Martina Piersanti, Federica Ferrari, Marisa Piccirillo, Rino Agostiniani, Marta Zerunian, Damiano Caruso, Fortunata Civitelli, Marco Graziani, Pasquale Parisi, Elisabetta Cortis, Giovanni Di Nardo, Maurizio Mennini
{"title":"Ultrasound elastography in pediatric care: bridging innovation and noninvasive diagnostics.","authors":"Martina Piersanti, Federica Ferrari, Marisa Piccirillo, Rino Agostiniani, Marta Zerunian, Damiano Caruso, Fortunata Civitelli, Marco Graziani, Pasquale Parisi, Elisabetta Cortis, Giovanni Di Nardo, Maurizio Mennini","doi":"10.1186/s13052-026-02279-6","DOIUrl":"10.1186/s13052-026-02279-6","url":null,"abstract":"<p><p>This review explores the application and limitations of ultrasound elastography (USE) in the pediatric population, addressing its diagnostic value across different organs and suggesting future directions for research and clinical practice. A literature review was conducted using PubMed to identify studies published between 2010 and 2025 that examined USE applications in children. The search focused on studies assessing the liver, kidney, bowel, pancreas, muscle, connective tissue, and lung. The review highlights the established clinical application of USE in the assessment of liver fibrosis. It also provides an overview of new potential applications in kidney diseases, inflammatory bowel disease, cystic fibrosis, and muscle disorders. Two-dimensional shear wave elastography (2D-SWE) demonstrates excellent diagnostic accuracy in liver disease. However, in kidney applications, variability in results and the lack of standardized protocols limit clinical utility. SWE has shown promise in in the early detection of pancreatic insufficiency and muscle stiffness in cerebral palsy. Emerging applications include monitoring lung fibrosis and assessing fetal lung development. Despite its advantages-being noninvasive, repeatable, and well tolerated-USE remains limited by operator dependency, lack of standardization, and poor reproducibility in specific organs remain a major challenge. USE demonstrates significant potential for noninvasive diagnostics in pediatric care, especially in reducing invasive procedures and improving patient follow-up. However, further studies are needed to establish standardized protocols, reliable cut-off values, and broader applications across different organ systems. Integration of USE with other imaging modalities and utilizing advancements in artificial intelligence may enhance its diagnostic yield.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13445802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148149956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Velia Chiara Di Maio, Rossana Scutari, Stefania Ranno, Luana Coltella, Venere Cortazzo, Luna Colagrossi, Anna Chiara Vittucci, Livia Antilici, Giulia Linardos, Alessandra Salvatori, Leonarda Gentile, Manuela Onori, Barbara Lucignano, Gianluca Vrenna, Mara Pisani, Sebastian Cristaldi, Massimiliano Raponi, Cristina Russo, Paola Bernaschi, Alberto Villani, Carlo Federico Perno
{"title":"Early and high Influenza A circulation alongside reduced Respiratory Syncytial Virus prevalence during autumn 2025 in paediatric patients attending emergency department.","authors":"Velia Chiara Di Maio, Rossana Scutari, Stefania Ranno, Luana Coltella, Venere Cortazzo, Luna Colagrossi, Anna Chiara Vittucci, Livia Antilici, Giulia Linardos, Alessandra Salvatori, Leonarda Gentile, Manuela Onori, Barbara Lucignano, Gianluca Vrenna, Mara Pisani, Sebastian Cristaldi, Massimiliano Raponi, Cristina Russo, Paola Bernaschi, Alberto Villani, Carlo Federico Perno","doi":"10.1186/s13052-026-02285-8","DOIUrl":"10.1186/s13052-026-02285-8","url":null,"abstract":"<p><p>The recent implementation of preventive strategies against Respiratory Syncytial Virus (RSV) in infants has raised questions about potential changes in RSV seasonality and the circulation of other respiratory viruses. This study aimed to compare respiratory virus activity among paediatric patients presenting to the Bambino Gesù Children's Hospital (Rome, Italy), with respiratory symptoms and available BioFire Respiratory Panel 2.1 plus results during September-December 2024 (N = 670) and 2025 (N = 905). RSV detection decreased significantly in December 2025 compared with the same period in 2024 (6.3% vs 29.4%, risk ratio [RR]: 0.21, 95% confidence interval [CI] 0.16-0.28; p < 0.001). By contrast, influenza A viruses had an earlier onset in 2025 and emerged as the dominant pathogen compared with 2024 (21.0%, in 2025 vs 4.5%, in 2024; RR: 4.69, 95% CI 3.23-6.80; p < 0.001). Unlike September-December 2024, parainfluenza viruses (PIVs) 3 and 4 circulated in 2025 (0.4% vs 3.5% for PIV 3; 0.0% vs 3.6% for PIV-4; p < 0.001 for both), mainly observed in infants (median age 0.7 years; interquartile range: 0.2-1.2; mean±standard deviation: 0.9 ± 0.8). Circulation of adenovirus (11.5%, vs 6.1%; p < 0.001) and human coronavirus HKU1 (3.6%, vs 0.1%; p < 0.001) also increased in 2025 compared with 2024. The observed epidemiological shifts suggest potential effects associated with the introduction of RSV prophylaxis in Italy and highlight the importance of continued paediatric surveillance in monitoring evolving viral patterns and guiding public health decisions.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"52 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13227826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148143530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes.","authors":"Arzu Selamioğlu, Melda İdrisoğlu, Şebnem Kılıç, Dilek Güneş, Meryem Karaca, Mehmet Cihan Balcı, Nafiye Emel Çakar, Fatmahan Atalar, Asuman Gedikbaşı, Gülden Gökçay","doi":"10.1186/s13052-026-02284-9","DOIUrl":"10.1186/s13052-026-02284-9","url":null,"abstract":"<p><strong>Background: </strong>Glutaric acidemia type 1 (GA1) is a rare but treatable autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the GCDH gene. In the absence of newborn screening (NBS), diagnosis often occurs after irreversible neurological injury.</p><p><strong>Methods: </strong>This retrospective, descriptive, cross-sectional study included 50 patients with biochemically and/or genetically confirmed GA1 from two tertiary centers in Turkey, where GA1 is not part of the national NBS program. Demographic, clinical, biochemical, neuroimaging, and molecular genetic data were collected from medical records. Motor and communication functions were evaluated using the Gross Motor Function Classification System (GMFCS) and the Communication Function Classification System (CFCS).</p><p><strong>Results: </strong>The cohort comprised 29 males (58%) and 21 females (42%) from 42 unrelated families, with parental consanguinity present in 78%. Median age at diagnosis was 10 months (range: 3 months-17 years). Most patients presented with the acute-onset type (66%), followed by the insidious-onset type (34%). Encephalopathic crises occurred in 66% of patients, with gastroenteritis and respiratory infections being the most common precipitating factors. Severe motor (GMFCS level 5: 61.5%) and communication (CFCS level 5: 30.8%) impairments were frequent. Neuroimaging revealed basal ganglia involvement in 86.1% and frontotemporal atrophy in 72.2% of patients. Biochemically, 70% were high excretors, and secondary carnitine deficiency was common (84.6%). Genetic analysis (n = 29) identified 15 pathogenic/likely pathogenic GCDH variants, with c.743 C > T (p.Pro248Leu) being the most frequent variant (34.4%), suggesting a founder effect. Twelve patients (24%) died during follow-up (median age: 6.2 years).</p><p><strong>Conclusions: </strong>In this large Turkish GA1 cohort diagnosed outside NBS, delayed diagnosis was associated with severe and irreversible neurological sequelae, high mortality, and multisystem complications. Our findings strongly support the urgent inclusion of GA1 in national NBS programs, especially in high-consanguinity populations, alongside structured lifelong management strategies to improve long-term outcomes.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13404439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lorenzo Chiusaroli, Emelyne Gres, Claudia Cozzolino Cangiano, Anna Cantarutti, Daniele Donà, Carlo Giaquinto, Vincenzo Baldo, Elisa Barbieri
{"title":"Burden of non-invasive fungal infections and antifungal therapy in pediatric primary care settings: FUNGICARE Project.","authors":"Lorenzo Chiusaroli, Emelyne Gres, Claudia Cozzolino Cangiano, Anna Cantarutti, Daniele Donà, Carlo Giaquinto, Vincenzo Baldo, Elisa Barbieri","doi":"10.1186/s13052-026-02277-8","DOIUrl":"10.1186/s13052-026-02277-8","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13393752/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148030528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Antonio Corsello, Maria Elisa Di Cicco, Laura Reali, Michele Ghezzi, Laura Venditto, Valentina Agnese Ferraro, Mattia Spatuzzo, Rino Agostiniani, Luciana Indinnimeo, Stefania La Grutta
{"title":"Smoking cessation in adolescents and effective strategies: a position paper.","authors":"Antonio Corsello, Maria Elisa Di Cicco, Laura Reali, Michele Ghezzi, Laura Venditto, Valentina Agnese Ferraro, Mattia Spatuzzo, Rino Agostiniani, Luciana Indinnimeo, Stefania La Grutta","doi":"10.1186/s13052-026-02281-y","DOIUrl":"10.1186/s13052-026-02281-y","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13393685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148015383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fulvio Celsi, Luisa Zupin, Francesca Senn, Pio d'Adamo, Stefania Cappellani, Lucia De Zen, Giorgio Cozzi, Angelo Selicorni, Egidio Barbi, Francesca Peri
{"title":"Identification of a different DNA methylation pattern for pain related genes in children with intellectual disability: a cross-sectional study.","authors":"Fulvio Celsi, Luisa Zupin, Francesca Senn, Pio d'Adamo, Stefania Cappellani, Lucia De Zen, Giorgio Cozzi, Angelo Selicorni, Egidio Barbi, Francesca Peri","doi":"10.1186/s13052-026-02274-x","DOIUrl":"10.1186/s13052-026-02274-x","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13353001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147972620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Riccardo Davanzo, Guglielmo Salvatori, Maria Elisabetta Baldassarre, Luigi Gagliardi, Elsa Viora, Elena Scarpato, Massimo Agosti
{"title":"The hospital policy on breastfeeding project to promote breastfeeding in Italy: not so ambitious, still effective.","authors":"Riccardo Davanzo, Guglielmo Salvatori, Maria Elisabetta Baldassarre, Luigi Gagliardi, Elsa Viora, Elena Scarpato, Massimo Agosti","doi":"10.1186/s13052-026-02249-y","DOIUrl":"10.1186/s13052-026-02249-y","url":null,"abstract":"<p><strong>Background: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13445820/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147929474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A new 308 A-G substitution in HBG2 in an acyanotic newborn: case report.","authors":"Stefano Pellicani, Manuela Capozza, Immacolata Andolfo, Roberta Russo, Achille Iolascon, Nicola Laforgia","doi":"10.1186/s13052-026-02275-w","DOIUrl":"10.1186/s13052-026-02275-w","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13330331/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147874289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hemodynamic effects of high frequency oscillatory ventilation versus conventional mechanical ventilation in term neonates with persistent pulmonary hypertension: a single-center randomized trial.","authors":"Doaa El Amrousy, Hassan Koura, Noura Abdou, Mostafa Awny, Abdelrahman Elmashad","doi":"10.1186/s13052-026-02272-z","DOIUrl":"10.1186/s13052-026-02272-z","url":null,"abstract":"<p><strong>Background: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>HFOV and CMV have positive comparable effects on hemodynamics in full-term neonates with PPH.</p><p><strong>Clinical trial registration: </strong>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 ).</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"52 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13162449/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147873874","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yan Zhang, Zi Lin, Hui Niu, Yinghao Wang, Xiangqian Jin, Lihua Tang, Haifeng Hou, Cancan Li
{"title":"The association between plasma IgG N-glycosylation and viral encephalitis in children: a hospital-based case-control study.","authors":"Yan Zhang, Zi Lin, Hui Niu, Yinghao Wang, Xiangqian Jin, Lihua Tang, Haifeng Hou, Cancan Li","doi":"10.1186/s13052-026-02273-y","DOIUrl":"10.1186/s13052-026-02273-y","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13325588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147864052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}