Since my education and training at the Medical School of the University of Milan, Italy, I focused my efforts in the area of pediatric diabetology and endocrinology. Until 2008 my training has been based in clinical settings, in particular in the treatment of children and adolescents with type 1 diabetes mellitus and endocrine diseases.
EDUCATION
2001: B.S Liceo Scientifico V.Veneto, Milan, Italy
2007: MD - Medicine University of Milan, Italy M.D.
2013: Residency in Pediatrics, University of Milan, Italy
204-2017/2018- ongoing Research Fellow in Pediatrics University of Milan/Luigi Sacco Hospital
Clinical and biochemical evaluation of children with short stature in the primary care setting: a systematic review Chiara Mameli, Rino Agostiniani, Giuseppe Banderali, Elena Bozzola, Vita Antonella Di Stefano, et al. Italian Journal of Pediatrics, 2026 Short stature is a frequent reason for pediatric referral, yet clear diagnostic criteria remain elusive. Variability in clinical definitions, reference growth charts, and laboratory screening tests complicates the evaluation of affected children. This systematic review aimed to analyze the diagnostic approaches used in clinical and biochemical assessments of short stature in children in the primary care setting. This systematic review was conducted in accordance with PRISMA 2020 guidelines and registered in PROSPERO (CRD420251002215). Two independent literature searches were performed to address two domains: clinical and biochemical assessment. Studies were selected based on predefined inclusion and exclusion criteria, and risk of bias was assessed using the JBI critical appraisal tools. All procedures were conducted by independent reviewers, and discrepancies were resolved by consensus or through a third reviewer. A total of 424 studies were included, 35 in the clinical and 7 in the biochemical domain. Definitions of short stature considered in the studies varied considerably: 28 studies used a threshold of < 2 standard deviation score, while 19 applied percentile-based cut-offs (mostly the 3rd percentile); 8 studies considered both definitions, 3 studies do not report any definition. Growth velocity and target height were rarely used, despite their diagnostic value. Local growth charts were employed when available; otherwise, WHO and CDC references were most used. Laboratory assessments also varied greatly, with complete blood count and urine/stool analyses commonly performed, while thyroid function and celiac disease screening were inconsistently applied. There is substantial heterogeneity in the clinical and biochemical evaluation of children with short stature across studies. This reflects the absence of universally accepted diagnostic criteria and standardized screening protocols. These findings emphasize the need for internationally accepted, evidence-based guidelines to improve diagnostic accuracy and clinical management of children with short stature.
Secretory Acid Sphingomyelinase in Children and Adolescents With Type 1 Diabetes Chiara Mameli, Alice Bolchini, Cristina Ferrigno, Paulina Roux Biejat, Alessandro Arcari, et al. Journal of Diabetes Research, 2026 Introduction The activity of acid sphingomyelinase (ASMase), a key enzyme in sphingolipid metabolism, has been found to be increased in a variety of human diseases. Studies conducted on animal and cellular models showed that sphingolipids and ASMase play a central role in the pathogenesis of type 1 diabetes (T1D) and T1D‐related vascular damage. Currently, no studies have investigated the role of ASMase activity in pediatric patients with T1D. Therefore, we conducted a cross‐sectional study to evaluate the activity of the secretory form of ASMase (S‐ASMase) in the serum of patients with T1D aged 2–16 years in comparison with a control group (healthy subjects matched for age, gender, and pubertal stage). Materials and Methods We recruited children and adolescents affected by T1D (including patients with new‐onset and established T1D) aged 2–16 years and healthy normal‐weight subjects with normal timing of puberty (matched for age, gender, and pubertal stage), who were consecutively admitted—as outpatients—to our institution for screening purposes. Serum lipid profile, glycated hemoglobin (HbA1c), and urine albumin–creatinine ratio (uACR) were assessed in all T1D patients. S‐ASMase activity was measured in all study participants through a colorimetric assay. Results In total, 68 T1D patients and 51 healthy controls were recruited in this study. None of the T1D patients had T1D‐related complications. No difference in S‐ASMase activity was observed between subjects with T1D and healthy controls. However, when T1D patients were stratified according to the duration of diabetes, we found a significantly higher activity of S‐ASMase in patients with new‐onset T1D (recruited within 1 week after the disease diagnosis) as compared to that observed in patients with established T1D. In all patients with T1D, S‐ASMase activity correlated positively with HbA1c and triglyceride levels, while it correlated negatively with total cholesterol (TC) and high‐density lipoprotein cholesterol (HDL‐C) levels. However, there were no significant differences in S‐ASMase activity between T1D patients with new‐onset disease who presented with diabetic ketoacidosis (DKA; n = 12) and T1D patients with new‐onset disease who did not present with DKA ( n = 13). Conclusion Our study evaluated, for the first time, the in vivo activity of S‐ASMase in a pediatric cohort of patients with T1D. In pediatric patients with new‐onset T1D, we found a significantly higher S‐ASMase activity as compared to that observed in patients with established T1D. In all T1D patients, the positive correlation between S‐ASMase activity, HbA1c, and triglyceride levels, as well as the negative correlation between S‐ASMase activity and HDL‐C levels, suggests a potential role played by sphingolipids in T1D pathophysiology. Further mechanistic studies are needed to better elucidate the role of S‐ASMase in patients with T1D at different stages of the disease.
Unmet needs of Italian centers for pediatric diabetes care: analysis of a survey among pediatric diabetologists facing the national screening program for Type 1 Diabetes Marco Marigliano, Roberto Franceschi, Enza Mozzillo, Valentina Tiberi, Monica Marino, et al. Italian Journal of Pediatrics, 2025 Backgrounds The incidence of Type 1 Diabetes (T1D) in children and adolescents is increasing by 3–4% per year. Children and adolescents with T1D (CwD) should receive person-centered, specialized treatment from a multidisciplinary team to ensure appropriate care. Italy is the first to implement a countrywide T1D screening program, which will raise the need for funding for specialized pediatric care. The study aims to update the organization of the Italian Centers for pediatric diabetes care. Methods In 2022, members of the 59 Italian Centers following CwD were invited to complete an email survey regarding the Centers’ organization, characteristics, and activities. The questionnaire included information on responders, department organization, team composition, activities, and the organizational structures: department, ambulatory care services (AC), simple operational units (UOS), simple departmental operational units (UOSd), and complex operational units (UOC). Results The data collected referred to the year 2022. According to the results, 21,318 people with diabetes were treated. Of these, 19,643 subjects (92.1%) have T1D (16,672 were CwD), 387 (1,8%) have Type 2 Diabetes, and 1,288 (6,1%) have other forms of diabetes. Compared to the 2012 survey, a 13% decrease (from 68 to 59 Centers) in the number of pediatric Centers caring for CwD was observed with a parallel increase of total (+ 6.6%) and average (+ 22%) number of CwD per Center. The estimated prevalence of T1D has increased (1.4 vs. 1.7 per 1,000 CwD—2012 vs. 2022). A reduction in numbers for AC (-22%) and UOS (-35%) was observed, whereas UOSd/UOC increased by 50%. Almost 35% of the dietitians and 40% of the psychologists were not permanent members of the multidisciplinary diabetes team. Conclusions The observed decrease in the overall number of pediatric diabetes Centers, the reduction in specialized and dedicated HCPs, and the concurrent increase in the number of treated CwD in the last ten years indicate an alarming situation for pediatric diabetes treatment in Italy. Furthermore, the projected rise in CwD due to the National T1D screening program emphasizes the need for increased resources for specialized pediatric care of CwD at all stages.
