Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 6 of 6 for “"Settore MEDS-20/A - Pediatria generale e specialistica"”.
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Advanced Machine Learning Techniques for Biomarker Discovery and Disease Diagnosis Using Metabolomic Data
Omics technologies, and metabolomics in particular, are reshaping the biomedical landscape by providing comprehensive molecular snapshots of physiological and pathological states. These high-throughput approaches enable the identification of disease-related biomarkers and support the development of …
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IMPACT OF KETOGENIC DIET TREATMENT IN GLUT1 DEFICIENCY SYNDROME: DISCOVERY OF MOLECULAR MECHANISMS RESPONSIBLE FOR PHENOTYPE CHANGES IN BOTH PEDIATRIC AND ADULT PATIENTS
La sindrome da deficit di GLUT1 (GLUT1-DS) è una rara condizione neuro-metabolica, causata da mutazioni nel gene SLC2A1, che codifica per il trasportatore del glucosio, GLUT1. La carenza di GLUT1 riduce significativamente l’apporto di glucosio al cervello, compromettendone il funzionamento e …
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DECIPHERING THE ORAL MICROBIOTA IN FOOD ALLERGY: INSIGHTS INTO THE CANDIDATE PHYLA RADIATION AND NOVEL METHODOLOGICAL APPROACHES
Food allergies are abnormal immune reactions to otherwise harmless food antigens, influenced by multiple factors, including the oral microbiota. During my PhD, I contributed to studies investigating the oral microbiota in food-allergic children, with a particular focus on the Candidate Phyla …
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METABOLICALLY HEALTHY AND UNHEALTHY OBESITY IN CHILDREN AND ADOLESCENTS: DIETARY IMPLICATIONS AND NEW OPPORTUNITIES FOR GUT MICROBIOTA MODULATION
This doctoral dissertation aimed to evaluate strategies for modulating gut microbiota composition in children and adolescents with metabolically healthy and unhealthy obesity. Three main projects were carried out: (1) a systematic review and metanalysis on the role of dietary intervention in …
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BRIDGING CLINICAL, METABOLIC, AND NUTRITIONAL FINDINGS IN MOTHER¿INFANT DYADS WITH MATERNAL VITAMIN B12 DEFICIENCY IDENTIFIED THROUGH NEWBORN SCREENING
… Buzzi Children’s Hospital in Milan (November 2021–August 2025), including 127 cases of maternal vitamin B12 deficiency identified among 249,715 newborns screened by ENS. Newborns underwent nutritional and metabolic blood tests, as well as stool collection for microbiota analysis; follow-up …
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MODULATION OF TRPML1/TFEB PATHWAY FOR THE TREATMENT OF WILSON DISEASE
Wilson disease (WD) is an autosomal recessive disorder characterized by toxic copper accumulation in several tissues, resulting in hepatic and neurological impairment. WD is caused by mutations in the P-type ATPase copper transporting B (ATP7B) gene, responsible for copper supply to cuproproteins …