Italian Journal of Pediatrics最新文献

{"title":"When infection hurts: golden rules for managing pediatric skin and soft tissue infections.","authors":"Giangiacomo Nicolini, Valentina Frasca Polara, Matteo Calvi, Marc García-Lorenzo, Miriam Massese, Gregorio Paolo Milani, Roberta Parrino, Enrico Vidal, Claudia Colomba","doi":"10.1186/s13052-025-01994-w","DOIUrl":"10.1186/s13052-025-01994-w","url":null,"abstract":"<p><p>Skin and Soft Tissue Infections (SSTIs) are common in pediatric patients, accounting for nearly 25% of clinical visits. These infections can range from mild to life-threatening and include a severe subset known as Acute Bacterial Skin and Skin Structure Infections (ABSSSI). Prompt diagnosis and appropriate antibiotic use are crucial for optimizing patient outcomes while minimizing adverse effects and antimicrobial resistance. However, empirical treatment often becomes necessary due to the lack of culture specimens, making local epidemiology and clinical presentation key factors in treatment decisions. This expert opinion paper aims to outline the \"golden rules\" for the management of SSTIs in children, focusing on achieving microbiological clearance, clinical improvement, and effective control of symptoms, such as fever and pain, which significantly impact the child's well-being. These emphasize the principles of antimicrobial stewardship, recommending early diagnosis with appropriate laboratory tests, rational empiric therapy, and prompt switch to targeted therapy based on microbiological findings, as well as proper fever and pain management. The paper also highlights the importance of a multidisciplinary approach for complex cases, optimal dosing, and effective communication with patients' families to improve treatment compliance. Furthermore, antibiotic therapy should be selected to reduce hospital stay and facilitate home-based continuity of care, while follow-up and strengthening of the hospital-territory network are critical for continuity of care after discharge. These recommendations aim to optimize the management of pediatric SSTIs by ensuring comprehensive care from initial diagnosis to post-discharge follow-up, promoting the rational use of antibiotics, and ultimately improving clinical outcomes and quality of life for children and their families.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"194"},"PeriodicalIF":3.2,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316926","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":"Neonatal hereditary spherocytosis: a case report.","authors":"Carolina Coramusi, Natalia Lucangeli, Sarah Vadalà, Pasquale Parisi, Maria Eleonora Scapillati","doi":"10.1186/s13052-025-02049-w","DOIUrl":"10.1186/s13052-025-02049-w","url":null,"abstract":"<p><strong>Background: </strong>Hereditary spherocytosis is a genetic disorder affecting red blood cell membranes, leading to increased destruction and haemolysis. In neonates, it ranges from asymptomatic to severe cases with anaemia, jaundice, and spleen issues. Early diagnosis through clinical, laboratory, and genetic tests is vital for prognosis. This clinical case is presented due to the rarity of neonatal-onset spherocytosis, providing an opportunity for a literature review.</p><p><strong>Case presentation: </strong>A full-term baby was born via vaginal delivery with a family history of hereditary spherocytosis. The patient was discharged without complications but was later hospitalized for an unrelated issue, during which haemolytic anemia was detected, leading to the beginning of the diagnostic process and subsequent onset of appropriate therapy with a positive outcome.</p><p><strong>Conclusions: </strong>In cases of neonates with jaundice or anemia, it is crucial to consider neonatal spherocytosis among the differential diagnoses, as early diagnosis allows for appropriate therapy and enables the patient to maintain a normal quality of life.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"193"},"PeriodicalIF":3.2,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316925","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":"The dysregulation and regulatory mechanism of long non-coding RNA LBX2-AS1 in children with epilepsy.","authors":"Qian Li, Ning Li","doi":"10.1186/s13052-025-02045-0","DOIUrl":"10.1186/s13052-025-02045-0","url":null,"abstract":"<p><strong>Background: </strong>Epilepsy is a long-lasting neurological condition distinguished by recurring seizures, and related to oxidative stress and inflammation. This study investigates the effects of long non-coding RNA LBX2-AS1 on childhood epilepsy.</p><p><strong>Methods: </strong>There were 165 epilepsy epileptic and 206 healthy children enrolled in this study. Relative LBX2-AS1, miR-873-5p, and HNRNPK expression levels were assessed using RT-PCR. Diagnostic value of LBX2-AS1 was evaluated by ROC curve. Epilepsy cell model was constructed in HT22 cells. Cell viability was assessed by CCK-8 kit. Cell apoptosis was analyzed by flow cytometer. Oxidative stress factors (SOD, GSH, LDH) and inflammatory cytokines (IL-1β, IL-6, TNF-α) were evaluated by ELISA kits. Target association was validated using dual-luciferase reporter assays. Function analysis for miR-873-5p target genes was analyzed by GO, KEGG, and PPI.</p><p><strong>Results: </strong>LBX2-AS1 was upregulated in epilepsy and had a high diagnostic value for epilepsy (AUC = 0.880, sensitivity = 80.6%, specificity = 82.0%, cutoff value = 1.14). The upregulation of LBX2-AS1 in cell model might decrease cell viability, increase apoptosis, and elevate oxidative stress and inflammation via negatively controlled miR-873-5p. Target genes of miR-873-5p were enriched in pathways related to oxidative stress, inflammation responses, and magnesium ion transmembrane transporter activity of neuronal cells. HNRNPK had the highest interaction degree with other target genes.</p><p><strong>Conclusion: </strong>LBX2-AS1 is upregulated in epilepsy and is associated with increased oxidative stress, inflammation, and apoptosis via mediating miR-873-5p/HNRNPK axis in epilepsy cell model.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"189"},"PeriodicalIF":3.2,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12168281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302076","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":"Clinical features and outcomes in pediatric patients with cortical laminar necrosis: a single-center retrospective study.","authors":"Zhanwei Zhang, Zou Pan, Lifen Yang, Fang He, Fangyun Liu, Jing Peng","doi":"10.1186/s13052-025-02038-z","DOIUrl":"10.1186/s13052-025-02038-z","url":null,"abstract":"<p><strong>Background: </strong>Cortical laminar necrosis (CLN) is a selective cortical necrosis primarily involving layer 3 of the cortex. Its causes, clinical features, and outcomes in pediatric patients remain unclear due to limited cases.</p><p><strong>Methods: </strong>Pediatric CLN patients from Xiangya Hospital from January 2014 to December 2024 were enrolled. Clinical data, brain magnetic resonance imaging (MRI), and Modified Rankin Scale (mRS) for neurological outcomes were analyzed.</p><p><strong>Results: </strong>Among 59 enrolled patients, causes included hypoxic-ischemic encephalopathy (HIE), hereditary and metabolic, infectious, vascular, and trauma. Seizures and consciousness changes were common symptoms. Infectious and hereditary and metabolic causes were linked to status epilepticus (P < 0.001), while vascular causes were associated with hemiplegia (P < 0.001). HIE patients had poorer prognosis (P = 0.038). MRI showed earlier hyperintensity on diffusion weighted imaging (DWI) than enhancement in T1 contrasted sequence, as well as T1 sequence and fluid attenuated inversion recovery (FLAIR). Bilateral involvement was seen in all HIE cases, while hereditary and metabolic causes often showed unilateral involvement (P < 0.001). Frontal lobe involvement was common in vascular and trauma cases (P = 0.017), and all patients with HIE exhibited involvement in the parietal and occipital lobes. While infectious cases frequently involved the insular and temporal lobes, most patients exhibited brain atrophy/encephalomalacia at follow-up. Three patients showed new CLN and two patients exhibited persistent CLN during MRI follow-up.</p><p><strong>Conclusion: </strong>HIE, hereditary/metabolic, infectious, vascular, and trauma are the main causes of pediatric CLN, with distinct clinical features and outcomes.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"188"},"PeriodicalIF":3.2,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12168347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302064","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":"Optimizing antimicrobial routes: risk factor analysis for intravenous therapy in children with preseptal orbital cellulitis.","authors":"Roberto Privato, Emanuela Inserra, Francesco Pezzoli, Alessia Nucci, Stefano Masi, Elena Chiappini, Giuseppe Indolfi, Sandra Trapani, Luisa Galli, Elisabetta Venturini","doi":"10.1186/s13052-025-01931-x","DOIUrl":"10.1186/s13052-025-01931-x","url":null,"abstract":"<p><strong>Background: </strong>The optimal route of antimicrobial administration for preseptal orbital cellulitis (OC) in children remains uncertain. While mild cases may be managed with oral therapy, distinguishing between mild and severe presentations is challenging. The recently proposed ASSET score offers a tool for assessing the severity of skin and soft tissue infections, but prospective validation in large cohorts of preseptal OC is lacking. As a result, most patients with periorbital infections are admitted for intravenous (IV) antibiotics. This study aims to identify clinical and laboratory features predictive of severe preseptal OC requiring IV treatment.</p><p><strong>Methods: </strong>A retrospective study was conducted at Meyer Children's Hospital IRCCS, Florence, reviewing outpatient records for OC cases from January 2017 to June 2024. Data on age, sex, clinical presentation, blood tests, and management were collected.</p><p><strong>Results: </strong>Previously initiated oral therapy was associated with the need for IV therapy (p < 0.001), as well as the presence of fever (p < 0.001), and severe eyelid swelling (p < 0.001). The median ASSET score was higher in patients with preseptal OC requiring IV therapy (p < 0.001). Differences in laboratory findings were noted between children with preseptal OC managed with and without IV antibiotics.</p><p><strong>Conclusions: </strong>Previous trials of oral antibiotics, systemic features, and severe swelling influence clinicians' decisions to initiate IV antibiotics in preseptal OC. If validated for preseptal OC, the application of the ASSET score could significantly reduce the number of children treated with IV antibiotics. Ancillary blood tests may be useful for detecting preseptal OC requiring IV treatment.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"190"},"PeriodicalIF":3.2,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12168378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302065","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":"POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.","authors":"Caterina Angela Florio, Federica Mirabella, Adriana Prato, Andrea Longhitano, Rita Barone, Renata Rizzo","doi":"10.1186/s13052-025-02024-5","DOIUrl":"10.1186/s13052-025-02024-5","url":null,"abstract":"<p><strong>Background: </strong>Recessive mutations in POLR3A exhibit considerable phenotypic diversity, spanning from severe childhood-onset hypomyelinating leukodystrophic syndrome to less severe gait disorders, which may present later in life and may be accompanied by additional non-neurological symptoms. In this study, we report a new case of rare POLR3A variants in a 6-year-old female patient sharing common genetic and neuropsychological profiles of POLR3-related disorders, although without revealing the classic MRI phenotype and severe clinical signs of POLR3-related leukodystrophy, such as diffuse hypomyelination.</p><p><strong>Case presentation: </strong>Our probe was born after full term pregnancy complicated by Intrauterine Growth Restriction and risk of preterm birth treated with tocolytics during the last weeks of pregnancy. On the second day of life, tremors in the lower and upper limbs were detected and lasted until the second month of life. At the age of 6 months, she was diagnosed with hypotonia. The child showed a delay in the stages of psychomotor development and a slowing of the language. Brain MRI performed at the age of 5 years revealed mild and symmetrical ectasia of the lateral ventricles, mild hypoplasia of the cerebellar vermis and brainstem with wide communication between the fourth ventricle and the cisterna magna. Neurological examination revealed dyslalia, mild generalized hypotonia, ataxic gait, motor coordination and balance deficits, while the Wechsler Intelligence Scale for Children revealed the presence of mild intellectual disability. A clinical exome and neurodevelopmental multigenic analysis revealed two variants of the POLR3A gene in compound heterozygosity (c.1795 C > A and c.1289 + 3 A > G) previously described in the literature and a novel and not yet reported CACNA2D2 variant (c.2929 C > T).</p><p><strong>Conclusions: </strong>Beside the shared genetic and neuropsychological findings, the distinctive MRI and classical clinical signs of POLR3-related leukodystrophy have not been revealed in our case. This finding underscores the need to expand the diagnostic approach for POLR3A-related disorders, highlighting the significance of differentiating subtle clinical signs and promoting the use of genetic testing, especially in younger patients who may not yet display the typical clinical and MRI patterns. Further studies are necessary to shed light on different pathogenic mechanisms potentially responsible for the heterogeneous phenotype associated with POLR3-related disorders.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"191"},"PeriodicalIF":3.2,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12168332/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302066","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":"The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.","authors":"Mahmoud M Noureldeen, Maha S Zaki, Karima Rafat, Mohamed S Abdel-Hamid, Aida M S Salem","doi":"10.1186/s13052-025-02031-6","DOIUrl":"10.1186/s13052-025-02031-6","url":null,"abstract":"<p><strong>Background: </strong>Leukodystrophies (LDs) and genetic leukoencephalopathies (GLEs) encompass the spectrum of genetic white matter disorders (GWMDs). Despite their clinical significance, limited studies have investigated GWMDs in Egypt. Therefore, this study aimed to characterize pediatric patients diagnosed with GWMDs in the Beni-Suef Governorate, Upper Egypt.</p><p><strong>Methods: </strong>We reviewed the records of patients diagnosed with GWMDs who presented over five years to the pediatric neurology clinic of a tertiary care hospital in Beni-Suef Governorate, Upper Egypt. The study included 142 patients aged < 18 years diagnosed with GWMD confirmed by brain imaging, metabolic, and/or molecular genetic testing. Patients were classified as LDs or GLEs per the 2015 Global Leukodystrophy Initiative Consortium (GLIA) criteria.</p><p><strong>Results: </strong>Fifty-six cases were identified to have LDs, while 86 were classified as GLEs. Metachromatic leukodystrophy (MLD) was the most common LD (13 patients), followed by megalencephalic leukoencephalopathy with subcortical cysts (MLC) (10 patients). The most common GLEs were lysosomal storage disorders (LSDs) (22 patients,) followed by Cockayne syndrome (11 patients), along with other miscellaneous disorders. The cumulative incidence of GWMDs in children under 18 was estimated at 10.8 cases per 100,000 population during the five-year study period. Thirty-one novel variants were identified, comprising 10 for LDs and 21 for GLEs. The mortality rate was 39.3% and 22.1% among patients with LDs and GLEs, respectively.</p><p><strong>Conclusions: </strong>This study presents the first cohort of GWMDs reported from the Beni-Suef Governorate, Upper Egypt. The study provides significant data regarding regional etiological patterns, clinical trajectories, and molecular profiles. Additionally, the study findings provide a foundational framework for establishing a national GWMD registry and inform future diagnostic and therapeutic strategies.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"187"},"PeriodicalIF":3.2,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12166611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293679","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 comprehensive benchmark of very preterm and extremely preterm infant care in Shenzhen: insights from the triple aim framework.","authors":"Lu Ding, Jinjie Huang, Xudong Yan, Guichao Zhong, Zhangbin Yu, Dong Liu, Benqing Wu","doi":"10.1186/s13052-025-02043-2","DOIUrl":"10.1186/s13052-025-02043-2","url":null,"abstract":"<p><strong>Background: </strong>To assess the baseline level of care for very preterm (VPI) and extremely preterm infants (EPI) in Shenzhen using the Triple Aim framework.</p><p><strong>Methods: </strong>This retrospective analysis utilized data from the Shenzhen Neonatal Data Network (SNDN) for 2022-2023. We assessed mortality rate, major morbidity rate, benefit metric (a risk-adjusted composite morbidity index), and per capita costs.</p><p><strong>Results: </strong>The study included 995 infants from 11 NICUs in the SNDN, with an overall mortality rate of 7.5%. The rates for the eight major morbidities were: bronchopulmonary dysplasia 22.6%, grade III-IV intraventricular hemorrhage 5.2%, periventricular leukomalacia 2.2%, stage II-III necrotizing enterocolitis 3.9%, focal intestinal perforation 0.8%, stage 3-5 retinopathy of prematurity 3.8%, discharge weight < 10th percentile 12.1%, and late-onset infections 9.4%. The benefit metric ranged from 0.7 to 3.3, with per capita costs between $212.3 and $342.4.</p><p><strong>Conclusion: </strong>This study provides baseline data on NICU preterm infant management in Shenzhen using the Triple Aim framework, highlights areas for quality improvement.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"186"},"PeriodicalIF":3.2,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12150589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266227","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":"Citrobacter and Acinetobacter are respectively involved in feeding intolerance in preterm infants of different gestational ages: a prospective case-control study.","authors":"Chunyan Fu, Jinglin Xu, He Wang, Dongmei Chen, Zhiyong Liu","doi":"10.1186/s13052-025-02034-3","DOIUrl":"10.1186/s13052-025-02034-3","url":null,"abstract":"<p><strong>Background: </strong>Feeding intolerance (FI) is a common feeding problem in preterm infants. The gut microbiota contributes significantly to its onset, progression, and outcome. In this study, we aimed to understand the differences in gut microbiota among preterm infants with FI of different gestational ages. The goal was to provide a basis for early probiotic intervention.</p><p><strong>Methods: </strong>We undertook a prospective case-control study in which we enrolled 80 preterm infants at a gestational age < 34 weeks. Participants were divided into four groups of 20 each: early preterm infants with FI (EFI group, gestational age < 32 weeks), early preterm infants with feeding tolerance (FT) (EFT group, gestational age < 32 weeks), moderate preterm infants with FI (MFI group, gestational age ≥ 32 weeks), moderate preterm infants with FT (MFT group, gestational age ≥ 32 weeks). 16 S rDNA high-throughput sequencing was employed to analyze the infants' fecal microbiota and examine the potential link between gut microbiota and gestational age. Statistical analysis was conducted for the collected data. The Statistical Package for Social Sciences software was used. T-tests or non-parametric tests were performed for comparison between groups of measurement data, and the χ2 test was used to compare between groups of count data. At the genus and species level, the potential association between intestinal microbiota and FI and the relationship with gestational age were explored.</p><p><strong>Results: </strong>The abundance of Citrobacter in the feces of the EFI group was significantly higher than that in the EFT group. Additionally, the abundance of Acinetobacter in the MFI group was significantly higher than that in the MFT group. The abundance of Clostridium XI was significantly low in the MFT group.</p><p><strong>Conclusions: </strong>Citrobacter and Acinetobacter genera are implicated in FI in preterm infants with gestational ages < 32 weeks and ≥ 32 weeks, respectively. However, Clostridium XI may be involved in regulating intestinal homeostasis in those with a gestational age ≥ 32 weeks.</p><p><strong>Trial registration: </strong>ChiCTR, ChiCTR2400086000. Registered 24 June 2024, https://www.chictr.org.cn/showprojEN.html?proj=210,126 .</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"184"},"PeriodicalIF":3.2,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12150512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144258060","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":"Interpretable web-based machine learning model for predicting intravenous immunoglobulin resistance in Kawasaki disease.","authors":"Ying He, Fan Lin, Xin Zheng, Qiaobin Chen, Meng Xiao, Xiaoting Lin, Hongbiao Huang","doi":"10.1186/s13052-025-02036-1","DOIUrl":"10.1186/s13052-025-02036-1","url":null,"abstract":"<p><strong>Background: </strong>Kawasaki disease (KD) is a leading cause of acquired heart disease in children that is treated with intravenous immunoglobulin (IVIG). However, 10-20% of cases exhibit IVIG resistance, which increases the risk of coronary complications. Existing predictive models do not integrate multiple machine learning (ML) algorithms or facilitate real-time clinical use. This study presents a region-specific, interpretable ML model for early IVIG resistance prediction in KD.</p><p><strong>Methods: </strong>A retrospective cohort of 463 children diagnosed with KD at Fuzhou University Affiliated Provincial Hospital (2012-2024) was analyzed. Thirteen ML algorithms were evaluated via cross-validation, with performance assessed by AUC and other metrics. Feature importance was determined using SHapley Additive exPlanations (SHAP), and risk of bias was evaluated using the Prediction Model Risk of Bias Assessment Tool.</p><p><strong>Results: </strong>The random forest (RF) model demonstrated the highest predictive performance (AUC = 0.78). After feature selection based on SHAP values, a final interpretable RF model incorporating 10 key features was developed, and a web-based tool integrating the Youden index (16.9%) was deployed for real-time risk estimation.</p><p><strong>Conclusion: </strong>This region-specific, interpretable ML model ( https://milailai.shinyapps.io/data1/ ) is a practical tool for early risk stratification and personalized treatment of IVIG resistance in KD.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"181"},"PeriodicalIF":3.2,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12147252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247779","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}