Chiara Mameli

Ospedale Luigi Sacco · Unità di Pediatria

Purpose Omnitrope® (a somatropin biosimilar), used to treat growth disturbances, is considered to have a good safety profile in children. Here, we present the analysis of final data of the Italian cohort of the PAtients TReated with Omnitrope® (PATRO) Children study. Methods This multicenter, open-label, longitudinal, post-marketing surveillance s...

The Tandem t:slim X2 insulin pump is a second-generation automated insulin delivery system with Control-IQ technology. It consists of an X2 insulin pump, an integrated Dexcom sensor, and an embedded ‘Control-IQ’ algorithm, which predicts glucose levels 30 min in the future, adapting the programmed basal insulin rates to get glucose levels between 1...

Introduction & Objective: Approximately 50% of patients with new-onset Type 1 Diabetes (T1D) experience a temporary recovery in pancreatic β-cell function, termed the "honeymoon" (HM) phase, lasting approximately 7-9 months on average, and only rarely extending to years. This phase provides a crucial window for interventions to preserve insulin sec...

Objective Growth hormone deficiency (GHD) is the most common pituitary hormone deficiency and is one of the main causes of short stature in children and adolescents. The aim of this study is to evaluate the epidemiology of pediatric GHD worldwide, since no other systematic review has been published so far. Methods We searched PubMed, Embase, and W...

Objectives A connection between thyroid hormones (THs) and diverse metabolic pathways has been reported. We evaluated thyroid function and tissue sensitivity to THs in children and adolescents with T1D in comparison to euthyroid controls. Additionally, we investigate whether a relationship exists between sensitivity indices and metabolic parameters...

Background Recurrent Upper Respiratory Tract Infections (R-URTIs) pose a significant challenge in pediatric healthcare, affecting both children and their families. This study aimed to investigate the prevalence, risk factors, and clinical implications of R-URTI in children aged 0–5 years. Methods This observational study involved a sample of 483 c...

Context There are only a few nationwide studies on boys with central precocious puberty (CPP) and the last Italian study is a case series of 45 boys that dates back to 2000. Objective We aimed to evaluate the causes of CPP in boys diagnosed during the last 2 decades in Italy and the relative frequency of forms with associated central nervous syste...

The MiniMed™ 780G is a second-generation automated insulin delivery system that implements a modified proportional–integral–derivative algorithm with some features of an MD-Logic artificial pancreas algorithm. The system may deliver automatic correction boluses up to every 5 min, and it allows the user to choose between three glucose target setpoin...

Background: Few data are available in children with type 1 diabetes (T1D) using automated insulin delivery systems during physical activity (PA). We evaluated the time in range (TIR) during 2-hours of outdoor PA in children using t:slim X2 with Control-IQ® technology. Materials and methods: Caucasian children and adolescents, aged 9-18 years usi...

Context Obesity has emerged as a global health issue for the pediatric population, increasing the need to investigate physiopathological aspects to prevent the appearance of its cardiometabolic complications. Chrononutrition is a field of research in nutritional sciences that investigates the health impact of 3 different dimensions of feeding behav...

Type 1 diabetes (T1D) impacts lung function and exercise capacity in adults, but limited information is available in children. We hypothesize that T1D causes alterations in pulmonary function and cardiorespiratory fitness, i.e., exercise capacity, at early stages of the disease, due to the presence of inflammation and vascular damage. Therefore, we...

Background Antibiotic overuse in children is a significant public health concern, as it can lead to the emergence and spread of antibiotic-resistant bacteria. Although respiratory infections account for most antibiotic prescriptions in children, many of these infections are viral and do not require antibiotics. In this study, we aimed to investigat...

Background: Emerging technologies have demonstrated outstanding potential in improving healthcare, yet their full integration remains a challenge for all medical specialties, including pediatrics. To support the swift implementation of technologies, we identified the current trends through a bibliometric review, and we conducted a survey on Italia...

Type 1 diabetes (T1D) is the most frequent form of diabetes in pediatric age, affecting more than 1.5 million people younger than 20 years worldwide. Early and intensive control of diabetes will allow for continued protection against both microvascular and macrovascular complications, enhances growth, and ensures normal pubertal development. In the...

Background Emerging technologies have demonstrated outstanding potential in improving healthcare, yet their full integration remains a challenge for all medical specialties, including pediatrics. To support the swift implementation of technologies, we identified the current trends through a bibliometric review, and we conducted a survey on Italian...

We evaluated the efficacy, safety, adherence, quality of life (QoL) and cost-effectiveness of long-acting growth hormone (LAGH) vs daily growth hormone (GH) preparations in the treatment of growth hormone deficiency (GHD) in children. Systematic searches were performed in PubMed, Embase and Web of Science up to July 2022 on randomized and non-rando...

Currently, the mechanisms underlying sensory perception and sensory performance in children with food allergies are far from being understood. As well, only recently, single research afforded the oral host-commensal milieu, addressing oral microbial communities in children with peanut allergies. To bridge the current gaps in knowledge both in the s...

Hybrid closed loop (HCL) systems are the combination of a pump for insulin delivery and a glucose sensor for continuous glucose monitoring. These systems are managed by an algorithm, which delivers insulin on the basis of the interstitial glucose levels. The MiniMed™ 670G system was the first HCL system available for clinical purpose. In this paper...

Introduction X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the ABCD1 gene. The main phenotypes observed in men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropathy, and cerebral ALD (cALD). Cerebral ALD consists of a demyelinating progressive cerebral white matter (WM) d...

Lipodystrophy is a general definition containing different pathologies which, except for those observed in insulin-treated subjects falling outside the scope of this paper, are characterized by total or partial lack of body fat, that, according to the amount of missing adipose tissue, are divided in generalized or partial lipodystrophy. These disea...

Introduction: Autoimmune diseases account for a cumulative overall prevalence of about 3-5% worlwide. Among them, autoimmune thyroid diseases (ATDs) are the most common and comprise two main entities: Hashimoto's thyroiditis (HT) and Graves-Basedow disease (GD). The pathogenesis of ATDs remains not fully elucidated, however the role of microbioma...

This cohort study analyzes changes to the time with glucose level in target range among children and adolescents with type 1 diabetes after a software update to a closed-loop glucose control system.

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Objective: The following report describes the evaluation of the ISPAD Science School for Physicians (ISSP) and for Healthcare Professionals (ISSHP) in terms of their efficiency and success. Methods: All past attendees from 2000-2019 ISSP and 2004-2019 ISSHP programs were invited to respond to an online survey to assess perceived outcomes of the...

The level of secretory acid sphingomyelinase (S-ASM), a key enzyme in the sphingolipid metabolism, is elevated in a variety of human diseases, including in the serum of obese adults. Alterations in S-ASM were also found to induce morphological changes in erythrocytes. Consequently, the inhibition of S-ASM by functional Inhibitors of ASM (FIASMA) ma...

Aims: Abnormalities in the oculomotor system may represent an early sign of diabetic neuropathy and are currently poorly studied. We designed an eye-tracking-based test to evaluate oculomotor function in patients with type 1 diabetes. Methods: We used the SRLab-Tobii TX300 Eye tracker®, an eye-tracking device, coupled with software that we devel...

Aim/Hypothesis To compare the frequency of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes in Italy during the COVID-19 pandemic in 2020 with the frequency of DKA during 2017-2019. Methods Forty-seven pediatric diabetes centers caring for >90% of young people with diabetes in Italy recruited 4,237 newly diagnosed children with type 1 d...

Iodine is an essential element for the production of thyroid hormones (THs). Both deficient and excess iodine intakes may precipitate in adverse thyroidal events. Radioactive iodine (RI) is a common byproduct of nuclear fission processes. During nuclear emergencies RI may be released in a plume, or cloud, contaminating the environment. If inhaled o...

Klinefelter syndrome is the most common sex chromosomal aneuploidy in males. It is well known that patients with this syndrome have greater mortality and morbidity compared to the general population due to cardiovascular diseases and endocrine metabolism disorders. This augmented risk is due both to hypogonadism and to the syndrome itself. Therefor...

Purpose: We aimed to evaluate the near-final height (nFHt) in a large cohort of pediatricpatients with growth hormone deficiency (GHD) and to elaborate a new predictive method of nFHt. Methods: We recruited GHD patients diagnosed between 1987 and 2014 and followed-up until nFHt. To predict the values of nFHt, each predictor was run in a univaria...

Patients with type 1 diabetes (T1D) may develop severe outcomes during COVID-19 disease, but their ability to generate an immune response against the SARS-CoV-2 messenger RNA (mRNA) vaccines remains to be established. Here we evaluated the safety, immunogenicity and glycometabolic effects of the SARS-CoV-2 mRNA vaccines in patients with T1D. A tota...

Objective: To evaluate the six-month impact of the advanced automated functions of a closed-loop control (CLC) system (Control-IQ) and a virtual educational camp (vEC) on emotions and time in range (TIR) of children and adolescents with type 1 diabetes. Methods: Children and their parents participated in a three-day vEC. Clinical, glucose, and e...

Introduction: The incidence of acute respiratory tract infections (ARTIs) in children is difficult to estimate because they are typically treated in outpatient settings and the majority of epidemiological data originate from hospital settings and refer to the most severe illnesses. Therefore, the incidence of ARTIs in a real-world setting remains...

Puberty is a critical phase of growth and development characterized by a complex process regulated by the neuroendocrine system. Precocious puberty (PP) is defined as the appearance of physical and hormonal signs of pubertal development at an earlier age than is considered normal. The timing of puberty has important public health, clinical, and soc...

An increased incidence of noninfectious chronic diseases, such as obesity, diabetes, and allergies, has been noted in the last century, especially in the last 2 to 3 generations. Evidence suggested that the interrelation among these chronic conditions in pediatric age (e.g., children and adolescents aged 4-16 y) is complex and still unknown, reinfo...

Liang-Wang syndrome (LIWAS) is a polymalformative syndrome first described in 2019 caused by heterozygous mutation of the KCNMA1 gene encoding the Ca2+ and voltage-activated K+ channel (BKC). The KCNMA1 variant p.(Gly356Arg) abolishes the function of BKC and blocks the generation of K+ current. The phenotype of this variant includes developmental d...

Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-mont...

Acanthosis nigricans (AN) is associated with obesity and type 2 diabetes, where insulin resistance (IR) is considered a predisposing factor. IR can also affect patients with type 1 diabetes (T1D). We evaluated the prevalence of AN in patients with T1D compared to subjects with obesity in order to define the interplay between IR and excess weight. W...

Background: The Italian Lombardy region has been the epicenter of COVID-19 since February 2020. This study analyses the epidemiology of pediatric type 1 diabetes (T1D) onset during the first two pandemic waves and three previous years. Methods: All the 13 pediatric diabetes centers in Lombardy prospectively evaluated charts of children at T1D onse...

Aim: Education maximizes the benefits of new diabetes technology. Here we evaluated 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 multicenter study of children and adolescents with type 1 di...

Aim: Education maximizes the benefits of new diabetes technology. Here we evaluated 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 multicenter study of children and adolescents with type 1 diabe...

Aim We explored the physical activity (PA) level and the variation in glycaemic control in children with type 1 diabetes (T1D) before and during the lockdown. Then, we proposed an online training program supported by sport-science specialists. Methods Parents of children with T1D (<18 years) filled out an online survey. Anthropometric characterist...

Introduction Both obesity and diabetes play a significant role in reproductive disorders in women and insulin resistance (IR) is a confirmed trait d’union. We evaluated the relationship between IR and an established ovarian reserve biomarker such as anti-mullerian hormone (AMH) together with other potential modulators of ovarian physiology (adipone...

New indexes of adiposity have been introduced to evaluate body-fat distribution and cardiometabolic risk. However, data on the correlation between Insulin Resistance (IR) and these new indexes are limited. We therefore evaluated the relationship between IR and adiposity indexes in children and adolescents with obesity, focusing on gender difference...

An interaction between metabolic glucose impairment and coronavirus disease 2019 is reported. The development of a severe multisystem inflammatory syndrome in children (MIS-C) related to SARS-CoV-2 infection has been described. We evaluated the impact of MIS-C on glycemic patterns in pediatric patients. A group of 30 children and adolescents affect...

Objectives: Despite the widespread diffusion of continuous glucose monitoring (CGM) systems, which includes both real-time CGM (rtCGM) and intermittently scanned CGM (isCGM), an effective application of CGM technology in clinical practice is still limited. The study aimed to investigate the relationship between isCGM-derived glycemic metrics and g...

Historically, the lung was not listed and recognized as a major target organ of diabetic injury. The first evidence of diabetic lung involvement was published fifty years ago, with a study conducted in a population of young adults affected by type 1 diabetes (T1D). In recent years, there has been mounting evidence showing that the lung is a target...

Type 1 diabetes (T1D) appears most frequently in childhood, with an alarming increasing incidence in the last decades. Although the genetic predisposition is a major risk factor, it cannot solely explain the complex etiology of T1D which is still not fully understood. In this paper, we reviewed the most recent findings on the role of early nutritio...

Background: Disordered eating behaviors (DEBs), including diagnosable eating disorders, are quite common and can interfere with optimal type 1 diabetes (T1DM) management. We explored DEBs prevalence in youth with T1DM, proposing news diagnostic subscales, to represent the clinical dimensions associated with feeding and eating disorders (ED); Metho...

Background: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifi...

Background: Chronic low-grade inflammation and activation of the immune system are hallmark pathogenic mechanisms involved in metabolic dysfunction and are related to obesity. In particular, the involvement of regulatory and pro-inflammatory lymphocyte subpopulations has been reported in adults. We evaluated the Th17/Treg lymphocyte balance in obes...

Glucose Transporter 1 Deficiency Syndrome (GLUT1-DS; OMIM #606777) is a rare disease caused by dominant mutations in SLC2A1 encoding GLUT1, which is a ubiquitous transporter of glucose across plasma membranes, particularly across the blood-brain barrier. Hypoglycorrhachia symptoms are the cornerstones of GLUT1-DS, but delayed growth has also been s...

Body shape index (ABSI) and triponderal mass index (TMI) have been recently associated with cardiovascular risk in adults. A cross-sectional study was conducted to evaluate the relationship between different anthropometric adiposity indexes and metabolic syndrome (MetS) in Caucasian obese children and adolescents. Consecutive obese children aged ≥7...

Rotavirus (RV) disease is a leading cause of mortality and morbidity, especially in children under 5 years of age. The introduction of the two oral rotavirus vaccines Rotarix® and RotaTeq® has shown significant reductions in RV‐related mortality, severe RV disease, and hospitalizations. However, some barriers, including a reduced efficacy in low‐in...

Type 1 diabetes (T1D) is one of the most common systemic diseases in childhood which predisposes the patient to serious short-term and long-term complications, affecting all body systems. Taste and olfactory impairments were first described a long time ago in adult patients affected by diabetes (both type 1 and type 2 diabetes). However, studies ev...

We performed a 3-year follow-up of the children enrolled into the Nutrintake Study to evaluate the changes of anthropometry and nutrient intake in aging infants and toddlers. Nutrient intake was assessed using a 7-day weighted food-diary. Of the 390 Nutrintake children, 164 (42%) participated in the present study. Their median (IQR) age was 54 (48;...

Obesity in childhood and adolescence is considered the most prevalent nutritional disorder, in which eating behaviours represent one important factors of influence. Many aspects influence eating behaviours, but taste is considered the main predictor. However, data concerning correlations of obesity, taste sensitivity and behavioural attitudes, such...

Influenza vaccine is considered the most effective way to prevent influenza. Nonetheless, every year vaccine coverage is lower than recommended in the pediatric population. Many factors are supposed to contribute to this phenomenon such as the uncertainty about the indication for vaccination, and the suboptimal vaccine-effectiveness in pediatric ag...

Objective The purpose of the paper is to examine the current state of the art about epidemiology, diagnosis, and treatment of this infection. Methods A review of the literature was performed through a PubMed search of original articles, case reports, and reviews using the key words “brain abscess,” “cerebral abscess,” “brain infection,” “intracran...

We performed a cross-sectional study to analyze the retinal vasculature in children, adolescent, and young adults with type 1 diabetes using optical coherence tomography angiography (OCTA). Patients underwent funduscopic examination for diabetic retinopathy (DR) screening during an annual visit for the screening of diabetes-related complications wh...

Aim: Metabolic changes during exercise may affect the accuracy of glucose sensors impacting on Type 1 diabetes (T1D) management. The present study aimed at assessing the performance of the Flash Glucose Monitoring system (isCGM) during exercise and in free-living condition in youth with T1D. Methods: Seventeen youth (53% male), aged 13.7 ± 3.8 year...

Extracellular ATP (eATP) activates T cells by engaging the P2X7R receptor. We identified two loss-of-function P2X7R mutations that are protective against type 1 diabetes (T1D) and thus hypothesized that eATP/P2X7R signaling may represent an early step in T1D onset. Specifically, we observed that in newly diagnosed T1D patients, P2X7R is upregulated...

Hematopoietic stem and progenitor cells (HSPCs) are multipotent stem cells that have been harnessed as a curative therapy for patients with hematological malignancies. Notably, the discovery that HSPCs are endowed with immunoregulatory properties suggests that HSPC-based therapeutic approaches may be used to treat autoimmune diseases. Indeed, infus...

Objectives: Burden of pneumococcal disease depends on the prevalence and invasive disease potential of serotypes. We aimed to estimate the invasive disease potential of serotypes in children under 5 years of age by combining data from different settings with routine immunisation with pneumococcal conjugate vaccines (PCV). Methods: We conducted a...

Background and aims Energy requirements are difficult to estimate in children with cerebral palsy (CP). Resting energy expenditure (REE), necessary for personalized nutritional intervention, is most commonly estimated using prediction formulae because the reference method, i.e. indirect calorimetry (IC), is not available in all Nutrition Units. The...

Significance: The field of food allergies is becoming a milestone in public health. Food allergies, in fact, can cause life-threatening reactions and profoundly influence the quality of life. Precise, fast and reliable diagnosis of food allergies, and in particular milk allergies is essential to avoid severe allergic reactions and also to prevent...