Mirko Gambino

Assessment of pulmonary function in preterm infants without bronchopulmonary dysplasia. A pilot observational study

Mirko Gambino, Simona Ferraro, Donato Martella, Michele Ghezzi et autres

INTRODUCTION: Preterm birth is a major cause of neonatal respiratory morbidity and increases the risk of bronchopulmonary dysplasia (BPD). Tidal-breathing flow-volume loops (TBFVL) enable non-invasive early detection of respiratory abnormalities. While there is extensive data on TBFVL in preterm infants with BPD, …

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When curiosity turns toxic: accidental hydrocarbon aspiration in a pediatric patient - a case report with literature review

Alice Bianchi, Michele Ghezzi, Mirko Gambino, Elisabetta Bungaro et autres

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Assessment of Pulmonary Function in Preterm Infants without Bronchopulmonary Dysplasia

Mirko Gambino, Simona Ferraro, Donato Martella, Michele Ghezzi et autres

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Endocrine system disturbances in children with inherited metabolic diseases: a narrative review

Veronica Maria Tagi, Laura M. Fiori, C Montanari, Davide Tonduti et autres

Inborn metabolic diseases (IMDs) represent a diverse and complex group of rare disorders, typically resulting from variants in genes that encode specific enzymes or cofactors, leading to reduced or absent enzymatic activity. These conditions commonly disrupt one or more metabolic pathways, often …

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Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency

Laura M. Fiori, Veronica Maria Tagi, C Montanari, Mirko Gambino et autres

Olipudase alfa is indicated for the non-central nervous system manifestations of Acid sphingomyelinase deficiency (ASMD). Anaphylaxis is a very rare and life-threatening adverse reaction described for this drug. Here, we report the case of a 2-year-old boy affected by chronic neurovisceral ASMD …

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Glycomacropeptide-Based Protein Substitutes for Children with Phenylketonuria in Italy: A Nutritional Comparison

Martina Tosi, Laura Fiori, Veronica Maria Tagi, Mirko Gambino et autres

Advancements in food science technology have allowed the development of new products for the therapeutic management of inherited metabolic diseases such as phenylketonuria (PKU). Glycomacropeptide (GMP), a peptide derived from casein, is naturally low in phenylalanine (Phe) and, thus, adequate for protein …

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Recurrent upper respiratory tract infections in early childhood: a newly defined clinical condition

Antonio Corsello, Gregorio Paolo Milani, Marina Picca, Roberto Buzzetti et autres

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 …

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Are Phe-Free Protein Substitutes Available in Italy for Infants with PKU All the Same?

Elvira Verduci, Martina Tosi, C Montanari, Mirko Gambino et autres

Breastfeeding or standard infant formulas, alongside phenylalanine (Phe)-free protein substitutes, constitute the dietary management for infants with PKU to guarantee protein requirements are met in compliance with metabolic tolerance. This work aims to analyse the nutritional composition of Phe-free infant protein substitutes, …

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The Iodine Rush: Over- or Under-Iodination Risk in the Prophylactic Use of Iodine for Thyroid Blocking in the Event of a Nuclear Disaster

Valeria Calcaterra, Chiara Mameli, Virginia Rossi, Giulia Massini et autres

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 …

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Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature

Chiara Mameli, Arianna Sangiorgio, Valeria Colombo, Mirko Gambino et autres

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 …

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Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis

Simona Bertoli, Silvia Masnada, Ramona Silvana De Amicis, Arianna Sangiorgio et autres

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