Ospedale Regina Margherita

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzymopathy worldwide. Current neonatal screening, based on enzymatic assays, often fails to identify heterozygous females due to X-chromosome inactivation. This study aimed to characterize by genotype, enzymatic activity and haematological parameters infants carrying pathogenic G6PD variants and to explore genotype-phenotype correlations. Within the NeoGen project, 4067 newborns underwent whole-exome sequencing (WES). Infants with pathogenic or likely pathogenic variants of the G6PD gene were tested for quantitative enzyme activity and haematological indices. Pathogenic or likely pathogenic G6PD variants were found in 123 infants (3.0%); 107 completed full laboratory assessment. Enzymatic deficiency was observed in hemizygous males, while over 60% of heterozygous females showed normal enzyme levels and would have been missed by enzymatic screening. Males exhibited lower G6PD activity, higher reticulocyte counts and lower haemoglobin than females. Enzymatic and haematological variability was greater among females, underscoring the complexity of genotype-phenotype relationships. Enzymatic screening alone misses a significant proportion of affected females. Incorporating molecular testing into neonatal screening improves diagnostic accuracy, supports preventive strategies and promotes equity in early-life healthcare. These findings support the feasibility of combining molecular and enzymatic screening within large-scale genomic screening programmes.

This report presents the case of a seven-year-old child with a suspected viper bite on the right hand, initially presenting with local oedema and a puncture lesion. The subsequent onset of vomiting, altered consciousness and lymphangitic streaks extending to the axilla confirmed systemic envenomation. Following transfer to a tertiary care centre and timely administration of specific antivenom, the patient achieved complete symptomatic resolution. This case underscores the necessity of early differential diagnosis and treatment with immunotherapy, the gold standard for preventing severe neurological and haematological complications.

Evidence-based practice (EBP) is widely endorsed as a cornerstone for high-quality, patient-centered care. However, its integration into daily clinical routines remains inconsistent, particularly in settings where cultural, educational, and organizational challenges persist. Reliable, contextually adapted tools are essential to measure EBP implementation and guide improvement efforts. This study aimed to validate the Italian versions of the EBP Implementation Scale and its short-form (3-item) version. A cross-sectional survey design was adopted. Both versions of the EBP Implementation Scale were translated and culturally adapted in accordance with internationally recognized guidelines. Data were gathered from a national sample of 405 nurses through a combination of convenience and snowball sampling. Psychometric assessment encompassed confirmatory and Bayesian factor analyses, evaluation of internal consistency and test-retest reliability, and measurement invariance testing. All analyses were performed in R Studio. Confirmatory factor analyses confirmed that both versions (long and short) of the scale measure a single underlying construct. The instruments demonstrated high reliability (ω = 0.96 and 0.87 respectively). Measurement invariance across educational groups was partially established, as the partial scalar invariance model demonstrated acceptable fit (CFI = 0.991, RMSEA = 0.045), suggesting consistent interpretation of the scale across different levels of EBP training. Latent profile analysis revealed distinct subgroups of EBP implementers, with notable differences in latent means (p < 0.001) associated with previous education in evidence-based practice. The Italian EBP Implementation Scales are valid and reliable tools for assessing EBP implementation behaviors. They can support education planning, monitor practice changes over time, and inform interventions aimed at enhancing evidence-based care.

Cholangiopathies encompass a wide range of chronic liver diseases that target biliary epithelial cells, leading to significant morbidity and mortality due to their progressive nature, limited treatment options, and complex clinical management. Currently, clinically validated biomarkers capable of distinguishing obstructive cholangiopathies, such as biliary atresia (BA), from other cholangiopathies are lacking, hindering timely intervention. RNA-binding proteins (RBPs) have been increasingly linked to human diseases but their roles in cholangiopathies remain underexplored. We assessed the expression of the RBP epithelial splicing regulatory protein 1 (ESRP1) in murine models of cholangiopathies and in the human system. Our findings demonstrate that ESRP1 is highly and specifically expressed in cholestatic liver injury models, including bile duct-ligated, diethoxycarboncyl-1,4-dihydrocollidine-treated, and Mdr2-/- mice when compared with other liver injury models. Importantly, ESRP1 is markedly elevated in the livers of patients with BA and cystic fibrosis-related liver disease, localizing to cholangiocytes and peri-biliary hepatic cells, but is minimal in primary sclerosing cholangitis and primary biliary cholangitis. Moreover, patient-derived BA organoids and biliatresone-treated healthy organoids also display ESRP1 expression. Bioinformatics analysis further implicates ESRP1 in key cholangiopathy-associated pathways, warranting deeper mechanistic investigation. Thus, ESRP1 holds potential as a molecular marker for obstructive cholangiopathies, warranting further mechanistic studies.

Despite national and international guidelines on Helicobacter pylori management, limited evidence exists on how these recommendations are applied in routine clinical practice. This nationwide survey, conducted by the Italian Association of Hospital Gastroenterologists and Endoscopists and the Italian Federation of General Practitioners (FIMMG), aimed to identify the empirical first- and second-line treatments most commonly recommended in Italy. Members of societies were invited via email to anonymously complete an original 20-item questionnaire. Ten therapeutic regimens were proposed, with treatment durations classified as 7, 10, or 14 days. Respondents reported the type of proton-pump inhibitor (PPI) used, total daily dose (mg/day), and whether probiotics and/or lactoferrin were recommended. PPI doses were standardized according to acid inhibition potency and categorized as low, standard, or high. Among the 1262 respondents [358 gastroenterologists (GEs) and 904 general practitioners (GPs)], the first-line regimen most frequently prescribed was the triple therapy with PPI, clarithromycin and amoxicillin (35.2%; 12% of GEs vs. 44.4% of GPs; P < 0.0001), followed by bismuth quadruple therapy - three-in-one capsule (BQT-TSC: 31.2%; 51.4 vs. 23.3%, P < 0.001), and sequential therapy (21.7%; 26.8 vs. 19.7%, P < 0.001). For second-line, BQT-TSC was the most prescribed regimen (53.1%; GEs versus GSs: not statistically significant). 10-day courses and low-dose PPIs predominated, and approximately 1/3 of respondents recommended probiotics. Empirical regimen selection, PPI dosing, and probiotic use frequently diverged from guideline recommendations. These findings highlight the need to align clinical practice with evidence-based standards to improve eradication rates, optimize cost-effectiveness, and preserve healthcare resources.

Current guidelines for managing infections in pediatric patients with cancer do not recommend routine antibiotic prophylaxis (AP). However, several aspects of AP, including the role of diagnosis, the impact of neutropenia duration, screening for resistant bacterial colonization, and antibiotic stewardship, remain a matter of debate. To address these issues, a panel of experts from the Italian Association of Pediatric Hematology and Oncology (AIEOP) and the Italian Society of Pediatric Infectious Diseases (SITIP) conducted a Delphi consensus. A comprehensive literature review and a national survey of pediatric oncology centers identified clinically relevant topics that are not fully covered by current guidelines. Based on this, the expert panel developed and voted on 14 statements covering eight key areas: the role of diagnosis, duration of neutropenia, screening for colonization with antibiotic resistant bacteria, use of validated risk scores, implementation of antimicrobial stewardship programs, periodic monitoring of local epidemiology, choice of antibiotic for prophylaxis, and the risk of resistance following prophylaxis. The panel reached a consensus against prophylaxis in patients receiving monoclonal antibody therapy and advised against using the duration of neutropenia alone as a criterion to initiate prophylaxis, recommending it only for severe neutropenia (< 500/mm³). They also emphasized the importance of screening for multidrug resistant bacteria and implementing antimicrobial stewardship supported by specialist consultation. These recommendations provide guidance for clinicians on the selective use of AP, supporting informed decision making while ensuring appropriate treatment and reducing the emergence of multidrug resistant bacterial infections.

Background22q11 deletion syndrome (22q11DS) is a genetic disorder caused by a deletion at chromosome 22q11.2. Chronic arthritis may be occasionally observed in these, if this manifestion represents a concomitant association of two diseases or a rare complication of Di George syndrome is still a debate. This study aims to describe a retrospective, multicenter analysis of patients with 22q11DS, who developed chronic inflammatory arthritis, focusing on clinical presentation, diagnosis, and management.MethodsAn e-mail survey was distributed to pediatric centers, identifying patients diagnoses with both 22q11DS and chronic arthritis from 1992 to 2024. The clinical course was documented through medical record review.ResultsA total of 30 patients were identified with a female predominance (20 cases). The median age at 22q11DS diagnosis was 12 months, and 3 years at arthritis onset. Polyarticular involvement was observed in 50.0% of patients, and the median number of affected joints at onset among all patients was 4.5 (range 1–25). Only one child developed uveitis. Erythrocyte sedimentation rate was elevated in 72.0% of tested patients, and C-reactive protein in 83.3%. Antinuclear antibodies was negative in 23.3% of patients, while rheumatoid factor (RF) and cyclic citrullinated peptide (CCP) antibodies were consistently negative. Treatment included systemic glucocorticoids (53.3%), methotrexate (66.6%), and biologic agents (56.7%). Infections were generally mild, primarily affecting the respiratory tract. At last follow-up, arthritis persisted active in 53.3% of cases, with 78.6% of those in remission still on medication.ConclusionsArthritis in 22q11DS appears to be a distinct clinical entity characterized by an aggressive phenotype and a severe, prolonged course, typically lacking CCP and RF antibodies and rarely associated with uveitis. These features suggest a distinct clinical entity, diverging from classical juvenile idiopathic arthritis.