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.

Metabolic Syndrome and Heart Transplantation: An Underestimated Risk Factor?

Metabolic Syndrome (MetS), a multifactorial condition that increases the risk of cardio-vascular events, is frequent in Heart-transplant (HTx) candidates and worsens with immunosuppressive therapy. The aim of the study was to analyze the impact of MetS on long-term outcome of HTx patients. Since 2007, 349 HTx patients were enrolled.

Effects of 24-week Polarized Training vs. Threshold Training in Obese Male Adults.

The combination of high volume of moderate-intensity continuous training with a low volume of high-intensity interval training improved body composition and physical capacities in individuals with obesity. However, polarized training (POL) has never been used in adult men with obesity. Thus, the purpose of this study was to investigate changes in body composition and physical capacities induced by a 24-week POL or threshold (THR) program in obese male adults.

Improvement of adiponectin in relation to physical performance and body composition in young obese males subjected to twenty-four weeks of training programs.

Obesity and related metabolic diseases represent a worldwide health problem. The main factor predisposing to obesity is an unhealthy lifestyle including the lack of physical activity. A pivotal role in the etio-pathogenesis of obesity is carried out by adipose tissue, an endocrine organ secreting several adipokines involved in numerous metabolic and inflammatory processes.

CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis.

Dominant negative mutations in CARD11 have been reported in patients with immune dysregulation, severe atopic features, and variable T cell alterations. Data on Natural killer (NK) cells from affected patients are lacking. We report on a 12-year-old boy with severe atopic dermatitis, food induced anaphylaxis and hypogammaglobulinemia harbouring a novel de novo heterozygous variant c.

Body Composition in Patients with Follicular Lymphoma: Asso-Ciations between Changes in Radiomic Parameters in Patients Treated with R-CHOP-like and R-B Regimens: LyRa 01F.

In patients with follicular lymphoma (FL), therapeutic advances have led to improved survival, and within this framework, it is important to identify treatment strategies offering a better quality of life. Using (18)F-fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT), in patients treated with R-CHOP-like or R-Bendamustine regimens, we assessed changes in the bone mineral density (BMD), musculoskeletal index (SMI), visceral adipose tissue (VAT), and subcutaneous adipose tissue (SAT) at disease onset and at the end of therapy. We evaluated whether the high-steroid regimen could lead to more significant radiological changes than those induced by the steroid-free regimen and whether a low BMD at disease onset is an unfavorable prognostic index.

"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

Background: Inherited thrombocytopenias (ITs) are rare congenital bleeding disorders characterized by different clinical expression and variable prognosis. ITs are poorly known by clinicians and often misdiagnosed with most common forms of thrombocytopenia.

Material And Methods: "CHildren with Inherited Platelet disorders Surveillance" study (CHIPS) is a retrospective - prospective observational cohort study conducted between January 2003 and January 2022 in 17 centers affiliated to the Italian Association of Pediatric Hematology and Oncology (AIEOP).

Are Dietary Patterns Related to Cognitive Performance in 7-Year-Old Children? Evidence from a Birth Cohort in Friuli Venezia Giulia, Italy.

Research from different sources supports a link between nutrition and neurodevelopment, but evidence is still sparse regarding the relationship between dietary patterns (DPs) and cognitive performance in school-aged children. Within the Northern Adriatic Cohort II, Friuli Venezia Giulia, Italy, 379 7-year-old children were cross-sectionally evaluated. Dietary patterns were identified through a principal component factor analysis based on 37 nutrients from children's 3-day dietary records.

Gliadin-reactive vitamin D-sensitive proinflammatory ILCPs are enriched in celiac patients.

Celiac disease (CD) is a multisystem disease in which different organs may be affected. We investigate whether circulating innate lymphoid cells (ILCs) contribute to the CD peripheral inflammatory status. We find that the CD cytokine profile is characterized by high concentrations of IL-12p40, IL-18, and IFN-γ, paralleled by an expansion of ILC precursors (ILCPs).

Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency.

Common variable immunodeficiency (CVID) is the most frequent primary antibody deficiency whereby follicular helper T (Tfh) cells fail to establish productive responses with B cells in germinal centers. Here, we analyzed the frequency, phenotype, transcriptome, and function of circulating Tfh (cTfh) cells in CVID patients displaying autoimmunity as an additional phenotype. A group of patients showed a high frequency of cTfh1 cells and a prominent expression of PD-1 and ICOS as well as a cTfh mRNA signature consistent with highly activated, but exhausted, senescent, and apoptotic cells.

Adherence to Dietary Recommendations of 7-Year-Old Children from a Birth Cohort in Friuli Venezia Giulia, Italy.

Few Italian and European studies have assessed adherence to dietary recommendations in primary school children using dietary records. No Italian studies have provided an index-based nutritional adequacy assessment. We provided a comprehensive overview of dietary intake in 381 7-year-old children from NAC-II cohort study, Friuli Venezia Giulia (Italy).

Risky behaviors, substance use, and other lifestyle correlates of energy drink consumption in children and adolescents: a systematic review.

Unlabelled: Increasing concerns have been raised on the health-related risks connected with energy drink (ED) consumption in children and adolescents, with high acute or chronic consumers exceeding 10% in either age group in Europe in 2011. Preliminary evidence has suggested a common pattern of ED and substance use, especially alcohol. Additional evidence has been accumulating very fast; in addition, other lifestyle and risky behaviors may contribute to shed light on the complex interplay of factors involved in ED consumption.

Psychological and socio-educational correlates of energy drink consumption in children and adolescents: a systematic review.

Energy drinks (EDs) are non-alcoholic beverages providing an extra boost in physical/cognitive performance and mood. Besides the physiological effects related to the high-caffeine content of EDs, long-term emotional, social, and behavioral effects have been recently receiving attention. However, a few systematic reviews have focused on the critical yet understudied periods of childhood and adolescence.

Association of Immune Thrombocytopenia and Celiac Disease in Children: A Retrospective Case Control Study.

Objective: The association between celiac disease (CD) and immune thrombocytopenia (ITP) is still uncertain. The aim of this study was to characterize the coexistence of these two diseases in Italian children.

Materials And Methods: This is a retrospective multicenter study investigating the occurrence of CD in 28 children with ITP diagnosed from January 1, 2000, to December 31, 2019.

Association of Immune Thrombocytopenia and Inflammatory Bowel Disease in Children.

Background: The association between inflammatory bowel disease (IBD) and immune thrombocytopenia (ITP) is still uncertain. In this multicenter retrospective study, the coexistence of both diseases was investigated in children diagnosed from 1 January 2000 to 31 December 2019.

Methods: Clinical characteristics of both IBD and ITP, onset of disorders, and patient's response to treatment were collected through a structured form sent to 55 Italian pediatric referring centers for hematological disorders.