotypes in youths with type 1 diabetes.

Methods And Results: This multicenter cross-sectional study included 1549 youths (age 5-17 years) with type 1 diabetes enrolled at 14 Italian Pediatric Diabetes Centers. Albuminuria, creatinine, glycosylated hemoglobin (HbA1c), lipids, blood pressure (BP), neutrophils (N) and lymphocytes (L) count were analyzed. Uric acid (UA) was available in 848 individuals. Estimated GFR (eGFR) was calculated using bedside Schwartz's equation. The sample was divided in three phenotypes: 1) normoalbuminuria and eGFR ≥90 mL/min/1.73 m (reference category, n = 1204), 2) albuminuric and normal GFR phenotype (n = 106), 3) non-albuminuric mildly reduced GFR (MRGFR) phenotype (eGFR 60-89 mL/min/1.73 m, n = 239). Albuminuric and non-albuminuric reduced eGFR phenotypes were significantly associated with autoimmune thyroiditis (P =0.028 and P=0.044, respectively). Albuminuric phenotype showed high risk of high HbA1c (P=0.029), high BP (P < 0.001), and low HDL-C (P =0.045) vs reference category. Non-albuminuric MRGFR phenotype showed high risk of high BP (P < 0.0001), low HDL-C (P =0.042), high Triglycerides/HDL-C ratio (P =0.019), and high UA (P < 0.0001) vs reference category.

Conclusion: Non albuminuric MRGFR phenotype is more prevalent than albuminuric phenotype and shows a worst cardiometabolic risk (CMR) profile). Both phenotypes are associated with autoimmune thyroiditis. Our data suggest to evaluate both albuminuria and eGFR earlier in type 1 diabetes to timely identify young people with altered CMR profile.
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http://dx.doi.org/10.1016/j.numecd.2021.03.019DOI Listing
June 2021

Diabetes outbreak during COVID19 lock-down in a prediabetic patient with cystic fibrosis long treated with glargine.

Ital J Pediatr 2021 Jun 2;47(1):121. Epub 2021 Jun 2.

Regional Center of Cystic Fibrosis, Department of Translational Medical Science, Section of Pediatrics, Federico II University of Naples, Naples, Italy.

Background: Cystic Fibrosis Related Diabetes (CFRD) is a frequent comorbidity of patients with Cystic Fibrosis (CF). A worsening of clinical conditions appears before CFRD. It has been demonstrated a decline in pulmonary function and nutritional status also in patients with prediabetes. Few trials show that insulin may be beneficial in prediabetic CF patients, to date guidelines do not recommend for this condition.

Case Presentation: We report a case of a patient treated with insulin glargine at 13 years, due to glycemic intolerance, and with Lumacaftor/Ivacaftor at 15 years. A reduction of pulmonary exacerbations was observed after glargine therapy, also confirmed after the starting of Lumacaftor/ Ivacaftor in this patient. Pulmonary function improved only after the first year of glargine therapy, then a deterioration appeared due to the natural history of CF lung damage. During the COVID-19 lockdown, poor adherence to care contributed to diabetes mellitus onset needing high insulin requirements. After two weeks the patient returned to prediabetic condition and his previous dose of glargine.

Conclusions: our case highlights firstly that insulin glargine has contributed to preserve him from further clinical worsening due to prediabetes in the years before pandemic, secondly the negative impact of COVID-19 lockdown on the clinical course of a chronic disease as CF.
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http://dx.doi.org/10.1186/s13052-021-01076-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8170445PMC
June 2021

Anorexia nervosa-related cardiopathy in children with physical instability: prevalence, echocardiographic characteristics and reversibility at mid-term follow-up.

Eur J Pediatr 2021 May 28. Epub 2021 May 28.

Child and Adolescent Neuropsychiatric Unit, Divison of Pediatrics, Dpt of Translational Medical Sciences, Federico II University, Naples, Italy.

Prompt detection of cardiovascular abnormalities in children with anorexia nervosa and physical instability requiring hospitalization is essential to identify patients at higher cardiovascular risk. We studied all anorexia nervosa children requiring admission at Paediatric Institute in the period 2015-2019. Anorexia nervosa cardiopathy at admission was defined by the presence of at least two of the following clinical findings: pericardial effusion, mitral regurgitation, bradycardia, mitral billowing, aortic regurgitation, altered LV morphology and ECG abnormalities. Echocardiographic data were compared with those registered at 3-8-month follow-up and with data from a healthy population. Thirty-eight anorexia nervosa children were examined. Prevalence of anorexia nervosa cardiopathy at admission was 63% (24 patients). Pericardial effusion, bradycardia and mitral regurgitation were present together in 26% of patients. Most cardiovascular changes recovered at follow-up. Anorexia nervosa cardiopathy was associated with significantly lower left ventricle end-diastolic diameters and mass, and higher E wave, E/A and E/e' ratios and left ventricle sphericity index values vs healthy population and vs anorexia nervosa children without cardiopathy (p<0.05). Left ventricle global longitudinal strain was significantly reduced only in anorexia nervosa cardiopathy patients but recovered, whereas end-diastolic diameters, E/A ratio and sphericity index values remained impaired.Conclusion: Among anorexia nervosa children requiring hospitalization, those presenting several cardiac findings together express an acute anorexia nervosa cardiopathy which is characterized by worse LV filling, geometry and subclinical myocardial deformation impairment. Despite treatment, in those patients, some alterations persist at mid-term follow-up. What is Known: • Cardiac and electrocardiographic changes are present in anorexia nervosa children at diagnosis or during stable disease, and most recover after body-weight treatment. • It is unknown if anorexia nervosa children with more severe cardiac impairment during hospitalization present higher cardiovascular-risk profile despite treatment. What is New: • In anorexia nervosa children needing hospitalization for physical reasons, prevalence of acute anorexia nervosa cardiopathy at admission is high, around 60%. • By advanced echocardiography, children with anorexia nervosa cardiopathy at admission have a worse cardiac filling, impaired cardiac geometry and systolic deformation that only partially recover at mid-term follow-up.
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http://dx.doi.org/10.1007/s00431-021-04130-yDOI Listing
May 2021

Diabetes and Prediabetes in Children With Cystic Fibrosis: A Systematic Review of the Literature and Recommendations of the Italian Society for Pediatric Endocrinology and Diabetes (ISPED).

Front Endocrinol (Lausanne) 2021 29;12:673539. Epub 2021 Apr 29.

Diabetes Unit, Bambino Gesù Children's Hospital, Rome, Italy.

Cystic fibrosis related diabetes (CFRD) is a comorbidity of cystic fibrosis (CF) that negatively impacts on its clinical course. Prediabetes is an important predictor of either CFRD development and unfavorable prognosis of CF in both pediatric and adult patients. International guidelines recommend insulin only in case of CFRD diagnosis. Whether early detection and treatment of prediabetes may contribute to improve the clinical course of CF is still debated. A subgroup of pediatric diabetologists of the Italian Society for Pediatric Endocrinology and Diabetology (ISPED) performed a systematic review of the literature based on predefined outcomes: impact of pre-diabetes on clinical outcomes and on the risk of developing CFRD; diagnosis of diabetes and pre-diabetes under 10 years of age; effectiveness of therapy on glycemic control, impact of therapy on pulmonary function and nutritional status. Thirty-one papers were selected for the analysis data presented in these papers were reported in tables sorted by outcomes, including comprehensive evidence grading according to the GRADE approach. Following the grading of the quality of the evidence, the entire ISPED diabetes study group achieved consensus for the Italian recommendations based on both evidence and clinical experience. We concluded that in patients with CF, prediabetes should be carefully considered as it can evolve into CFRD. In patients with CF and prediabetic conditions, after complete evaluation of the OGTT trend, glucometrics, glycemic values measured during pulmonary exacerbations and/or steroid therapy, early initiation of insulin therapy could have beneficial effects on clinical outcomes of patients with CF and prediabetes.
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http://dx.doi.org/10.3389/fendo.2021.673539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130616PMC
April 2021

Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding.

Front Pediatr 2021 29;9:661434. Epub 2021 Apr 29.

Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.

Wolfram syndrome (WFS) is a rare autosomal recessive neurodegenerative disease whose diagnosis requires diabetes mellitus and optic atrophy (OA). WFS includes a wide spectrum of other possible complications such as diabetes insipidus, sensorineural deafness, urinary tract problems, neurological and psychiatric disorders. Most WFS patients show type 1 syndrome (WFS1) caused by mutations in the WFS1 gene, encoding Wolframin protein, while few patients are affected by WFS type 2 (WFS2) due to a pathogenetic variants in the CISD2 gene encoding an endoplasmic reticulum intermembrane small protein. WFS2 is considered a phenotypic and genotypic variant of WFS, from which differs only for the increased risk of bleeding and presence of peptic ulcers. OA and diabetes are considered cardinal features of WFS. We hereby report the ophthalmologic evaluation in a patient, previously described, with WFS2 after 8 years of follow-up. A 20-year-old white woman was referred to our retinal center for the first time in 2012 following a diagnosis of a novel intragenic exon 2 CISD2 homozygous deletion, for the suspicion of an associated bilateral OA. Fundus examination, spectral-domain optical coherence tomography, visual field, visual evoked potentials were performed and confirmed the presence of an optic neuropathy that remained stable over 8 years follow up. A slowly progressive optic neuropathy, rather than OA can characterize patients with WFS2 and CISD2 intragenic deletion.
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http://dx.doi.org/10.3389/fped.2021.661434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116581PMC
April 2021

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.

J Public Health (Oxf) 2021 05 13. Epub 2021 May 13.

Centro di Coordinamento Malattie Rare, Regione Campania Naples 80131, Italy.

Background: The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period.

Methods: To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period.

Results: Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P < 0.001 and 37 versus 349, P < 0.001, respectively) and 2018 (117 versus 389, P < 0.001 and 37 versus 282, P < 0.001, respectively). Eighty-two among 98 rare disease experts completed the questionnaire. Diagnostic success (95%), access to diagnosis (80%) and follow-up (72%), lack of Personal Protective Equipment (60%), lack of Covid-19 guidelines (50%) and the need for home therapy (78%) were the most important issues raised during Covid-19 outbreak.

Conclusions: This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period.
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http://dx.doi.org/10.1093/pubmed/fdab137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8194710PMC
May 2021

Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors.

Diagnostics (Basel) 2021 Mar 22;11(3). Epub 2021 Mar 22.

Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", 80131 Naples, Italy.

Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population and is caused by mutations in the CF transmembrane conductance regulator () gene that encodes for a chloride/bicarbonate channel expressed on the membrane of epithelial cells of the airways and of the intestine, as well as in cells with exocrine and endocrine functions. A common nonpulmonary complication of CF is cystic fibrosis-related diabetes (CFRD), a distinct form of diabetes due to insulin insufficiency or malfunction secondary to destruction/derangement of pancreatic betacells, as well as to other factors that affect their function. The prevalence of CFRD increases with age, and 40-50% of CF adults develop the disease. Several proposed hypotheses on how CFRD develops have emerged, including exocrine-driven fibrosis and destruction of the entire pancreas, as well as contrasting theories on the direct or indirect impact of mutation on islet function. Among contributors to the development of CFRD, in addition to genotype, there are other genetic factors related and not related to type 2 diabetes. This review presents an overview of the current understanding on genetic factors associated with glucose metabolism abnormalities in CF.
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http://dx.doi.org/10.3390/diagnostics11030572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005125PMC
March 2021

The experience of living with a chronic disease in pediatrics from the mothers' narratives: The Clinical Interview on Parental Sense of Grip on the Disease.

Health Psychol Open 2020 Jul-Dec;7(2):2055102920971496. Epub 2020 Dec 8.

Department of Translational and Medical Science, Pediatric Unit, University Federico II, Naples, Italy.

The Clinical Interview on the Sense of Grip on Chronic Disease has been administered to 68 mothers of children affected by Hereditary Angioedema (C1-Inh HAE), Type 1 Diabetes (T1D), Juvenile Rheumatoid Arthritis (JRA). The objectives are to detect general features of the experience of parenting children with chronic illness as well as the specificities of this experience related to the different conditions. Four Profiles of Sense of Grip were identified: Adempitive, Controlling, Reactive, Dynamic. The Sense of Grip Interview is an effective clinical tool for understanding the characteristics of the disease in daily life, which can help clinicians to encourage family adjustment to disease.
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http://dx.doi.org/10.1177/2055102920971496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7727074PMC
December 2020

Glucose Tolerance Stages in Cystic Fibrosis Are Identified by a Unique Pattern of Defects of Beta-Cell Function.

J Clin Endocrinol Metab 2021 03;106(4):e1793-e1802

Pediatric Diabetes and Metabolic Disorders Unit, Regional Center for Pediatric Diabetes, University Hospital of Verona, Verona, Italy.

Objective: We aimed to assess the order of severity of the defects of 3 direct determinants of glucose regulation-beta-cell function, insulin clearance, and insulin sensitivity-in patients with cystic fibrosis (CF), categorized according their glucose tolerance status, including early elevation of mid-level oral glucose tolerance test (OGTT) glucose values (>140 and <200 mg/dL), referred to as AGT140.

Methods: A total of 232 CF patients aged 10 to 25 years underwent OGTT. Beta-cell function and insulin clearance were estimated by OGTT mathematical modeling and OGTT-derived biomarkers of insulin secretion and sensitivity were calculated. The association between glucometabolic variables and 5 glucose tolerance stages (normal glucose tolerance [NGT], AGT140, indeterminate glucose tolerance [INDET], impaired glucose tolerance [IGT], cystic fibrosis-related diabetes CFRD]) was assessed with a general linear model.

Results: Beta-cell function and insulin sensitivity progressively worsened across glucose tolerance stages (P < 0.001), with AGT140 patients significantly differing from NGT (all P < 0.01). AGT140 and INDET showed a degree of beta-cell dysfunction similar to IGT and CFRD, respectively (all P < 0.01). Insulin clearance was not significantly associated with glucose tolerance stages (P = 0.162). Each stage of glucose tolerance was uniquely identified by a specific combination of defects of the direct determinants of glucose regulation.

Conclusions: In CF patients, each of the 5 glucose tolerance stages shows a unique pattern of defects of the direct determinants of glucose regulation, with AGT140 patients significantly differing from NGT and being similar to IGT. These findings suggest that AGT140 should be recognized as a distinct glucose tolerance stage and that reconsideration of the grade of glucometabolic deterioration across glucose tolerance stages in CF is warranted.
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http://dx.doi.org/10.1210/clinem/dgaa932DOI Listing
March 2021

Socioeconomic Inequalities Increase the Probability of Ketoacidosis at Diagnosis of Type 1 Diabetes: A 2014-2016 Nationwide Study of 2,679 Italian Children.

Front Pediatr 2020 22;8:575020. Epub 2020 Oct 22.

Department of Women's and Children's Health, Azienda Ospedaliero Universitaria Ospedali Riuniti di Ancona Umberto I G M Lancisi G Salesi, Ancona, Italy.

This study aims to compare the frequency of Diabetic Ketoacidosis (DKA) at diagnosis in 2014-2016 with the one previously reported in 2004-2013; and to assess the association between family socioeconomic status and DKA at type 1 diabetes (T1D) diagnosis in children <15 years of age from 2014 to 2016. This nationwide, population-based, observational study included 2,679 children diagnosed with T1D from 54 Italian centers for pediatric diabetes during 2014-2016. The ISPAD criteria for DKA were used as a standard reference. The overall and by age frequency of DKA between the two time periods were compared. The association between family socioeconomic status and DKA was assessed using multiple logistic regression analysis. Nine hundred and eighty nine children had DKA (36.9, 95% CI: 35.1-38.8). The frequency of DKA was significantly lower in 2014-2016 in comparison to 2004-2013 (40.3, 95% CI: 39.3-41.4, = 0.002). The probability of having DKA at diagnosis was lower in mothers with a high level of education (OR = 0.69, 95% CI: 0.51-0.93) or a high level of occupation (OR = 0.76, 95% CI: 0.58 0.99), and in fathers with a high level of occupation (OR = 0.72, 95% CI: 0.55-0.94). Children living in Southern Italy had a higher probability of diagnosis with severe DKA than children living in Central Italy. There was a decrease in the frequency of DKA in children diagnosed with T1D under 15 years of age during 2014-2016. However, DKA frequency remains unacceptably high. This study demonstrated that socioeconomic inequalities, measured as low education and occupational levels, were associated with an increased probability of DKA at T1D diagnosis.
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http://dx.doi.org/10.3389/fped.2020.575020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7642455PMC
October 2020

CD4 T Cell Defects in a Mulibrey Patient With Specific Mutations.

Front Immunol 2020 18;11:1742. Epub 2020 Sep 18.

Laboratorio di Immunologia, Istituto per l'Endocrinologia e l'Oncologia Sperimentale "G. Salvatore", Consiglio Nazionale delle Ricerche, Naples, Italy.

Mulibrey (muscle-liver-brain-eye) syndrome (MUL) is an autosomal recessive disorder caused by mutations in the () gene, encoding for TRIM37 a member of the TRIM E3 ubiquitin ligase protein family. MUL patients are characterized by growth retardation, dysmorphic features, and a wide range of abnormalities affecting different organs. However, T-cell abnormalities have not been observed in MUL subjects, to date. Here we described the immunological features of a MUL child carrying recently identified mutations, a 17q22 deletion of maternal origin combined with a variant of paternal origin. Here we found quantitative and functional defects in CD4 T cells from this MUL case. Low levels of TRIM37 protein were specifically detected in CD4 T cells of MUL patient and associated with their altered proliferation and cytokine production. Of note, both CD4 and CD8 T lymphocytes of MUL child displayed an effector memory phenotype compared with healthy children. This clinical case research highlighted the possible role of TRIM37 in the control of immune cell number and function, especially in CD4 T cells. Finally, this study may contribute to the novel mechanistic studies aim of identifying, in depth, the role of the TRIM37 protein in the immune system.
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http://dx.doi.org/10.3389/fimmu.2020.01742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530177PMC
April 2021

Long-term glycemic control and glucose variability assessed with continuous glucose monitoring in a pediatric population with type 1 diabetes: Determination of optimal sampling duration.

Pediatr Diabetes 2020 12 28;21(8):1485-1492. Epub 2020 Sep 28.

Pediatric Diabetes and Metabolic Disorders Unit, Regional Center for Pediatric Diabetes, University City Hospital of Verona, Verona, Italy.

Background: No studies have assessed if 2-week of continuous glucose monitoring (CGM) data provide good estimation of long-term glycemic control and glucose variability (GV) in pediatric patients with type 1 diabetes (T1D) as in adults.

Methods: Six hundred fifty-four T1D pediatric patients were enrolled and 12-weeks of CGM data, before HbA1c measurement, were collected. Metrics of glycemic control and GV in incremental sampling periods were calculated. The agreement between metrics calculated in the sampling periods and the full 12-week period was assessed with correlation analysis (R ), median relative absolute difference (RAD) or absolute difference in the entire study populations and subjects stratified by age, pubertal status, insulin therapy (MDI,CSII), type of CGM (intermittently scanned [isCGM], real-time [rtCGM]), and HbA1c level.

Results: Correlations with metrics of the full 12-week period improved by extending the sampling periods. R values close to 0.90 using 4-week period were significantly higher than 2-week period, particularly for coefficient of variation, mean glucose SD, percentage of time below the range <70 mg/dL. A significant difference was found comparing the median RAD of 2- and 4-week, especially for mean glucose and coefficient of variation. Similar results were obtained analyzing subjects according to age and pubertal status, whereas in patients with HbA1c ≤7%, using rtCGM and CSII significant correlations were found for 2-week period.

Conclusions: In T1D pediatric subjects, 4-week CGM data better reflects long-term glycemic control and GV in MDI and isCGM users. The 2-week period may be acceptably accurate in CSII and rtCGM users, especially in those with good glycometabolic control.
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http://dx.doi.org/10.1111/pedi.13115DOI Listing
December 2020

Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience.

Ital J Pediatr 2020 Sep 14;46(1):131. Epub 2020 Sep 14.

Department of Translational Medical Science, Section of Pediatrics, Federico II University of Naples, Via Sergio Pansini 5, 80131, Naples, Italy.

Background: Congenital Hyperinsulinism typically occurs with a neonatal hypoglycemia but can appear even in childhood or in adolescence with different types of glucose metabolism derangements. Current diagnostic algorithms don't take into account cases with a late presentation.

Patients And Methods: Clinical and laboratory data of twenty-two subjects diagnosed at Federico II University of Naples have been described: patients have been divided according to the molecular defect into channel defects, metabolic defects and unidentified molecular defects. A particular focus has been made on three cases with a late presentation.

Results And Conclusions: Late presentation cases may not be identified by previous diagnostic algorithms. Consequently, it seems appropriate to design a new flow-chart starting from the age of presentation, also considering that late presentation cases can show glucose metabolism derangements other than hypoglycaemic crises such as diabetes, glucose intolerance, postprandial hypoglycaemia and gestational diabetes.
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http://dx.doi.org/10.1186/s13052-020-00894-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490857PMC
September 2020

Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents' experiences through a multicentre narrative medicine research.

BMJ Open 2020 08 6;10(8):e036502. Epub 2020 Aug 6.

Healthcare Area, Fondazione ISTUD, Baveno, Verbano-Cusio-Ossola, Italy.

Objectives: Prader-Willi syndrome (PWS) significantly impacts health-related quality of life; however, its relational and existential aspects remain unknown in Italian clinical and social debate. The project aimed to investigate the impact of PWS on illness experience through narrative medicine (NM) to understand the daily life, needs and resources of patients with PWS and their caregivers, and to furnish insights for clinical practice.

Design And Setting: The project involved 10 medical centres of the Italian Network for Rare Diseases and PWS family associations and targeted underage and adult patients with PWS and their caregivers. Written interviews, composed by a sociodemographic survey and a narrative, were collected through the project's website. Three dedicated illness plots employed evocative and open words to facilitate individual expression and to encourage reflection. Narratives were analysed through NVivo software. Researchers discussed the results with the project's steering committee.

Participants: Twenty-one children and adolescents and 34 adults with PWS joined the project, as well as 138 caregivers. A PWS diagnosis or the caregiving of a patient with PWS older than 5 years represented the eligibility criteria, as well as the willingness to share their illness experience by writing and the ability to communicate in Italian.

Results: The analysis of narratives led to understanding the PWS social and relational issues concerning diagnosis and current management, PWS daily experiences and social contexts, PWS implications in the working sphere and participants' future perspectives. Narratives demonstrated that PWS management affects relationships and work-life balance and that social stigma remains present.

Conclusion: The project represented the first effort to investigate the impact of PWS on illness experience in Italy through NM while considering the perspectives of patients with PWS and their caregivers. The findings indicated that a multiprofessional approach is fundamental to ensure adequate treatment and provided elements for its improvement.
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http://dx.doi.org/10.1136/bmjopen-2019-036502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7412587PMC
August 2020

Plasma circulating miR-23~27~24 clusters correlate with the immunometabolic derangement and predict C-peptide loss in children with type 1 diabetes.

Diabetologia 2020 12 29;63(12):2699-2712. Epub 2020 Jul 29.

IRCCS MultiMedica, via G. Fantoli 16/15, 20138, Milan, Italy.

Aims/hypothesis: We aimed to analyse the association between plasma circulating microRNAs (miRNAs) and the immunometabolic profile in children with type 1 diabetes and to identify a composite signature of miRNAs/immunometabolic factors able to predict type 1 diabetes progression.

Methods: Plasma samples were obtained from children at diagnosis of type 1 diabetes (n = 88) and at 12 (n = 32) and 24 (n = 30) months after disease onset and from healthy control children with similar sex and age distribution (n = 47). We quantified 60 robustly expressed plasma circulating miRNAs by quantitative RT-PCR and nine plasma immunometabolic factors with a recognised role at the interface of metabolic and immune alterations in type 1 diabetes. Based on fasting C-peptide loss over time, children with type 1 diabetes were stratified into the following groups: those who had lost >90% of C-peptide compared with diagnosis level; those who had lost <10% of C-peptide; those showing an intermediate C-peptide loss. To evaluate the modulation of plasma circulating miRNAs during the course of type 1 diabetes, logistic regression models were implemented and the correlation between miRNAs and immunometabolic factors was also assessed. Results were then validated in an independent cohort of children with recent-onset type 1 diabetes (n = 18). The prognostic value of the identified plasma signature was tested by a neural network-based model.

Results: Plasma circulating miR-23~27~24 clusters (miR-23a-3p, miR-23b-3p, miR-24-3p, miR-27a-3p and miR-27b-3p) were upmodulated upon type 1 diabetes progression, showed positive correlation with osteoprotegerin (OPG) and were negatively correlated with soluble CD40 ligand, resistin, myeloperoxidase and soluble TNF receptor in children with type 1 diabetes but not in healthy children. The combination of plasma circulating miR-23a-3p, miR-23b-3p, miR-24-3p, miR-27b-3p and OPG, quantified at disease onset, showed a significant capability to predict the decline in insulin secretion 12 months after disease diagnosis in two independent cohorts of children with type 1 diabetes.

Conclusions/interpretations: We have pinpointed a novel miR-23a-3p/miR-23b-3p/miR-24-3p/miR-27b-3p/OPG plasma signature that may be developed into a novel blood-based method to better stratify patients with type 1 diabetes and predict C-peptide loss.
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http://dx.doi.org/10.1007/s00125-020-05237-xDOI Listing
December 2020

T1D progression is associated with loss of CD3CD56 regulatory T cells that control CD8 T cell effector functions.

Nat Metab 2020 02 17;2(2):142-152. Epub 2020 Feb 17.

Laboratorio di Immunologia, Istituto per l'Endocrinologia e l'Oncologia Sperimentale G. Salvatore, Consiglio Nazionale delle Ricerche, Naples, Italy.

An unresolved issue in autoimmunity is the lack of surrogate biomarkers of immunological self-tolerance for disease monitoring. Here, we show that peripheral frequency of a regulatory T cell population, characterized by the co-expression of CD3 and CD56 molecules (T), is reduced in subjects with new-onset type 1 diabetes (T1D). In three independent T1D cohorts, we find that low frequency of circulating T cells is associated with reduced β-cell function and with the presence of diabetic ketoacidosis. As autoreactive CD8 T cells mediate disruption of insulin-producing β-cells, we demonstrate that T cells can suppress CD8 T cell functions by reducing levels of intracellular reactive oxygen species. The suppressive function, phenotype and transcriptional signature of T cells are also altered in T1D children. Together, our findings indicate that T cells constitute a regulatory cell population that controls CD8 effector functions, whose peripheral frequency may represent a traceable biomarker for monitoring immunological self-tolerance in T1D.
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http://dx.doi.org/10.1038/s42255-020-0173-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272221PMC
February 2020

Prader-Willi Syndrome: Role of Bariatric Surgery in Two Adolescents with Obesity.

Obes Surg 2020 Nov;30(11):4602-4604

Department of Translational Medical Sciences, Section of Pediatrics, University Federico II, Naples, Italy.

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http://dx.doi.org/10.1007/s11695-020-04708-9DOI Listing
November 2020

Blood Co-Circulating Extracellular microRNAs and Immune Cell Subsets Associate with Type 1 Diabetes Severity.

Int J Mol Sci 2020 Jan 11;21(2). Epub 2020 Jan 11.

IRCCS MultiMedica, 20138 Milan, Italy.

Immune cell subsets and microRNAs have been independently proposed as type 1 diabetes (T1D) diagnostic and/or prognostic biomarkers. Here, we aimed to analyze the relationships between peripheral blood circulating immune cell subsets, plasmatic microRNAs, and T1D. Blood samples were obtained from both children with T1D at diagnosis and age-sex matched healthy controls. Then, immunophenotype assessed by flow cytometry was coupled with the quantification of 60 plasmatic microRNAs by quantitative RT-PCR. The associations between immune cell frequency, plasmatic microRNAs, and the parameters of pancreatic loss, glycemic control, and diabetic ketoacidosis were assessed by logistic regression models and correlation analyses. We found that the increase in specific plasmatic microRNAs was associated with T1D disease onset (let-7c-5p, let-7d-5p, let-7f-5p, let-7i-5p, miR-146a-5p, miR-423-3p, and miR-423-5p), serum C-peptide concentration (miR-142-5p and miR-29c-3p), glycated hemoglobin (miR-26a-5p and miR-223-3p) and the presence of ketoacidosis (miR-29c-3p) more strongly than the evaluated immune cell subset frequency. Some of these plasmatic microRNAs were shown to positively correlate with numbers of blood circulating B lymphocytes (miR-142-5p) and CD4CD45RO (miR-146a-5p and miR-223-3p) and CD4CD25 cells (miR-423-3p and miR-223-3p) in children with T1D but not in healthy controls, suggesting a disease-specific microRNA association with immune dysregulation in T1D. In conclusion, our results suggest that, while blood co-circulating extracellular microRNAs and immune cell subsets may be biologically linked, microRNAs may better provide powerful information about T1D onset and severity.
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http://dx.doi.org/10.3390/ijms21020477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013659PMC
January 2020

Alcohol consumption or cigarette smoking and cardiovascular disease risk in youth with type 1 diabetes.

Acta Diabetol 2019 Dec 6;56(12):1315-1321. Epub 2019 Sep 6.

Department of Translational Medical Science, Section of Pediatrics, Regional Center for Pediatric Diabetes, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy.

Aim: To assess the association between alcohol consumption and/or cigarette smoking with other unhealthy behaviors and clinical cardiovascular risk factors in youth with type 1 diabetes.

Methods: Two hundred and twenty-eight youth with type 1 diabetes (age 13-19 years) were consecutively enrolled in three Regional Pediatric Diabetes Centers in Italy. Demographic, anthropometric, lifestyle (adherence to the Mediterranean diet pattern and sports participation) and laboratory parameters were compared among youth reporting isolated or combined alcohol consumption and/or cigarette smoking.

Results: Ten percent of the youth reported alcohol consumption, 10% cigarette smoking and 6% both alcohol and cigarette use; 74% did not report alcohol or cigarette use. Compared to non-drinker non-smoker youth, smokers showed significantly higher percentages of each of the behavioral and clinical cardiovascular risk factors. Drinkers showed a significantly higher proportion of abdominal adiposity, dyslipidemia and poor adherence to the Mediterranean diet. Alcohol consumption was independently associated with both dyslipidemia and high glycosylated hemoglobin.

Conclusions: Our findings emphasize the need to increase the awareness of youth with T1D about the negative impact of alcohol drinking on cardiovascular risk, since the effects of alcohol might be underestimated with respect to the well-known detrimental effects of smoking. Clustering of unhealthy lifestyle should be discouraged in type 1 diabetes youth in order to promote cardiovascular protection.
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http://dx.doi.org/10.1007/s00592-019-01415-5DOI Listing
December 2019

Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.

Growth Horm IGF Res 2019 Oct - Dec;48-49:9-15. Epub 2019 Aug 28.

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

Pediatric patients with Prader-Willi syndrome (PWS) can be treated with recombinant human GH (rhGH). These patients are highly sensitive to rhGH and the standard doses suggested by the international guidelines often result in IGF-1 above the normal range. We aimed to evaluate 1 the proper rhGH dose to optimize auxological outcomes and to avoid potential overtreatment, and 2 which patients are more sensitive to rhGH. In this multicenter real-life study, we recruited 215 patients with PWS older than 1 year, on rhGH at least for 6 months, from Italian Centers for PWS care. We collected auxological parameters, rhGH dose, IGF-1 at recruitment and (when available) at start of treatment. The rhGH dose was 4.3 (0.7/8.4) mg/m/week. At recruitment, IGF-1 was normal in 72.1% and elevated in 27.9% of the patients. In the group of 115 patients with IGF-1 available at start of rhGH, normal pretreatment IGF-1 and uniparental disomy were associated with elevated IGF-1 during the therapy. No difference in height and growth velocity was found between patients treated with the highest and the lowest range dose. The rhGH dose prescribed in Italy seems lower than the recommended one. Normal pretreatment IGF-1 and uniparental disomy are risk factors for elevated IGF-1. The latter seems to be associated with higher sensitivity to GH. In case of these risk factors, we recommend a more accurate titration of the dose to avoid overtreatment and its potential side effects.
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http://dx.doi.org/10.1016/j.ghir.2019.08.003DOI Listing
May 2020

HLA-DQA1 and HLA-DQB1 Alleles, Conferring Susceptibility to Celiac Disease and Type 1 Diabetes, are More Expressed Than Non-Predisposing Alleles and are Coordinately Regulated.

Cells 2019 07 19;8(7). Epub 2019 Jul 19.

Institute of Genetics and Biophysics "Adriano Buzzati Traverso"-CNR, 80131 Naples, Italy.

HLA DQA1*05 and DQB1*02 alleles encoding the DQ2.5 molecule and HLA DQA1*03 and DQB1*03 alleles encoding DQ8 molecules are strongly associated with celiac disease (CD) and type 1 diabetes (T1D), two common autoimmune diseases (AD). We previously demonstrated that DQ2.5 genes showed a higher expression with respect to non-CD associated alleles in heterozygous DQ2.5 positive (HLA DR1/DR3) antigen presenting cells (APC) of CD patients. This differential expression affected the level of the encoded DQ2.5 molecules on the APC surface and established the strength of gluten-specific CD4 T cells response. Here, we expanded the expression analysis of risk alleles in patients affected by T1D or by T1D and CD comorbidity. In agreement with previous findings, we found that DQ2.5 and DQ8 risk alleles are more expressed than non-associated alleles also in T1D patients and favor the self-antigen presentation. To investigate the mechanism causing the high expression of risk alleles, we focused on HLA DQA1*05 and DQB1*02 alleles and, by ectopic expression of a single mRNA, we modified the quantitative equilibrium among the two transcripts. After transfection of DR7/DR14 B-LCL with HLA-DQA1*05 cDNA, we observed an overexpression of the endogenous DQB1*02 allele. The DQ2.5 heterodimer synthesized was functional and able to present gluten antigens to cognate CD4 T cells. Our results indicated that the high expression of alpha and beta transcripts, encoding for the DQ2.5 heterodimeric molecules, was strictly coordinated by a mechanism acting at a transcriptional level. These findings suggested that, in addition to the predisposing HLA-DQ genotype, also the expression of risk alleles contributed to the establishment of autoimmunity.
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http://dx.doi.org/10.3390/cells8070751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678473PMC
July 2019

Non-albuminuric reduced eGFR phenotype in children and adolescents with type 1 diabetes.

Diabetes Res Clin Pract 2019 Sep 4;155:107781. Epub 2019 Jul 4.

Pediatric Diabetes Unit, Department of Translational Medical Science, Section of Pediatrics, Federico II University of Naples, Naples, Italy.

Aims: To analyze the factors associated with non-albuminuric reduced estimated glomerular filtration rate (NAeGFR) phenotype in young people with type 1 diabetes (T1DM).

Methods: In this cross-sectional study were enrolled 140 outpatient diabetic children (age 7-18 years), consecutively observed in the period 2016-2017. Eighteen subjects with microalbuminuria (defined as albumin excretion rate ≥ 30 mg/24 h) were excluded. Fasting HbA1, uric acid (UA), neutrophils and lymphocytes count were recorded. Estimated glomerular filtration rate (eGFR) was calculated using the Schwartz's bed-side formula and reduced eGFR was defined by a value <90 mL/min/1.73 m.

Results: Out of 122 subjects analyzed, 76 (62%) showed normal eGFR and 46 (38%) showed NAeGFR phenotype. They were characterized by higher prevalence of male sex (57% vs 33%, p = 0.010), autoimmune diseases (26% vs 12%, p = 0.043), high UA levels (4.0 ± 0.9 vs 3.3 ± 0.9 mg/dl, p < 0.0001) and high Neutrophils/Lymphocytes ratio (1.5 [1.2-2.0] vs 1.3 [1.0-1.8], p = 0.023).

Conclusions: In our population, the prevalence on NAeGFR phenotype is 38% and it is associated with male sex, high levels of UA, presence of other autoimmune diseases and low-grade inflammation. It should encourage pediatricians to monitor early both eGFR and UA in order to intercept diabetic youth more likely prone to develop progressive renal impairment.
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http://dx.doi.org/10.1016/j.diabres.2019.07.005DOI Listing
September 2019

Classroom active breaks: a feasibility study in Southern Italy.

Health Promot Int 2020 Apr;35(2):373-380

Department of Movement Sciences and Wellbeing, University of Naples "Parthenope", Via Medina 40, Naples 80133, Italy.

Though classroom time has been identified as a contributing factor to sedentary behavior, school has been recognized as the main educational setting providing physical activity (PA) opportunities. The purpose of this study was to develop and evaluate the feasibility of a classroom-based intervention which integrates PA during the school time, and assess its potential effect on reducing inactivity in primary school children. The intervention was performed in a sample of 47 children attending a primary school in the south of Italy and it was structured in two sessions of classroom active breaks (CABs) in three school days a week, shared with and supervised by the teachers. CABs showed an overall potential positive effect on the reduction of inactivity of ∼12 min and an equivalent increase in PA levels, of which 5 min were of moderate/vigorous intensity. Girls showed lower time spent in light and moderate PA and higher amount of inactivity than boys and responded better to the intervention. The satisfaction of children and teachers was high. CABs program is a safe tool to reduce inactivity and increase moderate/vigorous PA. Designing structured exercise breaks adapted in a flexible way to meet the needs of the school curriculum program may increase the feasibility of such PA program in the schools.
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http://dx.doi.org/10.1093/heapro/daz033DOI Listing
April 2020

Non-Diabetic Hyperglycemia in the Pediatric Age: Why, How, and When to Treat?

Curr Diab Rep 2018 10 29;18(12):140. Epub 2018 Oct 29.

Department of Translational Medical Science (DISMET), Section of Pediatrics, University of Naples Federico II, Naples, Italy.

Purpose Of Review: Non-diabetic hyperglycemia (NDHY) is a pathological condition that is not yet well known. The aim of this review is to examine approaches for management of this condition.

Recent Findings: While it is well known that persistent hyperglycemia in diabetes affects immune response and risk for diabetes-related micro- and macrovascular complications, little is known about the biological effects of transient NDHY, particularly in the pediatric age group. Stress HY (SHY) is typically defined as blood glucose > 8.33 mmol/L (150 mg/dL) during physical stress, resolving spontaneously after dissipation of acute illness in patients without known diabetes. Based on the literature and clinical practice, two situations can be classified: (1) SHY1, which occurs during severe and prolonged illness and under serious life-threatening conditions, mainly in emergency situations and in resuscitation areas; and (2) SHY2, which occurs during acute illness, mainly in non-life-threatening conditions. Furthermore, (NDHY) among pediatric patients can be induced by drugs; the most frequent conditions are secondary to (1) steroid therapy and (2) antineoplastic/immunosuppressive therapy.
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http://dx.doi.org/10.1007/s11892-018-1115-0DOI Listing
October 2018

Diagnosis, treatment and prevention of pediatric obesity: consensus position statement of the Italian Society for Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics.

Ital J Pediatr 2018 Jul 31;44(1):88. Epub 2018 Jul 31.

Department of Neurosurgery and Rehabilitation, AORN Santobono Pausilipon, Naples, Italy.

The Italian Consensus Position Statement on Diagnosis, Treatment and Prevention of Obesity in Children and Adolescents integrates and updates the previous guidelines to deliver an evidence based approach to the disease. The following areas were reviewed: (1) obesity definition and causes of secondary obesity; (2) physical and psychosocial comorbidities; (3) treatment and care settings; (4) prevention.The main novelties deriving from the Italian experience lie in the definition, screening of the cardiometabolic and hepatic risk factors and the endorsement of a staged approach to treatment. The evidence based efficacy of behavioral intervention versus pharmacological or surgical treatments is reported. Lastly, the prevention by promoting healthful diet, physical activity, sleep pattern, and environment is strongly recommended since the intrauterine phase.
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http://dx.doi.org/10.1186/s13052-018-0525-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6069785PMC
July 2018

Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study.

Orphanet J Rare Dis 2018 07 13;13(1):115. Epub 2018 Jul 13.

Department of Humanities, University Federico II, via Porta di Massa 1, 80133, Naples, Italy.

Background: Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent edema of unpredictable frequency and severity. Stress, anxiety, and low mood are among the triggering factors most frequently reported. Impaired regulation and processing of emotions, also known as alexithymia, may influence outcomes. The aim of this study was to confirm the presence of alexithymia and stress in children with C1-INH-HAE, to determine whether they are also present in children affected by other chronic diseases, and to investigate their relationship with C1-INH-HAE severity. Data from children with C1-INH-HAE (n = 28) from four reference centers in Italy were compared with data from children with type 1 diabetes (T1D; n = 23) and rheumatoid arthritis (RA; n = 25). Alexithymia was assessed using the Alexithymia Questionnaire for Children scale; perceived stress was assessed using the Coddington Life Event Scale for Children (CLES-C).

Results: Mean age (standard deviation [SD]) in the C1-INH-HAE, T1D, and RA groups was 11.8 (3.3), 11.7 (2.9), and 11.1 (2.6) years, respectively. Mean C1-INH-HAE severity score was 5.9 (2.1), indicating moderate disease. Alexithymia scores were similar among disease groups and suggestive of difficulties in identifying and describing emotions; CLES-C scores tended to be worse in C1-INH-HAE children. C1-INH-HAE severity was found to correlate significantly and positively with alexithymia (p = 0.046), but not with perceived stress. Alexithymia correlated positively with perceived stress.

Conclusions: Alexithymia is common in children with chronic diseases. In C1-INH-HAE, it may result in increased perceived stress and act as a trigger of edema attacks. Comprehensive management of C1-INH-HAE children should consider psychological factors.
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http://dx.doi.org/10.1186/s13023-018-0871-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043996PMC
July 2018
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