A5085314235- Diabetes Management and Research
- Diabetes and associated disorders
- Dialysis and Renal Disease Management
- Pancreatic function and diabetes
- Thyroid Disorders and Treatments
- Myasthenia Gravis and Thymoma
- Central Venous Catheters and Hemodialysis
- Pituitary Gland Disorders and Treatments
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Folate and B Vitamins Research
- Platelet Disorders and Treatments
- Nutritional Studies and Diet
- Erythropoietin and Anemia Treatment
- Immunodeficiency and Autoimmune Disorders
- Tumors and Oncological Cases
- Muscle and Compartmental Disorders
- Congenital Anomalies and Fetal Surgery
- Genetics and Neurodevelopmental Disorders
- Sulfur Compounds in Biology
- Neuroscience, Education and Cognitive Function
- Cancer and Skin Lesions
- Autoimmune Neurological Disorders and Treatments
- Congenital Diaphragmatic Hernia Studies
- Thyroid Cancer Diagnosis and Treatment
- Blood disorders and treatments
Istituto Giannina Gaslini
2011-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2012-2021
University of Genoa
2010-2012
Background Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Mellitus, Optic Atrophy, and Deafness identified the acronym "DIDMOAD". The WS gene, WFS1, encodes a transmembrane protein called Wolframin, which recent evidence suggests may serve as novel endoplasmic reticulum calcium channel in pancreatic β-cells neurons. rare disease, with estimated prevalence of 1/550.000 children, carrier frequency 1/354. aim our study was to...
The management of refractory autoimmune cytopenias in childhood is challenging due to the lack established evidence on escalating treatments. long-term efficacy immunosuppressive drugs was evaluated children with referred Haematology Unit Gaslini Children's Hospital between 2001 and 2014. Patients were grouped into three categories: lymphoproliferative syndrome (ALPS), ALPS-related (at least one absolute/primary additional criterion for ALPS) primary cytopenia (PAC, no other immunological...
Congenital Pulmonary Airway Malformations (CPAM) are rare lung development anomalies characterised by varying-sized cysts. The majority of affected newborns asymptomatic at birth, while a small percentage may experience respiratory difficulties. By analysing clinical case, the article describes comprehensive management Type I CPAM with macrocysts and emphasises importance multidisciplinary approach in treating this condition. intervention involved prenatal drainage microcyst EXIT (Ex Utero...
Background: Primary lung tumors in pediatric patients are rare, predominantly malignant, and present diagnostic challenges due to symptom overlap with more common conditions such as inflammatory processes or asthma. Evidence-based approaches for managing these rare neoplasms childhood scarce. This retrospective study reports the experience of a referral center diagnosing treating tumors. Methods: Pediatric primary treated at Giannina Gaslini Children’s Hospital between January 2016 2024 were...
Children with congenital hypothyroidism (CH) are at risk for suboptimal neurodevelopment.To evaluate neurocognitive function and white matter microstructure in children permanent or transient CH to correlate these findings disease severity.A retrospective prospective observational study was conducted 39 CH, healthy children. Cognitive assessed by Wechsler Intelligence Scale, Fourth Edition, other tests; the investigated 3 Tesla magnetic resonance imaging.Children have lower cognitive scores...
ABSTRACT Interstitial deletions of the long arm chromosome 1 are rare and they classified as proximal or intermediate. The intermediate interstitial span 1q24–1q32. We describe a 6‐year‐old girl with multiple pituitary hormone deficiency, severe cognitive impairment, bilateral cleft lip palate, midline facial capillary malformation, erythema hands feet dysplastic cranial vessels, low anti‐thrombin III activity, hemifacial overgrowth due to progressive infiltrating lipomatosis bone...
Background. We compared the proteome profile of peritoneal effluents obtained with icodextrin (Ico) or glucose (Glu) in paediatric patients and defined oxido-redox status proteins.