Ital J Pediatr [JOURNAL]
Sun
200 papers
Burden of non-invasive fungal infections and antifungal therapy in pediatric primary care settings: FUNGICARE Project.
Chiusaroli L, Gres E, Cangiano CC … +5 more , Cantarutti A, Donà D, Giaquinto C, Baldo V, Barbieri E
Ital J Pediatr · 2026 May · PMID 42192455 · Full text
BACKGROUND: Fungal infections are common worldwide and a frequent reason for pediatric primary care visits, mainly affecting the skin, hair, and nails, with a consistently high prevalence in outpatient settings. This stu...
BACKGROUND: Fungal infections are common worldwide and a frequent reason for pediatric primary care visits, mainly affecting the skin, hair, and nails, with a consistently high prevalence in outpatient settings. This study aimed to assess the burden of fungal infections in pediatric primary care in Italy and characterize the patterns of antifungal therapy use. METHODS: This population database analysis used data from Pedianet, a comprehensive database of 193 family pediatricians in Italy. The annual incidence rate (IR) of fungal infections was evaluated in children aged < 14 years from January 2010 to December 2024. Subjects were followed up from 2010 or their enrollment date until the end of assistance or the end of the study period. All antifungal treatments occurring within an episode were included. RESULTS: A total of 23,463 episodes of fungal infection were identified, including 23,034 episodes of skin and mucocutaneous mycoses and 429 episodes of onychomycosis. The most frequent diagnoses were Candida-associated diaper dermatitis (52.1%) and mucocutaneous candidiasis (27.4%). Between 2010 and 2019, the incidence of fungal infections remained stable at 11-14 cases per 1,000 person-years. A marked decline across all age groups was observed in 2020, reflecting the impact of the SARS-CoV-2 pandemic. Regarding treatment, 144/429 (33.6%) of onychomycosis episodes received an antifungal prescription, mainly tioconazole, while 8347/23,034 (36.3%) of skin and mucocutaneous mycoses were treated, predominantly with clotrimazole. CONCLUSION: This population-based cohort study updates the epidemiology of non-invasive fungal infections in pediatric outpatients and underscores the need for greater awareness, improved diagnosis, prevention, and antifungal stewardship in primary care.
Smoking cessation in adolescents and effective strategies: a position paper.
Corsello A, Di Cicco ME, Reali L … +7 more , Ghezzi M, Venditto L, Ferraro VA, Spatuzzo M, Agostiniani R, Indinnimeo L, La Grutta S
Ital J Pediatr · 2026 May · PMID 42185937 · Full text
Adolescent nicotine dependence represents a public health challenge, driven by the rapid evolution of tobacco products and by the unique neurobiological vulnerability of the developing brain to nicotine exposure. Clinica...
Adolescent nicotine dependence represents a public health challenge, driven by the rapid evolution of tobacco products and by the unique neurobiological vulnerability of the developing brain to nicotine exposure. Clinically significant dependence may emerge after brief and intermittent use, often before adolescents self-identify as users, underscoring the need for proactive and systematic screening across all nicotine and tobacco product modalities. This position paper reviews the evidence on effective cessation strategies for adolescents and provides practical recommendations for clinicians and health systems. Psychological interventions, including cognitive-behavioral therapy and shared decision-making, remain the cornerstone of treatment, given their alignment with the motivational and developmental characteristics of this age group. Educational approaches, particularly school-based and digital interventions, show promise in reducing initiation and supporting cessation among current users. Family engagement and school environment play a critical supporting role, provided that adolescent confidentiality is consistently respected. Pharmacological options are limited by the absence of approved medications for individuals under 18 years of age. However, off-label use of nicotine replacement therapy may be considered in cases of moderate-to-severe dependence under specialist oversight. Effective strategies require integrated care pathways linking primary pediatric care, school health services, and community resources, supported by policy measures that reduce product accessibility and appeal. This joint position paper, endorsed by the Italian Society of Pediatrics (SIP) and the Italian Pediatric Respiratory Society (SIMRI), provides evidence-based recommendations for adolescent smoking cessation, encompassing educational and clinical interventions.
Identification of a different DNA methylation pattern for pain related genes in children with intellectual disability: a cross-sectional study.
Celsi F, Zupin L, Senn F … +7 more , d'Adamo P, Cappellani S, De Zen L, Cozzi G, Selicorni A, Barbi E, Peri F
Ital J Pediatr · 2026 May · PMID 42152106 · Full text
BACKGROUND: Children with intellectual disability are more likely to experience chronic and neuropathic pain, which remains frequently under-recognized due to limitations in self-reporting and objective assessment tools....
BACKGROUND: Children with intellectual disability are more likely to experience chronic and neuropathic pain, which remains frequently under-recognized due to limitations in self-reporting and objective assessment tools. Epigenetic mechanisms, particularly DNA methylation, are believed to influence pain perception. This study investigates the differences in methylation patterns between children with intellectual disability and their age- and sex-matched neurotypical controls. METHODS: A cross-sectional study was carried out from March 2022 to July 2023 at the IRCCS Burlo Garofolo in Trieste, Italy. The methylation profiles of children with severe to profound intellectual disabilities and a history of recurrent pain episodes were compared to those of healthy controls. Whole blood DNA was analysed through bisulfite conversion and microarray technology, focusing on CpG islands, gene regions, and enhancers. RESULTS: Seventy-two participants were enrolled, including 36 children with intellectual disability and 36 without. The analysis identified four Differentially Methylated Regions (DMRs). DMR1, located within the *RNF39* gene, was found to be hypomethylated in children with intellectual disabilities. Similarly, DMR2, upstream of *VTRNA2-1* and *MIR886*, and DMR4, at the 5'UTR of *AURKC*, were also hypomethylated. In contrast, DMR3, positioned upstream of *IRF6*, was hypermethylated in the intellectual disability group. CONCLUSIONS: These findings indicate that children with intellectual disability exhibit distinct methylation patterns of genes related to pain pathways compared to their healthy peers. Additional research is needed to investigate the clinical relevance of these epigenetic alterations and their potential as biomarkers for pain in this population.
The hospital policy on breastfeeding project to promote breastfeeding in Italy: not so ambitious, still effective.
Davanzo R, Salvatori G, Baldassarre ME … +5 more , Gagliardi L, Viora E, Scarpato E, Agosti M, HPB Project Working Group
Ital J Pediatr · 2026 May · PMID 42129880 · Full text
BACKGROUND: According to the available data, the breastfeeding rate at hospital discharge is suboptimal in Italy. The present study aims to evaluate the effectiveness of the Hospital Policy on Breastfeeding (HPB) Project...
BACKGROUND: According to the available data, the breastfeeding rate at hospital discharge is suboptimal in Italy. The present study aims to evaluate the effectiveness of the Hospital Policy on Breastfeeding (HPB) Project launched by the Italian scientific societies specialising in perinatal care to promote breastfeeding in maternity hospitals (MHs). METHODS: The HPB project was designed as an open before-after study to increase the rate of exclusive breastfeeding at hospital discharge in a population of healthy term infants with a normal birth weight following a bundle intervention. The primary outcome was the breastfeeding rate at hospital discharge. The secondary outcomes were data on the elements of the bundle intervention: 1) establishment of a local hospital breastfeeding working group, 2) adoption of a breastfeeding policy, 3) breastfeeding training for perinatal care professionals, 4) enhanced implementation of skin-to-skin contact practice at childbirth and mother-baby rooming-in, and 5) development and/or improvement of breastfeeding-related protocols. RESULTS: Of the 104 hospitals that were initially enrolled in a two-years study between February 2023 and January 2025, 97 completed it. The exclusive breastfeeding rate and the fully breastfeeding rate of healthy term newborns with a normal birth weight at hospital discharge increased from 67.3% to 71.0% (p < 0.001), and from 69.3% to 71.3% (p < 0.001), respectively over a four-month period. Moreover, all secondary outcomes improved. Specifically: 1) more MHs set up a multidisciplinary breastfeeding working group, developed breastfeeding policy and prepared the breastfeeding-related protocols, 2) the proportion of perinatal healthcare workers trained in breastfeeding increased from 55.9% up to 71.7% (p < 0.001), and 3) the proportion of newborns who experienced skin-to-skin contact in the delivery room after vaginal delivery increased from 76.9% to 89.4% (p < 0.001), as did the proportion of newborns who experienced rooming-in, from 83.9% to 85.4% (p < 0.05), as measured over a one-month period. CONCLUSION: The HPB Project successfully promoted exclusive breastfeeding at hospital discharge, as well as skin-to-skin contact and rooming-in practices, among healthy term infants with a normal birth weight, in a large sample of Italian MHs.
Hemodynamic effects of high frequency oscillatory ventilation versus conventional mechanical ventilation in term neonates with persistent pulmonary hypertension: a single-center randomized trial.
El Amrousy D, Koura H, Abdou N … +2 more , Awny M, Elmashad A
Ital J Pediatr · 2026 May · PMID 42116170 · Full text
BACKGROUND: We aimed to evaluate the hemodynamics in full-term neonates with persistent pulmonary hypertension (PPH) on high frequency oscillatory ventilation (HFOV) versus conventional mechanical ventilation (CMV). METH...
BACKGROUND: We aimed to evaluate the hemodynamics in full-term neonates with persistent pulmonary hypertension (PPH) on high frequency oscillatory ventilation (HFOV) versus conventional mechanical ventilation (CMV). METHODS: This trial was conducted on 64 full-term neonates with PPH who needed MV and were randomly divided into two groups: group I: 32 neonates with PPH on HFOV, and group II: 32 neonates with PPH on CMV. Two neonates weaned early from group I, and another two neonates died in group II; they were excluded from the study. Heart rate (HR), systolic, diastolic, and mean blood pressure (SBP, DBP, MBP) were recorded. Echocardiography was performed to measure right ventricular diameter (RVD), right atrial diameter (RAD), mean pulmonary artery diameter (MPA), left ventricular dimensions, LV systolic function, tricuspid pressure gradient (TR PG), systolic pulmonary artery pressure (SPAP), tricuspid annulus plane systolic excursion (TAPSE), superior vena cava (SVC) flow, right and left ventricular output (RVO, LVO). Cerebral ultrasound was done to measure the resistive index (RI) of middle cerebral artery (MCA) and to detect intraventricular hemorrhage (IVH). All measurements were performed at day 1, 3, and 7. RESULTS: HR, RVD, RAD, and MPA significantly decreased, but SBP, DBP, MBP, LVO, LV dimensions, and function significantly increased in both groups at day 7. SPAP and TR PG decreased significantly at day 3 and 7; however, TAPSE and RVO increased significantly at day 3 and 7 in both groups. LVO and RVO increased more significantly at day 7 in the CMV group. SVC flow didn't differ significantly in both groups on follow-up. RI of MCA significantly decreased in the HFOV group only at day 7. Moreover, IVH was comparable in both groups. CONCLUSION: HFOV and CMV have positive comparable effects on hemodynamics in full-term neonates with PPH. CLINICAL TRIAL REGISTRATION: The study was registered at pan African clinical trial registry with registration number (PACTR202104624409011) with registration date 6th April 2021. Link for trial registration ( https://pactr.samrc.ac.za/TrialDisplay.aspx?TrialID=15789 ).
A new 308 A-G substitution in HBG2 in an acyanotic newborn: case report.
Pellicani S, Capozza M, Andolfo I … +3 more , Russo R, Iolascon A, Laforgia N
Ital J Pediatr · 2026 May · PMID 42116066 · Full text
BACKGROUND: Neonatal hypoxemia in absence of structural cardiopulmonary anomalies is a diagnostic challenge. Haemoglobin variants involving the gamma-globin gene are recognized causes of transient desaturation in the new...
BACKGROUND: Neonatal hypoxemia in absence of structural cardiopulmonary anomalies is a diagnostic challenge. Haemoglobin variants involving the gamma-globin gene are recognized causes of transient desaturation in the newborn period. We report a novel HBG2 mutation identified in a clinically stable, non-cyanotic neonate born to a mother with active SARS-CoV-2 infection, highlighting a previously unreported variant with potential functional consequences on haemoglobin-oxygen affinity. METHODS: A term female newborn was delivered vaginally to a 39-years-old mother with gestational diabetes, thrombocytopenia, and SARS-CoV-2 infection, confirmed by real-time PCR at the time of delivery. The infant exhibited no signs of respiratory distress and normal blood gas analysis, but pulse oximetry revealed persistent arterial oxygen saturation of 88% in room air. Supplemental oxygen therapy (FiO₂ 23%) was initiated, resulting in a gradual improvement in saturation levels. Clinical examination and imaging were unremarkable, in particular no cardiac disease was present on heart ultrasound. Laboratory findings showed normal hemoglobin, haematocrit, and erythrocyte morphology, with a slightly reduced reticulocyte count. RESULTS: Hemoglobin electrophoresis revealed elevated fetal hemoglobin (HbF) (56.6%) with the presence of an abnormal variant band. Molecular analysis identified a heterozygous missense variant in the HBG2 gene (NM_000184.3:c.308 A > G), classified as likely pathogenic according to ACMG/AMP guidelines. Additionally, a promoter region polymorphism (NM_000184.3:c.-211 C > T (rs7882144), associated with increased fetal hemoglobin expression, was detected. No other etiologies were identified. The clinical course was uneventful and oxygen saturation normalized by one month of age without further intervention. CONCLUSIONS: This case expands the known spectrum of neonatal hemoglobinopathies by describing a novel gamma-globin variant associated with transient hypoxemia. In the absence of methemoglobinemia, cyanosis, or structural abnormalities, a diagnosis of functional hemoglobinopathy was supported. While no causal relationship with maternal SARS-CoV-2 infection was established, this case raises questions about possible effects of maternal infection on fetal gene expression. Comprehensive diagnostic evaluation, including molecular analysis, is essential in cases of unexplained neonatal desaturation to avoid misdiagnosis and provide accurate prognostic and genetic counseling.
A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders.
Salah S, Mobarak A, Alshanbari SN … +4 more , Bukhari AA, Alsobhi F, Farahat SAA, Masmali HM
Ital J Pediatr · 2026 May · PMID 42106860 · Full text
BACKGROUND: Blood disorders in children can present with a wide range of nonspecific symptoms, which may overlap with other conditions. Traditional diagnostic methods can sometimes struggle to identify the underlying cau...
BACKGROUND: Blood disorders in children can present with a wide range of nonspecific symptoms, which may overlap with other conditions. Traditional diagnostic methods can sometimes struggle to identify the underlying cause. Whole-exome sequencing (WES)-is increasingly recognized as a valuable diagnostic tool, as early genetic diagnosis can offer clarity, enabling more personalized treatment approaches and improving prognostic accuracy. METHODS: Between January 2022 and December 2024, 67 patients at the pediatric hematology department of Maternity and Children Hospital in Makkah, Saudi Arabia, underwent WES after conventional diagnostic methods failed to provide definitive diagnoses. We retrospectively analysed their results. RESULTS: The study included 67 patients with an average age of 6.5 ± 4.6 years (range 0.1-18 years), 53% of whom were male. The majority (88%) were of Saudi descent. WES provided a molecular diagnosis for 49% (n = 33) of the patients, identifying pathogenic or likely pathogenic variants. In 11% (n = 8) of the patients, no variants were found, whereas 38% (n = 26) had variants of uncertain significance in phenotype-related genes. A nonhematological diagnosis was given to 28% of the patients. CONCLUSION: Whole-exome sequencing is a valuable tool for diagnosing challenging pediatric blood disorders. The findings also underscore its importance in identifying complex or multifactorial disorders.
Clinical outcomes of the 2022 AAP hyperbilirubinemia guideline in term and late-preterm infants: a prospective study in Thailand.
Lueangapapong N, Srinithiwat B, Jangmeonwai P … +7 more , Pipatkullachart T, Kongchalard J, Phavichitr P, Chuabmee R, Piyawannakul R, Thanakitcharu J, Aeimcharnbanchong K
Ital J Pediatr · 2026 May · PMID 42106782 · Full text
BACKGROUND: Neonatal jaundice is a common condition, occurring in approximately 80% of term infants during the first week of life. Timely diagnosis and management are essential to prevent bilirubin-induced neurological d...
BACKGROUND: Neonatal jaundice is a common condition, occurring in approximately 80% of term infants during the first week of life. Timely diagnosis and management are essential to prevent bilirubin-induced neurological damage. In 2022, the American Academy of Pediatrics (AAP) updated its guideline for managing hyperbilirubinemia in infants ≥ 35 weeks' gestation, raising treatment thresholds and recommending individualized follow-up based on gestational age, neurotoxicity risk factors, and the bilirubin-treatment threshold difference. Evidence from low- and middle-income countries on the clinical impact of these guideline is limited. METHODS: We conducted a prospective observational study at Panyananthaphikkhu Chonprathan Medical Center, Thailand, from February 2024 to January 2025, including 1,104 neonates ≥ 35 weeks' gestation. All infants underwent total serum bilirubin (TSB) screening within 72 h of birth and were managed according to the 2022 AAP guideline. Phototherapy rates, follow-up recommendations, readmissions, exchange transfusions, and cases of acute bilirubin encephalopathy were recorded. In addition, the infants' TSB values were retrospectively applied to the 2004 AAP guideline to assess eligibility for phototherapy. Among infants who did not receive phototherapy, TSB values were retrospectively applied to the Bahr 2021 nomogram to determine follow-up recommendations for comparison with management based on the 2022 AAP guideline. RESULTS: Phototherapy was required in 221 infants (20.0%), representing a 38% relative reduction compared with the rate observed when the 2004 AAP guideline was retrospectively applied (32%; p < 0.001). Follow-up rates decreased from 56.9% under the Bahr 2021 nomogram to 52.7% under the 2022 guideline (absolute reduction, 4.3%; relative reduction, 7.5%; 95% CI, 5.91-9.03; p = 0.044). Readmission occurred in 127 infants (11.5%), most commonly due to suboptimal intake. No cases of acute bilirubin encephalopathy or exchange transfusion were reported. CONCLUSIONS: Implementation of the 2022 AAP guideline reduces phototherapy use and unnecessary follow-up visits without increasing adverse outcomes. With clearly structured follow-up schedules and close monitoring of infants at risk of developing severe jaundice, high-risk newborns can be managed effectively and safely. These findings support the applicability of the guideline in routine clinical practice, including in middle-income countries.
The association between plasma IgG N-glycosylation and viral encephalitis in children: a hospital-based case-control study.
Zhang Y, Lin Z, Niu H … +5 more , Wang Y, Jin X, Tang L, Hou H, Li C
Ital J Pediatr · 2026 May · PMID 42106760 · Full text
BACKGROUND: Viral encephalitis (VE) is an acute inflammatory disease caused by viral infection. Children are at a significantly higher risk of developing VE than adults. Immunoglobulin G (IgG) N-glycosylation plays a key...
BACKGROUND: Viral encephalitis (VE) is an acute inflammatory disease caused by viral infection. Children are at a significantly higher risk of developing VE than adults. Immunoglobulin G (IgG) N-glycosylation plays a key role in regulating the balance between anti-inflammatory and pro-inflammatory responses. This study aimed to investigate the profile of IgG N-glycosylation among children with VE. METHODS: This case-control study included 117 children with VE and 117 healthy controls. Plasma IgG N-glycans were detected using hydrophilic interaction liquid chromatography with the ultra-high-performance liquid chromatography (HILIC-UPLC). An enzyme-linked immunosorbent assay (ELISA) kit was applied to detect inflammatory cytokines. Canonical correlation analysis (CCA) was performed to investigate the correlation between IgG N-glycans and inflammatory cytokines. The Least Absolute Shrinkage and Selection Operator (LASSO) and machine learning algorithms were used to identify the significant glycans. RESULTS: Among 24 initially detected glycans, 14 were significantly higher and 3 lower in children with VE compared to the healthy controls (P < 0.05). Moreover, children with VE showed lower levels of fucosylation (P < 0.001) and agalactosylation (G0) (P < 0.001), whereas higher levels of bisecting N-acetylglucosamine (GlcNAc) (P = 0.026), sialylation (P < 0.001), and monogalactosylation (G1) (P < 0.001). Notably, the level of bisecting GlcNAc was significantly higher in VE children who had a shorter hospital stay compared to those with a longer hospital stay (P = 0.034). The levels of interferon-gamma (IFN-γ), interleukin-2 (IL-2), IL-6, high-sensitivity C-reactive protein (hs-CRP), and tumor necrosis factor-α (TNF-α) were significantly higher in children with VE than in the healthy controls (P < 0.001). IgG N-glycans composition was strongly correlated with inflammatory cytokines (r = 0.849). GP1, GP3, GP6, GP7, GP9, GP16, GP21, GP22, GP23, and GP24 were identified by Boruta algorithms to develop a glycan-based diagnostic model for VE. The areas under the receiver operating characteristic curve (AUCs) were 0.987 for the training set and 0.998 for the validation set. CONCLUSION: IgG N-glycosylation may contribute to the pathogenesis of VE. IgG N-glycans may act as potential biomarkers for monitoring VE in high-risk children.
Efficacy and safety of non-pharmacological interventions for gastroesophageal reflux and gastroesophageal reflux disease in children: a systematic review.
Banderali G, Mameli C, Bozzola E … +13 more , Di Stefano VA, Greco L, Pecoraro C, Rugolotto S, Scarpato E, Sollai S, Vassallo F, Verduci E, Orso M, Guadagni L, Corsello G, Agostiniani R, Staiano A
Ital J Pediatr · 2026 May · PMID 42098776 · Full text
BACKGROUND: Gastroesophageal reflux (GER) and gastroesophageal reflux disease (GERD) are common in infants and children. Non-pharmacological approaches are widely used, but their efficacy and safety remain uncertain. Thi...
BACKGROUND: Gastroesophageal reflux (GER) and gastroesophageal reflux disease (GERD) are common in infants and children. Non-pharmacological approaches are widely used, but their efficacy and safety remain uncertain. This systematic review evaluates the current evidence on non-pharmacological interventions for pediatric GER and GERD. METHODS: We conducted a systematic review following Cochrane methodology and PRISMA 2020 guidelines (PROSPERO: CRD420251041380). We included randomized controlled trials and systematic reviews of non-pharmacological interventions for GER or GERD in individuals aged 0-18 years. Eligible interventions included dietary modifications, positioning, alginates, probiotics, massage, and complementary therapies. Study selection, data extraction, and risk of bias assessment were performed in duplicate. Due to heterogeneity, meta-analyses were not conducted. Certainty of evidence was assessed using the GRADE approach. RESULTS: We included 40 studies: 39 RCTs (15 crossover) and one systematic review. Most studies involved infants with uncomplicated GER or GERD. Interventions included dietary modifications (n = 25), probiotics (n = 3), alginates (n = 4), positioning (n = 6), and massage therapy (n = 2). Most trials reported regurgitation or Infant Gastro-Esophageal Reflux Questionnaire Revised as primary outcomes. Several interventions, especially thickened feeds, probiotics, alginates, and left lateral positioning, were associated with reduced regurgitation frequency. Risk of bias was frequently high, and GRADE certainty ranged from very low to moderate, depending on outcome and intervention type. CONCLUSIONS: Thickened formulas and alginates showed the most consistent symptom improvement in infants with GER or GERD, though overall evidence quality was low to moderate. Other interventions yielded mixed results. Non-pharmacological strategies appear generally safe, but further high-quality research is needed to support clinical decision-making.
Global burden and time trends of vaccine-preventable diseases in children and adolescents.
Jin X, Wang R, Tu S … +6 more , Yuan C, Ge F, Liu Y, Wang S, Ma Y, Sun G
Ital J Pediatr · 2026 May · PMID 42087201 · Full text
BACKGROUND: Vaccine-preventable diseases (VPDs) are a major global health concern for children and adolescents. The COVID-19 pandemic further complicated VPDs prevention by halting vaccinations in many areas. This study...
BACKGROUND: Vaccine-preventable diseases (VPDs) are a major global health concern for children and adolescents. The COVID-19 pandemic further complicated VPDs prevention by halting vaccinations in many areas. This study aimed to analyze the global burden and trends of eight high - burden VPDs in 0 - 19 - year - olds from 1990 to 2021. METHODS: Using data from the Global Burden of Disease 2021 database across 204 countries, incidence and DALYs were stratified by age, sex, and SDI. A linear regression model calculated AAPCs, and a joinpoint regression model identified a significant trend - change years. The SII and CII quantified SDI-related burden inequality. RESULTS: From 1990 to 2021, global VPDs incidence and DALYs decreased. However, in 2021, there were still a large number of cases and DALYs. Hepatitis E DALYs rose, especially in males and infants. Males generally had a higher incidence of most VPDs. Lower SDI regions had heavier burdens, except for varicella and herpes zoster in high-SDI areas. The COVID-19 pandemic increased the incidence of some VPDs. CONCLUSIONS: Despite progress in VPDs control, gaps in vaccination, socioeconomic inequalities, and new threats like hepatitis E remain. Targeted actions such as perinatal immunization, hepatitis E vaccination in endemic areas, and restoring pandemic-affected health systems are needed to achieve global health equity.
Inter-society consensus on the management of acute bloody diarrhea and shiga toxin-producing Escherichia coli infection in the molecular microbiology era.
Ardissino G, Agostiniani R, Benatti SV … +33 more , Bonardi S, Brasca M, Brigotti M, Callegaro A, Centrone F, Chironna M, Clerici P, Daprai L, Dato L, Debertolis G, Decastelli L, Decembrino L, Nicola L, Mauro GD, Folli F, Gabrielli L, Gazzola A, La Porta E, Losio MN, Lo Vecchio A, Luini M, Magistrali CF, Mancuso MC, Marcantoni C, Morabito S, Nicolini G, Norsa L, Pasini A, Picozzi C, Principi N, Romano C, Ruzza ML, Zampogna S
Ital J Pediatr · 2026 Apr · PMID 42050676 · Full text
Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli (STEC-HUS) infection is a major individual and public health challenge, and the leading cause of acute kidney injury in children. In Wester...
Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli (STEC-HUS) infection is a major individual and public health challenge, and the leading cause of acute kidney injury in children. In Western countries, HUS complicates about 15% of STEC infections, which are responsible for acute bloody diarrhea (ABD) in at least 6–7% of cases in children (rising to over 15% during late summer). The widespread use of molecular microbiology techniques enables the diagnosis of STEC infection before HUS onset in an increasing number of patients, creating a potential window of preventive and therapeutic opportunities. Given the rapid progression of the disease, all children with ABD should be tested for Shiga toxin (Stx) encoding genes as early as possible. Stx-positive patients should then be closely monitored for HUS development by urine dipstick, to detect hemoglobinuria.This proactive diagnostic approach creates the opportunity to anticipate the application of measures that have already been proven to mitigate the severity of HUS, among which stands the early and generous fluid administration, but most importantly opens a window to explore preventive and therapeutic interventions. In detail, even though antibiotics are not historically recommended in STEC infections, recent data suggest a promising potential preventive role for bacteriostatic agents (e.g., azithromycin) during the initial stages of the infection.The aim of the present contribution is to share this approach to ABD and STEC infection as endorsed by the Italian scientific societies actively engaged in this area (AMCLI, SIGENP, SIMEUP, SIN, SIP, SIPPS, SITIP) through an intersocietal consensus. The goal is to promote the early diagnosis of STEC infection nationwide, thereby improving our understanding of the mechanisms of disease spreading, and hopefully reduce the rate of progression to HUS, its case fatality rate and possibly improve both short- and long-term outcomes.
Evidence-based clinical recommendations on the use of telemedicine for the management of children, adolescents and young adults with moderate-severe asthma.
Brigadoi G, Donà D, Boscarino G … +22 more , Masetti M, Antignani R, Barbieri E, Bignamini E, Campana B, Capello F, Carturan L, Ciardelli A, Colombo A, Cutrera R, Galante D, Guarini A, Malorgio E, Mandelli A, Moretti AM, Parri N, Sablone S, Terrasini N, Tosca M, La Grutta S, Esposito S, Pediatric Telemedicine Working Group
Ital J Pediatr · 2026 Apr · PMID 42045978 · Full text
BACKGROUND: Asthma is among the most common chronic childhood diseases, with inadequate control leading to substantial morbidity, impaired quality of life, and high healthcare costs. Although severe asthma affects only a...
BACKGROUND: Asthma is among the most common chronic childhood diseases, with inadequate control leading to substantial morbidity, impaired quality of life, and high healthcare costs. Although severe asthma affects only around 10% of pediatric patients, this subgroup bears a disproportionate share of the clinical and economic burden. Long-term disease control relies on regular monitoring and education, yet traditional follow-up in specialist outpatient clinics may not be sufficient. Advances in telemedicine and digital health offer new opportunities for remote monitoring, treatment adherence assessment, and patient education, but evidence for their use in moderate-to-severe pediatric asthma remains fragmented. METHODS: We systematically reviewed evidence on telemedicine and innovative technologies for moderate-to-severe asthma in children, adolescents, and young adults. Using GRADE, we assessed study quality and synthesized findings. A multidisciplinary panel applied a structured consensus process to develop tailored recommendations, considering evidence strength, feasibility, equity, resources, and patient preferences. RESULTS: Of the 27,551 records retrieved, 55 studies met the inclusion criteria (38 randomized controlled trials, 17 observational). Despite substantial heterogeneity in design, populations, and interventions, digital health tools—such as smartphone applications, online platforms, and remote monitoring devices—were generally feasible, well accepted, and often linked to improved quality of life, symptom control, treatment adherence, and reduced exacerbations and hospitalizations. Effects on pulmonary function were inconsistent. Increased healthcare contacts reported in some studies were interpreted by experts as earlier exacerbation recognition rather than clinical deterioration. Educational interventions via digital platforms were strongly valued by the panel, despite low-quality supporting evidence. Overall, evidence quality was limited by methodological weaknesses, varying outcome definitions, and heterogeneity in telemedicine tools, precluding meta-analysis. Sustainability challenges included costs, device access, provider workload, and the need for robust community-based care networks. Key barriers were unequal digital access, limited provider training, poor interoperability, and privacy concerns. CONCLUSION: Telemedicine may enhance adherence, empower self-management, and enable early detection of deterioration in moderate-to-severe pediatric asthma. Conditional recommendations were made for its use, particularly during exacerbations. Future high-quality studies with standardized outcomes, long-term follow-up, and economic analyses are needed to strengthen the evidence base and guide sustainable implementation.
Clinical characteristics and genetic analysis of patients with SCN1A gene pathological variant-related disorders: a single-center retrospective study.
He M, Min X, Shu J … +4 more , Wu B, Qi H, Wang X, Zhang G
Ital J Pediatr · 2026 Apr · PMID 42045956 · Full text
BACKGROUND: SCN1A Gene pathological variants can lead to a spectrum of epilepsy phenotypes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). As most pathological varian...
BACKGROUND: SCN1A Gene pathological variants can lead to a spectrum of epilepsy phenotypes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). As most pathological variants are de novo variants, early prediction of phenotypes and prognosis is challenging, and the genotype-phenotype correlation remains unclear. METHOD: We retrospectively analyzed the clinical and genetic data of 50 children with SCN1A variant-related epilepsy to explore the relationship between variant characteristics (location, in silico prediction scores), seizure characteristics, and phenotypes. RESULTS: This study included 50 children with SCN1A variant-related epilepsy, among whom 86.0% (43/50) had onset before the age of 1, 86.0% (43/50) exhibited fever sensitivity, and 68.0% (34/50) were accompanied by developmental delay; 36.0% (18/50) experienced status epilepticus(SE), 56.0% (28/50) had cluster seizures, and 48.0% (24/50) showed abnormal electroencephalogram(EEG) within one year of onset. Genetic analysis revealed that missense mutations accounted for 62.0% (31/50), with 78.0% (39/50) being de novo variants, and 24 previously unreported pathogenic variants were identified. The DS group (16 cases) had a significantly higher incidence of SE compared to the non-DS group (P = 0.041), while the non-DS group had a higher proportion of missense mutations (P = 0.014). Variant region analysis indicated that N-terminal variants were strongly associated with SE, and variants in the S2-S3/S3-S4 regions were prone to causing EEG abnormalities. In terms of treatment, the ketogenic diet was effective in 80.0% (4/5) of the children, while sodium channel blockers exacerbated seizures in 66.6% (4/6) of the children. CONCLUSION: The genotype-phenotype correlation in SCN1A-related epilepsy is crucial for early diagnosis and management: missense mutations are more prevalent in non-DS phenotypes, while DS phenotypes carry a higher risk of SE. Previously unreported variant sites expand the genetic spectrum. Ketogenic diet (KD) may be an effective treatment option, and the use of Sodium channel blocker(SCB) requires caution.
Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region.
Güner Özcanyüz D, GüL Mert G, Özcan N … +5 more , Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ
Ital J Pediatr · 2026 Apr · PMID 42036705 · Full text
BACKGROUND: Limb Girdle Muscular Dystrophy (LGMD) is a heterogeneous group of muscle diseases that are common in childhood. This study aimed to determine the clinical, histopathological, genetic features characteristics...
BACKGROUND: Limb Girdle Muscular Dystrophy (LGMD) is a heterogeneous group of muscle diseases that are common in childhood. This study aimed to determine the clinical, histopathological, genetic features characteristics of among pediatric patients with LGMD in the Çukurova region and to identify disease subgroups. METHODS: This study aimed to identify disease subgroups in the Çukurova region through a retrospective review of patients with LGMD, given differences in clinical indicators that can be used for early diagnosis and disease course as well as regional variations. Frequency and descriptive analyses were performed using SPSS 21 for Windows (IBM Corp., Armonk, NY, USA). RESULTS: The most common type identified at our center was LGMD2A-R1 (51.6%). The other types were LGMD2F-R6, LGMD2D-R3 and LGMD2C-R5, in order of frequency. Among these subtypes, the earliest age of onset and diagnosis as well as the highest creatine kinase values, were observed in the LGMD2C-R5 group. Respiratory failure was notably frequent in patients with LGMD2F-R6. Early ambulation loss was detected in patients with LGMD2F-R6 and LGMD2D-R3. Muscle biopsy was performed on 9 of the 16 patients with calpainopathy and 12 of the 15 patients with sarcoglycanopathy. The diagnosis of LGMD was confirmed by genetic testing in 25 of 31 patients. Previously unidentified 3 new mutations were detected in 4 patients. CONCLUSIONS: Early diagnosis and determination of LGMD subgroups are important for the investigation of targeted treatment options and the provision of genetic counseling in the future.
Therapeutic hypothermia in newborns: evidence-based guidelines from a systematic review.
Ancora G, Gallini F, Fumagalli M … +22 more , Cassano G, Paoletti V, Vivo M, Visintin G, Romeo DM, Cosmo L, Guidotti I, Rossi K, Sirgiovanni I, Ferrari F, Scoppa A, Vendemmia M, Bedetti L, Lugli L, Ramenghi L, Agosti M, Orfeo L, Mosca F, Facchinetti F, Bellù R, Cetin I, Cocchi E
Ital J Pediatr · 2026 Apr · PMID 42036677 · Full text
Hypoxic-ischemic encephalopathy represents a major cause of neonatal mortality and long-term neurodevelopmental impairment. Therapeutic hypothermia has become the standard of care, significantly improving survival and ou...
Hypoxic-ischemic encephalopathy represents a major cause of neonatal mortality and long-term neurodevelopmental impairment. Therapeutic hypothermia has become the standard of care, significantly improving survival and outcomes. Nevertheless, its clinical implementation often lacks a standardized operational framework to ensure consistent efficacy and safety. The present work aimed to develop GRADE-based operational guidelines for therapeutic hypothermia, offering neonatologists a structured approach for identifying, treating, and monitoring newborns throughout the procedure. A panel of experts appointed by the Italian Society of Neonatology conducted a systematic review (PROSPERO registration CRD420250651303) of randomized controlled trials evaluating the effects of therapeutic hypothermia on neurodevelopmental outcomes. Literature searches were performed across Medline, Cochrane, Scopus, Embase, and Web of Knowledge databases, and studies were assessed using the Cochrane Risk-of-Bias 2 tool. Recommendations were formulated through consensus meetings following GRADE methodology and subsequently validated by an external multidisciplinary panel. Eight randomized controlled trials, encompassing a total of 1,843 newborns, met the inclusion criteria. Based on a comprehensive evaluation of study indications, characteristics, and outcomes, evidence-based recommendations were established. The risk-of-bias assessment revealed an even distribution between studies categorized as low and moderate risk. The resulting guidelines present a structured protocol covering all phases of therapeutic hypothermia - timing, clinical setting, management, and follow-up - and include proposals for expanding its application. To facilitate clinical implementation, the guidelines are accompanied by summary tables, graphical flowcharts, and algorithms designed for immediate use in neonatal intensive care settings. The GRADE-based recommendations presented here, now adopted as the Italian national clinical guidelines for therapeutic hypothermia in newborns, provide an evidence-driven and standardized framework to optimize neonatal care. These guidelines are intended to support daily clinical decision-making and will undergo periodic updates to incorporate emerging evidence and maintain their clinical relevance.
COVID-19 infection is associated with anti-M alloantibody development in pediatric patients: immunological characteristics and clinical implications for transfusion safety.
Yin MW, Peng XQ, Ma JH … +5 more , Jiang GZ, Zhao N, Huang XY, Shi S, Chen XJ
Ital J Pediatr · 2026 Apr · PMID 42032654 · Full text
BACKGROUND: Anti-M antibodies are commonly observed as naturally occurring antibodies in the MNS blood group system, and their production has been linked to various microbial infections through molecular mimicry. However...
BACKGROUND: Anti-M antibodies are commonly observed as naturally occurring antibodies in the MNS blood group system, and their production has been linked to various microbial infections through molecular mimicry. However, the association between COVID-19 infection and anti-M antibody development in pediatric patients remains unexplored. METHODS: This retrospective matched case-control study included 31 anti-M positive pediatric patients and 31 matched anti-M negative controls with NN phenotype from October 2022 to May 2025. Anti-M isotypes (IgM/IgG) were distinguished using saline and dithiothreitol-preserved plasma methods, followed by titer determination and IgG subclass analysis. Plasma cytokines were quantified by flow cytometry. COVID-19 infection history within 2 years was recorded. RESULTS: Anti-M positive patients had significantly higher COVID-19 infection rates than controls (54.84% vs. 19.35%, OR = 5.06, P = 0.008); this association remained significant after adjustment for age and sex (adjusted OR = 5.35, 95% CI: 1.67–17.17, P = 0.005). Among those with IgG antibodies, anti-M IgG titers inversely correlated with the interval since COVID-19 infection (r = -0.63, P = 0.008). Reactive IgG (IgG1/IgG3) exhibited significantly higher titers than inactive IgG (median 64 vs. 4, P < 0.001), with all high-titer cases (≥ 64) exclusively in the reactive group (11/31, 35.48%). Anti-M positive patients showed elevated IL-8 (P = 0.006) and IL-12p70 (P = 0.029), and unexpectedly lower bilirubin levels (P < 0.01), suggesting metabolic adaptation rather than hemolysis. CONCLUSION: COVID-19 infection is significantly associated with anti-M alloantibody development in NN-phenotype children, with over one-third reaching clinically significant titers. These findings suggest that enhanced antibody screening should be considered for pediatric transfusion candidates with recent viral infections, although the single-center design with modest sample size (31 pairs) warrants multi-center validation.
Value of peripheral blood cell parameters and their derived ratios in predicting intravenous immunoglobulin resistance in Kawasaki disease.
Tang Q, Xu X, Gan C
Ital J Pediatr · 2026 Apr · PMID 42026620 · Full text
OBJECTIVE: Intravenous immunoglobulin (IVIG) serves as the first-line therapy for Kawasaki disease (KD); however, a significant minority of patients exhibit resistance to this treatment. Currently, there is a lack of eas...
OBJECTIVE: Intravenous immunoglobulin (IVIG) serves as the first-line therapy for Kawasaki disease (KD); however, a significant minority of patients exhibit resistance to this treatment. Currently, there is a lack of easily accessible and reliable predictors for IVIG resistance. This study systematically evaluates the utility of baseline peripheral blood cell counts and their ratios in predicting IVIG non-response. METHODS: We assembled a retrospective cohort from the Children’s Hospital of Chongqing Medical University, including all KD patients admitted between January 1, 2023, and June 30, 2025. Patients were classified as either IVIG-responsive or IVIG-resistant based on the resolution of fever following the initial IVIG treatment. We compared baseline demographics, laboratory data, and coronary artery lesion (CAL) status. Univariable analysis was conducted to identify factors associated with IVIG resistance, and receiver-operating characteristic (ROC) curves were utilized to quantify predictive performance. RESULTS: Among the 210 children diagnosed with KD, 15 (7.1%) were classified as IVIG-resistant, while 195 (92.9%) were responsive to treatment. No significant differences were observed in sex, age at onset, or the frequency of CAL between the two groups; however, the hospital length of stay was significantly longer in the resistant cases (P < 0.001). Prior to IVIG treatment, the resistant group exhibited elevated neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), monocyte-to-lymphocyte ratio (MLR), and systemic immune-inflammation index (SII) (P = 0.003, 0.001, 0.013, 0.029, respectively), alongside a lower absolute lymphocyte count (P < 0.001). ROC analysis revealed that NLR (AUC 0.733; cut-off 1.07; sensitivity 100%, specificity 84.6%) and PLR (AUC 0.766; cut-off 64.43; sensitivity 100%, specificity 84.1%) were the most robust pre-treatment predictors of IVIG resistance. Following IVIG administration, responsive patients demonstrated significant alterations in multiple cellular parameters, whereas resistant patients exhibited only minimal changes. The extent of change was markedly different between the groups, particularly for PLR: PLR decreased in resistant patients but increased in responders. The difference in PLR before and after infusion (ΔPLR) provided excellent discrimination (AUC 0.840; cut-off 81.77; sensitivity 93.3%, specificity 90.3%). CONCLUSIONS: Elevated baseline NLR, PLR, MLR, and SII are identified as risk factors for IVIG resistance in KD. NLR values exceeding 1.07 and PLR values greater than 64.43 demonstrate high predictive value. A decline in post-treatment PLR of ≥ 81.77 serves as an additional strong indicator of non-response to IVIG.
Mapping of pediatric allergy structures in Italy: a nationwide survey.
Dinardo G, Giovannini M, Galletta F … +7 more , Klain A, Filippo M, Indolfi C, Marseglia GL, Del Giudice MM, Manti S, Regional Representatives of the Italian Society of Pediatric Allergy, Immunology (SIAIP)
Ital J Pediatr · 2026 Apr · PMID 42021396 · Full text
BACKGROUND: Pediatric allergology and immunology has expanded markedly over recent decades, paralleling the rising prevalence of allergic diseases. National data on the availability and organization of dedicated services...
BACKGROUND: Pediatric allergology and immunology has expanded markedly over recent decades, paralleling the rising prevalence of allergic diseases. National data on the availability and organization of dedicated services in Italy are lacking. This project aimed to provide the first nationwide mapping of Italian Society of Pediatric Allergy and Immunology (SIAIP)-affiliated pediatric allergology and immunology structures, describing their geographical distribution and main organizational features of service delivery. METHODS: Between 2023 and 2025, a structured nationwide mapping was conducted by regional SIAIP representatives. Data referred to the years 2024–2025 and included geographic location, weekly clinical activity, patient contact modalities (telephone and e-mail), and availability of digital services such as telemedicine. Data were summarized using descriptive statistics and reported as frequencies and percentages. RESULTS: A total of 188 pediatric allergology and immunology territorial structures were identified across Italy. Their distribution was uneven: 86 were located in Northern Italy (45.7%), 42 in Central Italy (22.3%), and 60 in Southern Italy and the Islands (31.9%), highlighting marked regional heterogeneity. Clinical activity was frequently limited, with many structures operating only one to two days per week. Communication pathways were variable and often restricted to scheduled hours or mediated by booking services. Direct clinician contact was inconsistently available. Telemedicine and digital follow-up services were rarely implemented, indicating limited integration of remote care in routine practice. CONCLUSIONS: The Italian pediatric allergology network shows important structural limitations, including regional disparities, reduced service availability, and minimal integration of telemedicine. These findings provide a framework for healthcare planning and underline the urgency of strengthening workforce organization, service capacity, and digital health implementation.
Münchausen syndrome by proxy: a literary review and a reminder for every health care professional.
Giliberti A, Giustiniano S, Carbonaro Y … +3 more , Frisina AM, Roccella M, Nardello R
Ital J Pediatr · 2026 Apr · PMID 41998660 · Full text
Münchhausen syndrome by proxy (MBPS), also commonly referred to as Medical Child Abuse (MCA), and now officially classified in the DSM-5-TR as Factitious Disorder Imposed on Another (FDIOA), is a severe condition that in...
Münchhausen syndrome by proxy (MBPS), also commonly referred to as Medical Child Abuse (MCA), and now officially classified in the DSM-5-TR as Factitious Disorder Imposed on Another (FDIOA), is a severe condition that involves a caregiver who fabricates or induces signs and symptoms of physical, psychiatric, or developmental disorders in a child or other dependent victim. The primary motivation is the achievement of psychological gain—such as attention and sympathy—rather than obvious external benefits. Unfortunately this is frequently observed by health teams in clinics, hospital wards and emergency rooms and undoubtedly, these conditions generate high costs and unnecessary procedures in health care facilities and sometimes can evolve into the death of the child, depending on the gravity of the illness or the abuse. It is important for both physical and mental health of the children to diagnose as soon as possible this disorder and that’s why our team decided to write this review, in order to provide a complete and updated manuscript about such often misdiagnosed pathology so dangerous for children.
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