Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.

Background: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).

Methods: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.

Results: Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes.

The Development of a Food Frequency Questionnaire for the Assessment of Ultra-Processed Food Consumption in the Italian Adult Population: Protocol for a Validity and Reproducibility Study.

Background: Over the last decade, while studies on the detrimental effects of ultra-processed food (UPF) consumption have increased, methodological limitations on the quality of available evidence have emerged. Starting from a critical reassessment of the NOVA classification, this project will aim to develop and validate a food frequency questionnaire (FFQ), which is based on the processing of consumed foods and specifically designed to estimate the UPF consumption and total dietary intake of macro- and micronutrients in the Italian adult population.

Methods: This study will take place in selected workplaces and include healthy males and females aged ≥18 years, residing in Italy and with Italian citizenship.

Tailoring the Nutritional Composition of Italian Foods to the US Nutrition5k Dataset for Food Image Recognition: Challenges and a Comparative Analysis.

Background: Training of machine learning algorithms on dish images collected in other countries requires possible sources of systematic discrepancies, including country-specific food composition databases (FCDBs), to be tackled. The US Nutrition5k project provides for ~5000 dish images and related dish- and ingredient-level information on mass, energy, and macronutrients from the US FCDB. The aim of this study is to (1) identify challenges/solutions in linking the nutritional composition of Italian foods with food images from Nutrition5k and (2) assess potential differences in nutrient content estimated across the Italian and US FCDBs and their determinants.

Therapy-Related Myeloid Neoplasm: Biology and Mechanistic Aspects of Malignant Progression.

Therapy-related myeloid neoplasms (t-MN) arise after a documented history of chemo/radiotherapy as treatment for an unrelated condition and account for 10-20% of myelodysplastic syndromes and acute myeloid leukemia. T-MN are characterized by a specific genetic signature, aggressive features and dismal prognosis. The nomenclature and the subsets of these conditions have changed frequently over time, and despite the fact that, in the last classification, they lost their autonomous entity status and became disease qualifiers, the recognition of this feature remains of major importance.