Italian Journal of Pediatrics最新文献

{"title":"A clinical prediction model for rapidly differentiating pulmonary tuberculosis from community acquired pneumonia in children.","authors":"Chunjiao Han, Yulian Fang, Lili Dong, Min Lei, Mengzhu Hou, Lu Wang, Wei Guo, Chunquan Cai","doi":"10.1186/s13052-025-02118-0","DOIUrl":"10.1186/s13052-025-02118-0","url":null,"abstract":"<p><strong>Background: </strong>Due to the non-specific symptoms of pulmonary tuberculosis (PTB) in children, the diagnosis of PTB in children is a major challenge for clinicians in the absence of microbiological confirmation. This study aims to construct a simple clinical prediction model for empiric diagnosis of PTB through careful clinical symptoms and medical history.</p><p><strong>Methods: </strong>Retrospective analysis of clinical data and laboratory data of children with PTB and community acquired pneumonia (CAP) diagnosed at Tianjin Children's Hospital from January 2018 to October 2023. All patients were randomly divided into a 7:3 ratio into a modeling group and a validation group. The modeling group was used to perform logistic analysis to identify independent risk factors and construct a clinical prediction model for PTB in children. The validation group was used to further assess the clinical efficacy of the model.</p><p><strong>Results: </strong>A total of 434 children were included in this study. The modeling group included 305 patients (125 with PTB, 180 with CAP) and validation group included 129 patients (53 with PTB, 76 with CAP). Four variables including basic disease, tuberculosis contact history, maximum body temperature and weight loss were identified as potential predictors used for developing a nomogram. The nomogram showed a good diagnostic performance in the modeling group [area under the curve (AUC) (95% confidence interval (CI)), 0.810(0.759 ~ 0.860)]. The decision curve analysis (DCA) and calibration curve indicated that the clinical prediction model for pediatric PTB has good clinical practicality and accuracy. The validation group also showed good clinical efficacy [AUC (95%CI), 0.864(0.794 ~ 0.934)], indicating that the model is feasible and reproducible.</p><p><strong>Conclusions: </strong>This study developed and validated a nomogram for predicting PTB in children. This nomogram represents good clinical performance and might be utilized clinically in the empirical diagnosis of PTB in children.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"271"},"PeriodicalIF":3.1,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137433","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":"Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population.","authors":"Valentina Giorgio, Chiara Di Foggia, Giovanna Quatrale, Gaia Margiotta, Giuseppe Stella, Francesco Proli, Chiara Leoni, Roberta Onesimo, Giulio Cesare Passali, Andrea Contegiacomo, Giuseppe Zampino, Emanuela Lucci Cordisco, Elena Sonnini, Antonio Gasbarrini, Eleonora Gaetani","doi":"10.1186/s13052-025-02087-4","DOIUrl":"10.1186/s13052-025-02087-4","url":null,"abstract":"<p><strong>Background: </strong>Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, hereditary, autosomal dominant vascular disease, characterized by visceral arteriovenous malformations (AVMs), mucocutaneous telangiectasias and epistaxis. While symptomatic medical and surgical therapies are used in the management of pediatric patients, data comparing phenotypic presentation between genetically related individuals (e.g., parent-child pairs) remain limited.</p><p><strong>Aims and methods: </strong>We conducted a single-center retrospective study involving pediatric patients with genetically confirmed HHT and their affected parents at Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome, Italy. The aim of our study was to assess genotype-phenotype correlation and intrafamilial HHT-phenotypic variability. Clinical, laboratory, imaging, and therapeutic data were collected between May 2022 and May 2023. Variables including presence of AVMs, epistaxis, telangiectasias, anemia, and need for interventions were compared between children and their parents.</p><p><strong>Results: </strong>The study included 11 children (mean age 11.8 years) and 9 adults (mean age 47 years), all exhibiting ENG or ACVRL1 variants. While epistaxis was common in both cohorts (91% in children vs. 100% in adults), mucocutaneous telangiectasias and AVMs were more prevalent in adults. AVMs were more frequently detected in adults, especially among ENG carriers. Notably, phenotype concordance between parent-child pairs with the same mutation was observed in only 3 up to 9 families (33.3%), with substantial intrafamilial variability in AVM distribution and disease severity.</p><p><strong>Conclusions: </strong>Our findings confirm the variable expressivity of HHT, even among first-degree relatives sharing the same pathogenic variant. No consistent overlap was observed between parent and child phenotypes, reinforcing the need for individualized pediatric screening and follow-up. Early genetic testing remains essential to prevent complications and guide appropriate management.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"268"},"PeriodicalIF":3.1,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137430","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":"An international standardization to study the clinical use of lung ultrasound to discriminate viral, bacterial and atypical pneumonia in children with community acquired pneumonia.","authors":"Lorenzo Di Sarno, Mariantonietta Francavilla, Azzurra Orlandi, Rosa Morello, Cristina De Rose, Luca Tagliaferri, Anna Clemente, Maria Chiara Supino, Anna Maria Musolino, Danilo Buonsenso","doi":"10.1186/s13052-025-02113-5","DOIUrl":"10.1186/s13052-025-02113-5","url":null,"abstract":"<p><strong>Background: </strong>Community-acquired pneumonia (CAP) is a leading cause of morbidity and mortality in the pediatric population worldwide. Establishing a definitive etiological diagnosis in children with CAP remains challenging, as clinical, laboratory, and radiologic findings are often insufficient. Consequently, empirical and frequently unnecessary antibiotic treatments are commonly prescribed.</p><p><strong>Main body: </strong>Lung ultrasound (LUS) has demonstrated diagnostic accuracy comparable to chest X-ray (CXR) for CAP, while eliminating radiation exposure. Emerging evidence suggests that LUS may also differentiate the underlying etiologies of CAP. Assuming that distinct CAP etiologies exhibit characteristic LUS features, we aim to design a study protocol to develop a predictive model that integrates a child's clinical information with their specific LUS patterns to inform individualized treatment strategies.</p><p><strong>Conclusions: </strong>This clinical approach will comprehensively evaluate clinical, laboratory, LUS, and outcome data from pediatric patients with CAP of various causes. If more centers will use the same approach, this will allow to gather in the short time data from large and diverse cohorts to facilitate the optimization and understanding of how LUS can potentially help understanding the etiology of CAP. The integrated data will be used to support tailored management strategies for pediatric CAP.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"269"},"PeriodicalIF":3.1,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137468","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":"Novel nicotine and tobacco products in pediatric age: a joint position paper.","authors":"Antonio Corsello, Valentina Agnese Ferraro, Laura Reali, Laura Venditto, Mattia Spatuzzo, Maria Elisa Di Cicco, Michele Ghezzi, Luciana Indinnimeo, Stefania La Grutta","doi":"10.1186/s13052-025-02116-2","DOIUrl":"10.1186/s13052-025-02116-2","url":null,"abstract":"<p><p>Electronic nicotine delivery systems (ENDS), heated tobacco products (HTP), and nicotine pouches have rapidly gained popularity among adolescents, driven by appealing flavors, targeted marketing strategies, and widespread misperceptions of reduced harm. This joint position paper, endorsed by the Italian Society of Pediatrics (SIP) and the Italian Pediatric Respiratory Society (SIMRI), considers current evidence on patterns of youth use and outlines potential prevention strategies. We examine industry tactics, including social-media influencer campaigns and product design features that disproportionately attract adolescents, and discuss the influence of peer, family, and environmental factors on product uptake. Parents and caregivers play a pivotal role through open dialogue, modeling nicotine-free behaviors, and monitoring access. Pediatricians and primary-care providers should incorporate routine screening for all nicotine products into well-child visits, deliver brief motivational counseling, and connect families with cessation resources tailored to teens. Continuous surveillance of youth consumption patterns and systematic evaluation of intervention effectiveness will ensure strategies remain responsive to evolving product designs and marketing practices. Through coordinated policy changes, healthcare support, community action, and education, it is possible to prevent nicotine initiation among adolescents and foster a generation free from smoke and vaping addiction.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"270"},"PeriodicalIF":3.1,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137596","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":"Management of acute mastoiditis in children: a retrospective analysis.","authors":"Marella Reale, Carlotta Montagnani, Pietro Orlando, Luca Mazzetti, Marco Trinci, Luca Leone, Mariapaola Guidi, Giuseppe Indolfi, Sandra Trapani, Franco Trabalzini, Luisa Galli","doi":"10.1186/s13052-025-02075-8","DOIUrl":"10.1186/s13052-025-02075-8","url":null,"abstract":"<p><strong>Background: </strong>Acute mastoiditis (AM) is the most common complication of acute otitis media (AOM) and could lead to serious complications if not diagnosed early and treated appropriately. Nowadays, there is no definitive consensus about the diagnostic algorithm and the optimal therapeutic management for patients with AM. The purpose of this study is to analyze the management of children admitted for AM and complicated AM (CAM) in a referral children's hospital, evaluating differences in clinical presentation and management to outline a diagnostic and therapeutic pathway. Moreover, the incidence over time was assessed.</p><p><strong>Methods: </strong>Retrospective study of children admitted for AM at Meyer University Hospital- IRCCS, Florence from January 2016 to December 2023.</p><p><strong>Results: </strong>Eighty-five patients were included in the study (60% male, median age 4 years), the microbiological examinations were carried out in 68% of them. The most frequent isolated pathogens were Pseudomonas aeruginosa in AM and Streptococcus pyogenes in CAM. Seventeen patients developed a CAM. An elevated CRP value is associated with an increased risk of CAM (p = 0.043). Management of patients with AM was mainly medical with intravenous antibiotics. Surgical intervention was required only in one case (1 out of 68). In contrast, surgical intervention was required in 76% of CAM cases (13 out of 17). The most common procedure was mastoidectomy combined to abscess drainage, according to the predominance of this complication in our study group. Only one patient had a recurrence leading to a second surgery. No significant statistical correlation was found between the occurrence of complications and younger age, personal history of otitis or leukocyte count. A significant increase in AM case was found during the study period.</p><p><strong>Conclusions: </strong>AM and CAM are infrequent but potentially life-threatening complications of AOM. A marked rise in AM cases was observed in 2023, likely due to the lifting of pandemic restrictions. A heterogeneous management of mastoiditis was observed, even within a single center. Elevated CRP levels are the only identified parameter associated with the complicated form. Pediatricians should be aware of the importance of a prompt diagnosis and guidelines should be developed to support effective management.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"272"},"PeriodicalIF":3.1,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12462347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145137473","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":"Staphylococcical scalded skin syndrome: a case series description of a rare and critical disease in a tertiary pediatric center.","authors":"Agnese Tamborino, Elisabetta Venturini, Carlotta Montagnani, Leila Bianchi, Giuseppe Indolfi, Elena Chiappini, Luisa Galli, Sandra Trapani","doi":"10.1186/s13052-025-02078-5","DOIUrl":"10.1186/s13052-025-02078-5","url":null,"abstract":"<p><strong>Background: </strong>Staphylococcal-scalded skin syndrome (SSSS) is a potentially life-threatening disorder characterized by superficial skin blistering caused by exfoliative toxins produced by Staphylococcus aureus. This study aimed to investigate SSSS in a cohort of children admitted at a tertiary pediatric hospital in Italy.</p><p><strong>Methods: </strong>Patients discharged with the diagnosis of staphylococcal infection and of SSSS between January 2010 and March 2023 were retrospectively identified using ICD-9-CM codes (695.81 and 041.1, respectively). Medical records were reviewed to extract epidemiological, clinical, and hematological data, treatment details (type and duration), length of hospitalization, and outcomes.</p><p><strong>Results: </strong>Among 971 children with staphylococcal infection, 21 (2.1%) were diagnosed with SSSS. The mean age of 36.8 (interquartile range, IQR 8.5-50.7) months, with 86% under 5 years old. Incidence peaked in winter, summer, and autumn (27.3%, respectively), possibly due to viral co-infection. The admissions/year rate did not indicate an upward trend. Almost all children were healthy. No previous trauma, insect bites, drugs, vaccines, or allergy history have been reported; atopic dermatitis has been reported in one girl. Leukocytosis and elevated C-reactive protein were uncommon. Severe complications were seen in three cases (14.3%): one with severe dehydration with hyponatremia, one with sepsis and the last with Herpes Simplex Virus 1 (HSV1) infection. S. aureus was detected by culture from skin lesions in nine cases (42.9%), by real-time polymerase chain reaction (RT-PCR) assay on vesicle fluid in seven (33%), and by throat culture in one (4.7%). Drug susceptibility tests ruled out resistance and all children received intravenous (IV) antibiotics: oxacillin in 76% of patients, while teicoplanin and clindamycin in 19%. The median duration of IV and oral antibiotic therapy was 12.8 days (IQR 10-14). Only one patient was treated with IV immunoglobulin. The median hospitalization length was 7.8 days (IQR 5-9). All our cases had a favorable outcome.</p><p><strong>Conclusion: </strong>Demographic, clinical. and hematological features of children with SSSS in this study were comparable with those reported in the literature. The improved awareness of pediatricians should faster diagnosis, which is mainly clinical, and early assessment of appropriate management.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"267"},"PeriodicalIF":3.1,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12406360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144954341","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 characteristics of SFTPC gene mutations in children: a single-center experience.","authors":"Tongyu Yang, Feizhou Zhang, Guimei Zheng, Dehua Yang, Lei Wu, Xuan Jia, Guohong Zhu, Lanfang Tang","doi":"10.1186/s13052-025-02101-9","DOIUrl":"10.1186/s13052-025-02101-9","url":null,"abstract":"<p><strong>Background: </strong>In pulmonary surfactants, surfactant protein C (SP-C) plays a critical role in regulating surface tension at the air-liquid interface of alveoli, primarily due to its robust hydrophobic property. Genetic mutations in the SP-C gene can compromise its structural integrity, thereby impairing its functional efficiency in surface tension modulation.</p><p><strong>Method: </strong>A retrospective analysis was performed on 11 pediatric patients harboring SP-C gene mutations who were admitted to our medical center between June 2014 and June 2024.</p><p><strong>Results: </strong>11 pediatric patients with heterozygous SFTPC gene mutations were identified at our center. The age of onset spanned from birth to 5 years 2 months. Genetic analysis revealed that 9 patients carried the same SFTPC gene mutation at c.218T > C (p.Ile73Thr). 1 case previously reported, had compound mutations in both NKX2-1 and SFTPC genes. 1 case was newly identified splicing variant (c.612 + 1G > T). Predominant clinical manifestations included dyspnea and respiratory failure. Chest imaging predominantly demonstrates interstitial lung diseases (ILDs). In treatment, besides oxygen support, 3 patients received hydroxychloroquine (Hch) and 7 cases were administered azithromycin for infection prophylaxis. All patients received low-dose methylprednisolone (1-2 mg/kg/day) during the course. Bronchoalveolar lavage (BAL) was performed in 3 cases with pulmonary alveolar proteinosis and one cases with pulmonary atelectasis. Long-term follow-up through the present time revealed 4 deaths and 7 survivors among the cohort.</p><p><strong>Conclusion: </strong>The c.218T > C (p.Ile73Thr) variant represents a hotspot mutation in the SFTPC gene, clinically manifesting as ILDs. The therapeutic efficacy of Hch in managing ILDs has been increasingly recognized in clinical practice. BAL is assuming a growing role in both the diagnosis and treatment of SFTPC-related pediatric ILD. Given the heterogeneity of mutation sites, the pathogenic mechanisms underlying lung injury may vary among patients, underscoring the need for personalized diagnostic and therapeutic strategies tailored to specific genetic profiles.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"266"},"PeriodicalIF":3.1,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144954191","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 survey of current management practices for delayed maculopapular exanthemas during antibiotic treatment among primary care pediatricians.","authors":"Lucia Liotti, Annamaria Bianchi, Giuseppe Crisafulli, Silvia Caimmi, Paolo Bottau, Fabrizio Franceschini, Rocco Luigi Valluzzi, Sara Riscassi, Francesca Saretta, Michele Miraglia Del Giudice, Carlo Caffarelli, Francesca Mori","doi":"10.1186/s13052-025-02106-4","DOIUrl":"https://doi.org/10.1186/s13052-025-02106-4","url":null,"abstract":"<p><strong>Background: </strong>Several guidelines recommended how to manage delayed maculopapular exanthemas during antibiotic treatment. The aim of the present survey was to assess knowledge gaps of primary care pediatricians in managing children with delayed maculopapular exanthemas during a course of antibiotics.</p><p><strong>Methods: </strong>We conducted an online survey among primary care pediatricians in Italy, focusing on the management of children with maculopapular exanthemas occurring during antibiotic administration.</p><p><strong>Results: </strong>We found that 41% of pediatricians continued with the same antibiotic after the onset of mild to moderate maculopapular exanthemas. Additionally, only 25% took pictures of the skin manifestations during the acute phase, and 66% recorded the latency of the reaction.</p><p><strong>Conclusions: </strong>Primary care management of children with suspected antibiotic induced maculopapular exanthemas is heterogeneous. Primary care physicians and allergists need to share common decisions and protocols to avoid mislabelling children as allergic to antibiotics.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"264"},"PeriodicalIF":3.1,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144954209","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 comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.","authors":"Xiaolei Tang, Shunying Zhao, Yuelin Shen, Yu Tang, Xingfeng Yao, Hui Xu, Hui Liu, Xiaoyan Zhang, Xiao Li, Yanqiong Wang, Haiming Yang","doi":"10.1186/s13052-025-02110-8","DOIUrl":"https://doi.org/10.1186/s13052-025-02110-8","url":null,"abstract":"<p><strong>Background: </strong>Surfactant dysfunction disorders are a group of rare diseases that lead to childhood interstitial lung diseases (ILD). SFTPC, ABCA3, and NKX2-1 are the three genetic forms of this condition. The differences in clinical presentations and prognostic outcomes across these genotypes are not well understood, warranting comparative analysis.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study of 22 children with genetically confirmed surfactant dysfunction disorders (11 SFTPC, 5 ABCA3, 6 NKX2-1). Comprehensive evaluations included clinical features, high-resolution computed tomography (HRCT), serum Krebs von den Lungen-6 antigen (KL-6) levels, autoantibody profiles, immune function assessments, bronchoalveolar lavage fluid analysis, echocardiography, pathology, genetic testing, treatment regimens, and outcomes.</p><p><strong>Results: </strong>The median age at onset was 0.7 years, with the earliest onset in the NKX2-1 group (0.4 years) and the latest in the ABCA3 group (1.7 years). At presentation, the SFTPC group had the lowest respiratory symptom scores, followed by the ABCA3 group, while the NKX2-1 group showed the highest scores (P = 0.034). Pulmonary hypertension prevalence varied significantly among groups (P = 0.005), being highest in the NKX2-1 group (66.7%) and absent in the SFTPC group. KL-6 levels were lowest in the SFTPC group (1302 U/mL), intermediate in the ABCA3 group (4780 U/mL), and highest in the NKX2-1 group (6106.5 U/mL) (P = 0.064). Positive autoantibodies were detected in 27.3% of cases, and diffuse alveolar hemorrhage (DAH) occurred in 13.6%. At the last follow-up, the NKX2-1 group had significantly higher HRCT scores (P = 0.030) and KL-6 levels (P = 0.024) compared to the SFTPC group. The SFTPC group showed significant improvements in symptom scores (median 4 to 2, P = 0.001), HRCT scores (median 24 to 11, P = 0.001), and KL-6 levels (median 1302 U/mL to 620.5 U/mL, P = 0.008) after treatment. In contrast, the NKX2-1 group had worsening symptom scores (median 4.5 to 5.5, P = 0.031) and HRCT scores (median 17.5 to 30, P = 0.031). Among patients receiving combination therapy of corticosteroid and hydroxychloroquine, the SFTPC group had the lowest mortality rate (0%), while the NKX2-1 group had the highest (60%) (P = 0.041).</p><p><strong>Conclusion: </strong>Patients in the SFTPC group were associated with milder phenotypes and better prognosis than patients in the NKX2-1 group in our cohort. A potential association between surfactant dysfunction disorders and autoimmune conditions, as well as DAH, may exist, warranting further investigation.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"265"},"PeriodicalIF":3.1,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144954073","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 relationship between the expression of serum PTEN and TLR4 and the severity and prognosis of neonatal sepsis.","authors":"Jing Lu, Jing Wang, Qiongfei Qi, Meng Du","doi":"10.1186/s13052-025-02096-3","DOIUrl":"10.1186/s13052-025-02096-3","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;To investigate the relationship between the expression of serum PTEN and TLR4 and the severity and prognosis of neonatal septicemia and the guiding significance of management strategy.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;116 newborns with sepsis admitted to the neonatal department of our hospital from March 2021 to June 2023 were recruited as research subjects. According to the Sequential Organ Failure Assessment (SOFA) scoring system, newborns with scores of 1 to 18 were set into the mild sepsis group (n = 64), newborns with scores from 19 to 24 were set into the severe sepsis group (n = 52), and 8 patients died in the severe sepsis group (death group), 44 cases survived (survival group). During the same period, 50 newborns with normal physical examination were selected as the control group. All patient guardians signed informed consent before inclusion in the study. The inflammation level of the newborns was detected by enzyme-linked immunosorbent assay and automated blood cell counter. The serum Phosphatase and Tensin Homolog (PTEN) and Toll-like Receptor 4 (TLR4) levels of the newborns were tested by enzyme-linked immunosorbent assay. The serum PTEN and TLR4 levels of newborns with severe sepsis were compared between the death group and the survival group. The correlation between PTEN, TLR4 and inflammatory indicators Procalcitonin (PCT), C-Reactive Protein (CRP), Heparin-Binding Protein (HBP), and White Blood Cell Count (WBC) was analyzed by Pearson correlation. The value of biomarkers on the condition and prognosis of newborns was analyzed through Receiver Operating Characteristic (ROC) curves.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The levels of PCT, CRP, HBP and WBC in the severe sepsis group and mild sepsis group were higher than control group (p &lt; 0.05). The levels of PCT, CRP, HBP and WBC in the severe sepsis group were higher than mild sepsis group (p &lt; 0.05). The PTEN levels in the severe sepsis group and mild sepsis group were lower than control group (p &lt; 0.05), and the PTEN levels in the severe sepsis group were lower than mild sepsis group (p &lt; 0.05). The TLR4 levels in the severe sepsis group and mild sepsis group were higher than control group (p &lt; 0.05), and the TLR4 levels in the severe sepsis group were higher than mild sepsis group (p &lt; 0.05). The PCT, CRP, HBP and WBC levels of newborns in the death group were higher than survival group (p &lt; 0.05). The PTEN level in the death group was lower than survival group (p &lt; 0.05), and the serum TLR4 level in the death group was higher than survival group (p &lt; 0.05). PTEN was negatively correlated with PCT, CRP, HBP and WBC (p &lt; 0.05), that is, the increase in PTEN levels may be related to the reduction of inflammatory response. TLR4 is positively correlated with PCT, CRP, HBP and WBC indicators (p &lt; 0.05), indicating that when TLR4 levels increase, the levels of PCT, CRP, HBP and WBC also tend to increase. Compared with other biomarkers, PTEN and TLR4 showed h","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"262"},"PeriodicalIF":3.1,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12382025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144954381","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}