Santobono Children's Hospital

Background/Objectives: Nurse retention remains a major global challenge for healthcare systems, intensified by workforce aging, rising care complexity, and the long-term impact of the COVID-19 pandemic. Despite extensive research, the evidence on nurse retention remains fragmented and frequently focuses on isolated determinants. This review aimed to synthesize the multifactorial determinants of nurse retention by integrating organizational, relational, and individual perspectives. Methods: An integrative review was conducted following Whittemore and Knafl's approach and reported according to PRISMA 2020 guidelines where applicable. A systematic search of six databases identified studies published between 2016 and 2026 addressing nurse retention in hospital settings. Included studies underwent methodological quality appraisal using validated tools, and findings were synthesized narratively. Results: Twenty-five articles were included. The analysis revealed differences in perspective between nurse managers and nurses regarding the factors that influence retention. Transformational and participative leadership among nurse managers enhanced staff retention through supportive organizational climates and higher professional commitment. For staff nurses, positive work environments, collegial support, and psychological resources such as self-efficacy and resilience were key predictors of intention to stay. These findings can be interpreted through Herzberg's Two-Factor Theory, Self-Determination Theory and Theory of Planned Behavior, which collectively highlight how recognition, autonomy, and competence satisfaction drive nurses' intention to remain in their roles. Conclusions: Nurse retention reflects dynamic, multilevel processes rather than the influence of single determinants. Integrated, theory-informed approaches targeting organizational structures, relational climates, and individual psychological resources are required to strengthen workforce sustainability and support high-quality care delivery.

Cat Scratch Disease (CSD), caused primarily by Bartonella henselae, typically presents with regional lymphadenitis. Atypical manifestations may mimic soft tissue tumors, posing significant diagnostic challenges in pediatric patients. To describe a pediatric case of chest wall pseudotumor initially suspected to be a soft tissue neoplasm, later identified as Bartonella infection, and to highlight the role of multimodality imaging in differentiating neoplastic from infectious lesions. The patient underwent laboratory testing, ultrasound, contrast-enhanced CT, FDG PET-CT, infectious disease screening, and lesion biopsy. Clinical and radiological evolution was monitored during hospitalization. PET-CT demonstrated intense FDG uptake (SUV 6) within the chest wall lesion and mild uptake in ipsilateral axillary lymph nodes (SUV 2.1). The lesion evolved into a draining abscess with fistulous tract. Biopsy revealed infectious inflammatory tissue consistent with Bartonella spp. infection, confirmed by serology. Targeted antibiotic therapy led to complete resolution. Atypical Bartonella infections may closely mimic soft tissue neoplasms on imaging. Integration of clinical, radiological, microbiological, and histopathological data is essential to avoid unnecessary invasive procedures.

Complicated and recurrent skin lesions in childhood should raise suspicion of neutropenia and prompt immuno-haematological evaluation. Through the case of an infant with recurrent dermatitis and suppurative skin infections associated with severe neutropenia, the paper highlights the importance of implementing an integrated diagnostic work-up. Early recognition of severe neutropenia and appropriate use of G-CSF may reduce the risk of potentially life-threatening infectious complications and significantly improve prognosis.

SummaryObjectiveEarly detection and prompt intervention of permanent hearing impairment (PHI) can only be achieved through universal newborn hearing screening (UNHS) in the first month of life. The most common screening protocols worldwide involve a combined approach with transient evoked otoacoustic emissions (TEOAEs) and automated auditory brainstem response (AABR). Our study aims to evaluate the proportion of infants with PHI in a population with discordant outcome TEOAEs/AABR through audiological follow-up.MethodsThe present study enrolled 637 healthy babies who failed TEOAEs at birth and were referred for a secondary level audiological evaluation with TEOAEs and AABR. Ninety babies with discordant outcome (TEOAEs refer/AABR pass) underwent audiological retest adding tympanometry and clinical click-evoked auditory brainstem response.ResultsPHI was confirmed in 12 babies (7 bilaterally and 5 unilaterally) and the degree was mild to moderate in 8 and in 4 babies, respectively. There were no risk factors for delayed onset of hearing loss in half of PHI.ConclusionsThe discordant TEOAEs refer/AABR pass suggests that follow-up should be recommended independently of risk factors for PHI to avoid misleading diagnosis of mild or late-onset hearing loss.

The pathophysiology of rumination syndrome is not entirely elucidated. We aimed to assess gastric emptying and fundic accommodation through solid gastric emptying scintigraphy in children with rumination syndrome and explore the relationship between scintigraphic findings and high-resolution impedance esophageal manometry results. Gastric retention at 1, 2, 3, and 4 h from standardized meal ingestion were measured. Delayed gastric emptying was defined as gastric retention > 10% at 4 h. The ratio of gastric counts in the proximal stomach to those in the entire stomach measured immediately after meal ingestion (IMD0) was used as a marker of fundic accommodation. A value of < 0.568 defined an impaired fundic accommodation. The number of rumination episodes occurring during the first postprandial hour of manometry recording were calculated. Among 33 children included (median age: 14 years) 10 (30%) had impaired fundic accommodation and 12 (36%) delayed gastric emptying. Children with impaired fundic accommodation have a higher median number of rumination events [10 (IQR 7-12) vs. 6 (IQR 4-89); p = 0.03] recorded during the first postprandial hour. Similarly, at 1-h children with delayed gastric emptying have a higher median number of rumination events [12 (IQR 10-13) vs. 6 (IQR 3-8); p = 0.0004]. The number of rumination events was inversely related to IMD0 (p = 0.03; r = -0.4) and directly related to gastric retention at 1-h in the whole stomach (p = 0.003; r = 0.5), fundus (p = 0.03; r = 0.4) and antrum (p = 0.02; r = 0.4). More than half of children with rumination syndrome included in our study present an abnormal gastric motor function on solid-meal gastric emptying scintigraphy that might contribute to the occurrence of rumination episodes. The detection of these abnormalities might enhance targeted clinical trials and patient management.

Background and ObjectivesAutosomal recessive DNAJC12 disease, the most recently identified disorder of biogenic amine synthesis, presents with a broad clinical spectrum and variable outcomes, ranging from asymptomatic patients to early-onset parkinsonism. This study aimed to better outline the clinical phenotype and outcomes of DNAJC12 disease, the prognostic value of the metabolic and genetic biomarkers, and the treatment response.MethodsWe systematically collected clinical, biochemical, and genetic data from 56 patients with DNAJC12 disease in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines: 51 from the literature since the disease was first described and 5 unpublished personal cases.ResultsThree prevalent clinical patterns of presentation and outcome were identified: (1) asymptomatic condition, (2) neurodevelopmental disorders (NDD) leading to intellectual disability with psychiatric issues and dystonia-parkinsonism (D-P) during the second decade of life in some patients, and (3) early-onset static l-dopa–responsive parkinsonism in previously asymptomatic adult patients. Hyperphenylalaninemia was the most consistent metabolic alteration. CSF depletion of homovanillic acid (HVA) and 5-HIAA was detected in 18 and 20 of 29 symptomatic patients, respectively. Three stepwise regression analyses identified significant predictors of clinical outcomes in patients with phenylketonuria (PKU). CSF HVA levels and phenylalanine levels at diagnosis predicted the occurrence of D-P, while 26% of intellectual disability variability was explained by CSF HVA at diagnosis, and 31% of psychiatric disorder variability by later age at diagnosis. The phenotype was consistently associated with only a few DNAJC12 pathogenic variants, primarily for phenotypes A and C.Movement disorders responded positively to the various therapies in all symptomatic patients. The preventive effects on NDD and psychiatric problems were less clear.DiscussionDNAJC12 disease is a new metabolic neurodevelopmental disorder linked to parkinsonism. The combined effects of neurotransmitter depletion and disrupted enzyme proteostasis in dopaminergic and serotoninergic neurons may underlie the early neurodevelopmental presentation and subsequent neurologic and psychiatric disorders.

Eosinophilic esophagitis (EoE) is an emerging disease characterized by chronic inflammation of the esophagus. EoE is a multifactorial disorder, likely resulting from the combination of genetic predisposition, epithelial barrier dysfunction, environmental risk factors, and allergen sensitization, which lead to type 2 inflammation of the esophagus. The clinical manifestations are related to esophageal dysfunction and include dysphagia, food impaction, heartburn, regurgitation, and food refusal. These symptoms are sometimes superimposable and can often be confused with the symptoms of gastroesophageal reflux disease. To-date, EoE diagnosis relies on endoscopic examination and histological analysis of esophageal biopsies, with the diagnostic criterion defined as the presence of ≥15 eosinophils per high-power field (eos/HPF). As a result, both the diagnostic and the subsequent disease monitoring processes, including assessment of treatment, efficacy, and remission status, require repeated endoscopic procedures. These procedures are rather invasive for patients, particularly in the pediatric population, and impose a significant financial strain on healthcare systems. Therefore, in recent years, substantial efforts have been made to identify novel non-invasive or minimally invasive biomarkers. This review aims at synthesizing the current findings and at categorizing the most promising biomarkers according to the different biological sources to ultimately enable earlier detection, reduce patient discomfort, and guide personalized treatment strategies.

Purpose: This study proposes a novel magnetic resonance (MRI)-based classification of cortical tubers (CTs) in tuberous sclerosis complex (TSC) patients that incorporates intralesional calcifications. We evaluated prevalence, temporal evolution, and genotype correlation of intra-tuberal calcifications in pediatric TSC patients, emphasizing susceptibility-weighted imaging (SWI) for detection. Materials and Methods: We retrospectively analyzed MRI scans of 57 unrelated pediatric TSC patients followed between 2014 and 2024 at a tertiary care center. Inclusion criteria included longitudinal imaging on the same 1.5T scanner, with T1w, T2w/FLAIR, and SWI sequences. CTs were classified into four MRI-based categories (A–D), with calcified tubers subdivided into micro-calcified and macro-calcified. Descriptive statistics, binomial tests, and Chi-square analyses were performed. Results: Calcified CTs were more prevalent than cystic ones. At baseline MRI, 63% of patients had calcified tubers (19% of all CTs), increasing to 77% at follow-up MRI (24% of all CTs). Micro-calcifications predominated at baseline MRI evaluation, though a significant proportion progressed to macro-calcifications over time. Calcified CTs always progressed from lower-grade lesions. Cystic tubers were rare (&lt;1%). Longitudinal analysis showed significant variation in CTs with inner calcification count (p = 0.0000023), but not in CTs with cystic components (p = 0.42072). No significant genotype–radiological phenotype association emerged. Conclusions: Intralesional calcifications in CTs are dynamic and detectable with SWI. The inclusion of calcification patterns in CT classification could offer insights that may prove useful for future prognostic and risk-stratification frameworks in pediatric TSC.