Italian Journal of Pediatrics最新文献

Beckwith-Wiedemann spectrum (BWSp) is a congenital imprinting disorder characterized by overgrowth, cancer predisposition, and diverse clinical manifestations, resulting from epigenetic and genetic alterations at chromosome 11p15.5. BWSp represents the most common imprinting disorder, with a prevalence exceeding 1:10,000. The disorder is primarily associated with loss or gain of methylation at imprinting control regions IC2 and IC1, paternal uniparental disomy of 11p15, or pathogenic variants in CDKN1C. Advances in molecular diagnostics have refined genotype-phenotype correlations, improving both clinical management and tumor screening protocols. This review, produced by the Scientific Committee of the Italian BWSp Association (AIBWS), builds upon the 2018 international consensus, incorporating updated scientific evidence up to 2024. The committee critically assessed post-2017 literature using PRISMA and Delphi methodologies to revise ten key topics, including diagnosis and criteria, prenatal testing, molecular testing strategies, tumor surveillance, macroglossia surgery, growth monitoring, limb-length discrepancy, cognitive and psychosocial outcomes, and MLID (multi-locus imprinting disturbances). A major focus is optimizing diagnosis in cases with negative methylation tests on DNA from blood, where somatic mosaicism often necessitates alternative tissue testing. The review emphasizes prenatal diagnosis challenges, recommends including ART-related pregnancies in diagnostic criteria, and proposes a prenatal scoring system. Updated tumor surveillance strategies are presented, including universal α-fetoprotein screening for hepatoblastoma up to 3 years and genotype-based protocols for Wilms tumor. CDKN1C-related neuroblastoma surveillance is also addressed. MLID, often co-occurring with IC2-LoM, is discussed regarding clinical relevance, testing strategies, and implications for recurrence risk, particularly involving maternal-effect gene variants. Orthopedic and surgical management of limb-length discrepancy (LLD) and macroglossia is reviewed, alongside growth chart development and their role in personalized interventions. New findings on cognitive, behavioral, and psychosocial aspects highlight the need for routine screening and supportive care. The transition to adult care remains underexplored, though recommendations include attention to residual pediatric complications, fertility, and potential long-term risks. This review reinforces the importance of a multidisciplinary and personalized approach to BWSp across the lifespan, calling for further research to refine diagnostics, long-term outcomes, and transition models.

Ceftriaxone is commonly used in pediatric infections, but its association with cholelithiasis poses potential health concerns. To determine the pooled frequency of ceftriaxone-induced cholelithiasis in pediatric patients and identify factors commonly associated with its occurrence. Web of Science, PubMed, Google Scholar, and Scopus were systematically searched until March 2024.Studies reporting ceftriaxone-induced cholelithiasis in pediatric patients (0-18 years) were included. Randomized controlled trials (RCTs) and prospective and retrospective cohort studies published in English were eligible. PRISMA guidelines were followed. The Newcastle‒Ottawa Scale and CASP tools were used to assess risk of bias. A random-effects meta-analysis estimated the pooled frequency. Sensitivity analysis was conducted to explore heterogeneity. The primary outcome was the pooled frequency of ceftriaxone-induced cholelithiasis. Secondary outcomes included identification of factors commonly associated with its occurrence and their impact on symptom burden. Eleven studies (1 RCT, 10 cohort studies) met the inclusion criteria. The pooled frequency of cholelithiasis was 15% (95% CI: 9-23%), with significant heterogeneity (I² = 81.76%). Commonly associated factors included high ceftriaxone doses (> 2 g/day), prolonged use (> 5 days), short bolus injections, and dehydration. Most cases resolved upon discontinuation, but symptomatic patients experienced nausea, vomiting, and abdominal pain. Ceftriaxone-induced cholelithiasis is relatively common in pediatric patients, particularly those with associated risk factors. Clinicians should monitor for biliary complications and consider alternative treatments when feasible. PROSPERO REGISTRATION: CRD42024503807.

Antimicrobial Stewardship Programs (ASPs) and Diagnostic Stewardship Programs (DSPs) are essential for optimizing infectious disease management and addressing antimicrobial resistance (AMR). However, the implementation of pediatric ASPs presents distinct challenges that set them apart from adult-focused initiatives. Additionally, many existing ASP guidelines are primarily tailored to the U.S. healthcare system, requiring significant adaptation to fit the diverse healthcare infrastructures, resources, and prescribing practices across different countries. These factors highlight the need for context-specific strategies to ensure the effective implementation of pediatric ASPs worldwide. To develop a national, intersociety consensus on pediatric ASPs in Italy, an ASP steering committee was established, bringing together a multidisciplinary group of experts. A systematic scoping review was conducted to identify relevant literature on ASPs and DSPs published between 2007 and August 2024, retrieving 260 articles. Based on this evidence, 33 recommendations were formulated, covering general ASP and DSP principles (10 recommendations), ASP interventions (14), DSP interventions (3), and monitoring strategies (6). Consensus on the importance and feasibility of each recommendation was reached using the Delphi method, with two rounds of anonymous questionnaires. The steering group defined a priori criteria for recommendation acceptance, requiring at least 80% agreement on the importance of each item. This consensus highlights the critical role of a multidisciplinary approach in ASP implementation, supported by institutional leadership. Given the variability in healthcare systems, ASP interventions must be tailored to specific settings, considering factors such as hospital resources, patient complexity, and the parent-child dynamic. Standardized metrics for assessing the impact of ASPs are essential for benchmarking and ensuring sustainability, although data collection remains a significant challenge. While there was strong agreement on the importance of the recommendations, feasibility assessments identified key areas requiring further refinement, particularly in settings with limited pediatric-specific expertise and diagnostic tools. This national consensus provides a structured framework for the implementation of pediatric ASPs in Italy, equipping clinicians with essential tools to optimize antibiotic use in both inpatient and outpatient settings. It represents a foundational step toward improving pediatric ASP, fostering national and international collaboration, and guiding future research to address implementation barriers.

Background: Hypoglossal nerve palsy (HNP), although rare, can result from various causes and more commonly in children is secondary to infectious etiologies. Its optimal management requires accurate diagnosis and exclusion of severe complications like Lemierre's syndrome, vascular events, tumors, or demyelination/inflammatory processes).

Case presentation: A previously healthy 16-year-old boy was diagnosed with HNP, infectious mononucleosis and Fusobacterium necrophorum tonsillitis. The patient presented with fever, neck swelling, and swallowing difficulty, accompanied by left-side tongue deviation. Prompt treatment with clindamycin and prednisone led to rapid improvement of symptoms (within 5 days) and complete recovery after 4 weeks.

Conclusions: This case highlights the importance of considering uncommon neurological complications in patients with common diseases. An extensive literature review on HNP in childhood was conducted, summarizing the diverse etiologies, clinical presentations, diagnostic tests, and treatment approaches.

Background: Hemophagocytic syndrome (HPS), also known as hemophagocytic lymphohistiocytosis (HLH), is characterized by persistent fever, cytopenias, hepatosplenomegaly, and elevation of typical HLH biomarkers, often associated with a high mortality rate. Secondary HLH is frequently triggered by infections, with viral HLH being the most common infectious etiology in children. Although various viruses have been implicated in the induction of HLH, reports of HLH triggered by rotavirus infection are scarce, primarily occurring in post-transplantation immunosuppressed patients. The condition has a poor prognosis and is associated with a high mortality rate.

Case presentation: This study presents a case of a 4-year-old boy, previously healthy and not in an immunosuppressed state, who developed HLH symptoms following rotavirus infection. Genetic testing revealed no HLH-related mutations. Initially, the patient presented with severe pneumonia and a suspected lung abscess. After receiving anti-infective treatment, the pneumonia improved. During the stable recovery phase, the child developed vomiting, diarrhea, and recurrent fever. Stool tests were positive for human rotavirus antigen. Despite symptomatic treatment, the fever persisted and worsened, accompanied by abdominal pain, rash, neutropenia, hyperferritinemia, hypofibrinogenemia, hypertriglyceridemia, and liver dysfunction. Bone marrow biopsy revealed phagocytic activity, leading to a strong clinical suspicion of HLH. The patient was subsequently treated with corticosteroids and supportive therapy. The child responded rapidly, with symptom resolution, normalization of inflammatory and hematologic markers, and a favorable outcome.

Conclusion: This case highlights a rare but critical presentation of hemophagocytic syndrome-like symptoms triggered by rotavirus infection in a non-immunocompromised child. Given the high mortality associated with HLH, especially when triggered by common viral infections, clinicians should maintain a high index of suspicion and initiate early intervention when compatible symptoms arise.

Background: The integration of artificial intelligence (AI) and advanced large language models in medical education and clinical practice is reshaping healthcare. These technologies have significant potential to enhance training experience and quality of life for medical residents. By automating routine tasks such as documentation and preliminary data analysis, AI-driven models can significantly reduce the workload, enabling residents to focus more on direct patient care and hands-on learning opportunities.

Main body: AI-driven support in diagnostics and decision-making may also reduce diagnostic errors, fostering a safer and more efficient healthcare environment. Furthermore, by alleviating administrative burdens, AI could play a critical role in mitigating resident burnout, contributing to a more resilient healthcare workforce and ultimately improving the continuity and quality of patient care. However, the adoption of AI in medical practice poses challenges. Automation risks reducing essential clinical skills, and over-reliance on AI may impact on professional autonomy and the development of diagnostic capacities. Concerns also persist regarding biased data, data security, legal issues, and the transparency in AI-driven decision-making processes.

Conclusion: Addressing these challenges requires collaboration among healthcare professionals, AI developers and policymakers, as well as ethical frameworks and country-specific regulations. Only through a balanced and collaborative approach can we unlock AI's full potential to create a more efficient, equitable, and patient-centered healthcare system.

Background: The use of continuous renal replacement therapy (CRRT) has expanded from children to neonates. In addition to acute kidney injury (AKI), it is also used in critically ill neonates with hyperammonemia, sepsis, and multiple organ dysfunction syndromes (MODS).

Methods: We retrospectively analyzed clinical data of 52 neonates with MODS treated with CRRT at two tertiary hospitals. Hemodynamic parameters, hepatic and renal function were recorded before CRRT, 12, 24 h after CRRT initiation, and at the end of CRRT, respectively. Further analysis of mortality factors in neonates with MODS treated with CRRT was performed.

Results: (1) The most common primary diseases of 52 critically ill neonates with MODS were neonatal asphyxia, neonatal sepsis and inborn errors of metabolism (IEM). The median number of organs involved was 4.0 (3.0, 5.0), with the respiratory system, cardiovascular system and kidneys being the most commonly involved organs. (2) Compared to pre-CRRT, the mean arterial pressure (MAP), lactate, serum creatinine (SCr), blood urea nitrogen (BUN), and urine output of neonates with MODS were significantly improved at 12 h of CRRT. Vasoactive inotropic score (VIS) and pH improved significantly at 24 h of CRRT. (3) The overall mortality rate of 52 critically ill neonates with MODS was 38.5%. Risk factors associated with death included primary disease, number of organs involved, the neonatal critical illness score (NCIS), MAP, lactate and urine output. Multi-factorial logistic regression analysis showed that NCIS was an independent risk factor for death in neonates with MODS treated with CRRT.

Conclusions: Mortality of critically ill neonates with MODS who receiving CRRT remains high, and NCIS is an independent risk factor for their deaths. CRRT may be a safe and effective adjunctive therapy for critically ill neonates with MODS.