A5055532217- Metabolism and Genetic Disorders
- Connective tissue disorders research
- Bone health and treatments
- Diabetes Management and Research
- Vitamin D Research Studies
- Pancreatic function and diabetes
- Diabetes and associated disorders
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Diet and metabolism studies
- Bone fractures and treatments
- Bone health and osteoporosis research
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Sexual Differentiation and Disorders
- Bone Metabolism and Diseases
- Vitamin K Research Studies
- Folate and B Vitamins Research
- Lysosomal Storage Disorders Research
- Metabolism, Diabetes, and Cancer
- Oral and gingival health research
- Liver Disease Diagnosis and Treatment
- Digestive system and related health
- Growth Hormone and Insulin-like Growth Factors
- Dermatological and Skeletal Disorders
- Ovarian function and disorders
Ospedale Santa Chiara
2014-2025
Provincia Autonoma di Trento
2020-2024
Bambino Gesù Children's Hospital
2020-2023
Washington Center
2022
University of Verona
2010-2019
Azienda Ospedaliera Universitaria Integrata Verona
2016-2017
Fabry disease (FD) is a progressive multisystemic lysosomal storage disease. Early diagnosis by newborn screening (NBS) may allow for timely treatment, thus preventing future irreversible organ damage. We present the results of 5.5 years NBS FD α-galactosidase A activity and globotriaosylsphingosine (lyso-Gb3) assays in dried blood spot through multiplexed MS/MS assay. Furthermore, we report our experience with long-term follow-up positive subjects. screened more than 170,000 newborns 22...
Pompe disease (PD) is a progressive neuromuscular disorder caused by lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy available, but early diagnosis newborn screening (NBS) essential for treatment and better outcomes, especially with more severe forms. We present results from 7 years of NBS PD the management infantile-onset (IOPD) late-onset (LOPD) patients, during which we sought candidate predictive parameters phenotype severity at baseline follow-up. used...
Abstract Background Failure to thrive is a common reason for referral paediatric services. Malnutrition or inadequate caloric intake the most cause, while organic form unlikely in children who are asymptomatic and healthy on examination. By this study we evaluate application of cost-effective flow chart that helps clinician hospital setting discern accurately non-organic failure thrive. Methods Conduct prospective single-center up 2 years age with growth faltering. The pediatricians used...
Since the beginning of COVID-19 pandemic, an increase in new diagnoses and pediatric hospital admission for anorexia nervosa (AN) or atypical AN adolescents have been reported, suggesting adverse effect on youth mental health. We hypothesized possible differences prevalence hospitalization and/or disease severity, related to socio-economic status ethnicity.Retrospectively, patients were divided into two subgroups compared according date first admission: "pre SARS-COV2 era" group (n. 45, 8th...
Use of Continuous Glucose Monitoring (CGM) systems early in the course diabetes has potential to help glycemic management and improve quality life (QoL). No previous research examined these outcomes children-adolescents with type 1 (T1D) who use intermittently scanned CGM (isCGM) starting within first month after diagnosis.To evaluate impact isCGM T1D diagnosis, on metabolic control QoL, comparing a group started device one from onset another at least year later.Patients used diagnosis were...
Classic infantile Pompe disease is characterized by a severe phenotype with cardiomyopathy and hypotonia. Cardiomyopathy generally hypertrophic rapidly regresses after enzyme replacement therapy. In this report, for the first time, we describe patient that evolved into non-compaction myocardium treatment. The male newborn had suffered since birth heart failure. He was treated standard therapy (ERT) (alglucosidase alfa) several immunomodulation cycles due to development of anti-ERT...
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along of propionyl-CoA to succinyl-CoA. A dedicated test MCEE deficiency not included in newborn screening (NBS) panels but it can be incidentally identified when investigating methylmalonic acidemia propionic acidemia. Here, we report first time biochemical description a case detected by NBS. The NBS results showed increased levels...
To assess the incidence and temporal trend of type 1 diabetes (T1D) diabetic ketoacidosis (DKA) during period 2014-2023 in youths aged 0-14 years Trentino-Alto Adige region, Italy.
Background: Lysinuric protein intolerance (LPI; MIM# 222700) is a rare metabolic disorder caused by defective cationic amino acids (CAA) membrane transport leading to decreased circulating plasma CAA levels and resulting in dysfunction of the urea cycle. Short stature commonly observed children with LPI has been associated malnutrition. A correlation between growth hormone deficiency (GHD) also postulated because known interaction AA arginine, ornithine, lysine (GH) secretion. Our report...
Severe bradycardia is an indication supporting hospitalization in adolescents with eating disorders. Some anorexia nervosa (AN) and significant weight loss present a normal pulse rate at admission, whereas others have severe bradycardia, suggesting that total not the most important determinant of bradycardia. The aims this study were to define prevalence as cause for hospital admission AN, evaluate correlations between known determinants average time required recover from after...