Italian Journal of Pediatrics最新文献

{"title":"Association of meteorological factors with childhood pneumonia incidence in Central Gondar Zone, Northwest Ethiopia: a time-series study (2013-2022).","authors":"Lidetu Demoze, Gelila Yitageasu","doi":"10.1186/s13052-025-02072-x","DOIUrl":"10.1186/s13052-025-02072-x","url":null,"abstract":"<p><strong>Background: </strong>Childhood pneumonia remains a significant clinical and public health challenge, contributing to substantial morbidity and mortality in under five years of age, including Ethiopia. Despite efforts to reduce its impact, childhood pneumonia persists as a leading cause of death in young children, particularly in low-resource settings. This study investigates the association between childhood pneumonia incidence and meteorological factors in the Central Gondar Zone, northwest Ethiopia, from January 2013 to December 2022.</p><p><strong>Methods: </strong>Institution based time-series cross-sectional study design was conducted in Central Gondar Zone, Northwest Ethiopia. Data on childhood pneumonia cases were obtained from the Central Gondar Zone Health Department and Gondar Administrative Health Department. Meteorological data, including temperature, rainfall, and relative humidity, were sourced from the West Amhara Meteorology Agency. Spearman correlation, bivariate negative binomial, and multivariable negative binomial regressions were employed to analyze the relationship between childhood pneumonia incidence and meteorological factors.</p><p><strong>Results: </strong>The findings reveal a consistent increase in childhood pneumonia incidence during the study period. Specifically, there is a significant inverse association between mean monthly temperature and the incidence of childhood pneumonia, indicating a higher incidence during the cooler month. In contrast, mean monthly rainfall demonstrates a positive association with childhood pneumonia incidence, suggesting increased incidence following periods of higher rainfall. However, no significant association was observed between relative humidity and childhood pneumonia incidence.</p><p><strong>Conclusions: </strong>These results underscore the complex interplay between meteorological factors and childhood pneumonia incidence, with implications for public health interventions and climate adaptation strategies in Ethiopia. Understanding these associations can inform targeted interventions to mitigate the impact of childhood pneumonia, particularly in climate-vulnerable regions.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"225"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261828/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637037","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 epidemic trend of rhinovirus in children from 2013 to 2023: a large sample study in China.","authors":"Ting Shi, Yiwen Ni, Weiming Li, Linlin Huang","doi":"10.1186/s13052-025-02069-6","DOIUrl":"10.1186/s13052-025-02069-6","url":null,"abstract":"<p><strong>Background: </strong>This study described the prevalence trend of human rhinovirus(HRV) in children with acute respiratory infections(ARIs), which can warn people to interfere in advance and prevent the spread of rhinovirus.</p><p><strong>Methods: </strong>We retrospectively collected the data on sex, age, admission time, discharge diagnosis and HRV reverse transcription polymerase chain reaction (RT-PCR) assay result of inpatients at Children's Hospital of Soochow University from 2010 to 2023.</p><p><strong>Results: </strong>There are 77,062 patients were enrolled, including 44,564 males (57.8%) and 32,498 females (42.2%). The positive rate of HRV during pre-, during- and post abolition-NPIs periods was 13.1%(5473/41875), 18.5%(3843/20800) and 21.0%(3031/14398), respectively. It was significant that the positive rate of HRV was gradually increasing with time(P<0.05). By multivariate regression analysis HRV prevalence were more common in male than female over all periods(P<0.05). HRV were more common in ≤ 1 year group than other age groups in pre-NPIs period (P<0.05). In during-NPIs and post-NPIs periods, HRV was more likely to occur in the 3-≤6 years groups. The seasonal trend of HRV showed a double peak each year, but the peak of it was advanced by one month in post-NPIs period.</p><p><strong>Conclusions: </strong>Although the NPIs could not effectively prevent the spread of HRV, it changed the age and seasonal epidemic pattern of HRV in children.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"227"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637060","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":"Development of an early mortality risk prediction model for pediatric patients with secondary hemophagocytic lymphohistiocytosis.","authors":"Nandu Luo, Guangli Yang, Pingping Zhang, Baoli Li, Yan Chen, Zuochen Du, Pei Huang","doi":"10.1186/s13052-025-02084-7","DOIUrl":"10.1186/s13052-025-02084-7","url":null,"abstract":"<p><strong>Background: </strong>To establish a visual prediction model for the risk of early mortality in pediatric patients with secondary hemophagocytic lymphohistiocytosis (sHLH).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 128 pediatric sHLH cases diagnosed at the Affiliated Hospital of Zunyi Medical University between January 2012 and April 2023. Logistic regression analysis was employed to identify prognostic factors for pediatric patients with sHLH. A nomogram prediction model was constructed using R software. The receiver operating characteristic (ROC) curve, calibration curve, decision clinical curve (DCA), and clinical impact curve (CIC) were plotted to evaluate the discriminative power and clinical application value of the prediction model.</p><p><strong>Results: </strong>Among the 128 pediatric patients with sHLH included in the study, 90 (70.31%) were associated with infections, and 37 (28.9%) died within 30 days after admission. In the fully adjusted model, central nervous system involvement (CNSI) (OR = 9.496, 95% CI = 2.965-30.410), prognostic nutrition index (PNI) (OR = 0.931, 95% CI = 0.872-0.994), and activated partial thromboplastin time (APTT) (OR = 1.029, 95% CI = 1.007-1.052) were identified as independent risk factors affecting early mortality risk in pediatric patients with sHLH, while the use of blood purification combined with HLH-94/2004 treatment (OR = 0.097, 95% CI = 0.024-0.395) was an independent protective factor. Based on these independent prognostic factors, a nomogram prediction model was constructed. The ROC curve (AUC = 0.880) and calibration curve (χ² = 10.12, P = 0.257) demonstrated good discriminability and fit. The DCA curve and CIC curve indicated that the model had good clinical applicability.</p><p><strong>Conclusion: </strong>The nomogram model has good discriminability and accuracy in predicting the risk of early death in pediatric patients with sHLH.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"221"},"PeriodicalIF":3.2,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12257782/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637041","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":"Fourteen-year analysis of rugby injuries in a pediatric emergency department.","authors":"Veronica Baioccato, Silvia Paronuzzi, Marco Bazo, Emanuele Zanardo, Viola Sattin, Giulia Lorenzoni, Dario Gregori, Andrea Ermolao, Silvia Bressan","doi":"10.1186/s13052-025-02083-8","DOIUrl":"10.1186/s13052-025-02083-8","url":null,"abstract":"<p><strong>Background: </strong>Rugby is the third most played contact team sport worldwide. Its growing popularity is raising concerns about injuries rates, given its collision-based nature and minimal use of protective gear. However, research on rugby injuries in Italy, especially in the pediatric age group, remains limited.</p><p><strong>Methods: </strong>This retrospective study examined the visits of patients with rugby-related injuries presenting to a tertiary-care Pediatric Emergency Department (PED) in the Veneto region of Italy, which is the Italian region with the highest rate of youth rugby participation.</p><p><strong>Results: </strong>The data of 928 PED admissions for rugby-related injuries were extracted from the electronic PED medical records between 2007 and 2021, and analyzed for demographics, injury characteristics and outcomes. Rugby-related injuries accounted for 0.3% of total PED visits (total admissions: 306,508). Injuries to the upper limbs were the most common (40.8%), with contusions being the most frequent diagnoses (34.7%). Concussions accounted for 12.6% of all injuries. The most common injury mechanism was contact with another player (71%). Most injuries were minor, resulting in discharge to home in 97% of cases, while only 3% required hospitalization.</p><p><strong>Conclusions: </strong>This study provides insights into pediatric rugby injuries in the Italian setting. Our findings highlight the importance of prevention strategies for concussion and upper limb injuries. Further research is warranted to adopt evidence-based interventions for reducing the burden of rugby-related injuries in children and youth.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"220"},"PeriodicalIF":3.2,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12255051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144618095","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":"Intrauterine inflammation exposure may increase the risk of late-onset sepsis in premature infants: a retrospective cohort study.","authors":"Xiafang Chen, XinYu Zhang, Ru Xue, Lanlan Mi, Ye Liu, Guoqing Zhang, Jun Bu, Fei Bei","doi":"10.1186/s13052-025-02040-5","DOIUrl":"10.1186/s13052-025-02040-5","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Preterm birth associated with intrauterine inflammation (IUI) has been linked to alterations in postnatal immunity and severe inflammatory complications during infancy. However, the impact of IUI on late-onset sepsis (LOS), a leading cause of mortality and morbidity in preterm infants, remains unclear. This study aims to elucidate the effect of IUI on the incidence of LOS in preterm infants by analyzing cytokine levels and white blood cell differential counts in cord blood within 24 h after birth.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This retrospective cohort study was conducted at a single tertiary neonatal center. Infants born before 37 weeks of gestation between July 2020 and June 2022 were included. Late-onset sepsis (LOS) was defined as sepsis occurring after 72 h of life during the birth hospitalization. Levels of 12 cytokines, including interleukin-1β (IL-1β), IL-2, IL-4, IL-5, IL-6, IL-8, IL-10, IL-12p70, IL-17, tumor necrosis factor-α (TNF-α), interferon-α (IFN-α), and IFN-γ, were measured in cord blood using multiplex bead-based flow immunoassays. Clinical data were extracted from hospital databases. Peripheral white blood cell counts within 24 h after birth were routinely recorded for preterm infants. Logistic regression analysis was used to assess the impact of cytokines and white blood cell counts on the incidence of LOS.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 628 preterm infants were included in this study. The mean gestational age was 33.17 ± 2.25 weeks, and the mean birth weight was 1929.50 ± 516.77 g. Of these, 42 infants (6.7%) developed late-onset sepsis (LOS). Compared to the non-LOS group, cord blood levels of IL-6 [127.81 (399.86) vs. 31.02 (127.48), p = 0.004] and IL-8 [130.37 (202.53) vs. 52.91 (101.43), p = 0.001] were significantly higher in the LOS group. No significant differences were observed in the levels of other cytokines between the groups. Peripheral neutrophil and monocyte counts were significantly lower in the LOS group [5.08 ± 3.46 vs. 8.14 ± 4.90, p &lt; 0.001; 0.98 ± 0.56 vs. 1.37 ± 0.72, p = 0.001, respectively]. Multivariable logistic regression analysis revealed that elevated cord blood IL-6 levels and reduced peripheral neutrophil counts were associated with an increased risk of LOS, after adjusting for gestational age, gestational hypertension, and antenatal steroid use (aOR = 3.113, 95% CI: 1.239-7.819, p = 0.016; aOR = 0.340, 95% CI: 0.818-0.994, p = 0.038, respectively).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Elevated cord blood IL-6 levels and low peripheral neutrophil counts on the first day after birth are associated with an increased risk of LOS in preterm infants. These findings highlight the potential of these non-invasive biomarkers in clinical practice to improve the prediction of LOS risk. Early identification using these markers may facilitate targeted management strategies, thereby reducing complications and mortality rates. Moreover, the association suggests that","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"218"},"PeriodicalIF":3.2,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12247326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608367","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":"Shifting epidemic trends and severity in pediatric Mycoplasma pneumoniae infections in the post-COVID-19 era.","authors":"Zongming Yang, Rui Shi, Xiuyun Zhou, Dong Xu, Wankai Xue, Wenjing Zhang, Xiaopei Cao, Jing Peng, Xiaoping Luo, Yongjian Huang","doi":"10.1186/s13052-025-02064-x","DOIUrl":"10.1186/s13052-025-02064-x","url":null,"abstract":"<p><strong>Background: </strong>While non-pharmaceutical interventions (NPIs) implemented for COVID-19 have been shown to affect the epidemiology of respiratory pathogens, the impact of China's prolonged NPIs on Mycoplasma pneumoniae (MP) remains unclear. This study aimed to analyze the MP test positivity rates, as well as assessing disease severity in pediatric cases before and after the three-year NPI period.</p><p><strong>Methods: </strong>We conducted a repeated cross-sectional study using electronic health records from Tongji Hospital, Wuhan, China. Children aged ≤ 14 years who tested nasopharyngeal/oropharyngeal swabs for MP using real-time polymerase chain reaction from January 2023 to June 2024 were included, along with data from four pre-intervention years (2016-2019). Primary outcomes included monthly MP test positivity rates and severity outcomes. To assess changes in test positivity, segmented quasi-Poisson regression models were used to calculate prevalence ratio (PR) and 95% confidence interval (CI). Linear regression models were employed to evaluate changes in continuous severity parameters, while log-binomial models were used to assess the PR for dichotomous severity outcomes.</p><p><strong>Results: </strong>Among 56,232 pediatric patients, 10,476 (18.63%) tested positive for MP. The post-intervention MP resurgence peaked later, with an average monthly positivity rate significantly exceeding predicted values (18.77% vs. 10.87%; PR = 1.69, 95% CI: 1.33, 2.16). After adjusting for age and sex, children hospitalized with MP infection in the post-intervention period exhibited higher white blood cell counts (10^⁹/L, β = 0.60, 95% CI: 0.24, 0.97), lower lactate dehydrogenase levels (IU/L, β=-11.15 95% CI: -18.76, -3.55), lower hemoglobin levels (g/L, β=-1.44, 95% CI: -2.05, -0.83), and increased risks for bronchopneumonia (PR = 1.35, 95% CI: 1.02, 1.81), oxygen administration (PR = 3.95, 95% CI: 3.32, 4.76), intrapulmonary complications (PR = 2.73, 95% CI: 2.03, 3.76), extrapulmonary complications (PR = 1.76, 95% CI: 1.41, 2.22), severe pneumonia (PR = 1.45, 95% CI: 1.22, 1.74), and glucocorticoid use (PR = 1.17, 95% CI: 1.11, 1.25) compared with the pre-intervention group.</p><p><strong>Conclusions: </strong>A significant increase in MP infections and disease severity was observed following the relaxation of NPIs in late 2022, warranting further investigation into the long-term effects of NPIs on MP infections in children.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"219"},"PeriodicalIF":3.2,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12247333/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608368","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 impact of maternal health and lifestyle on low birth weight: a prospective cohort study.","authors":"Xiaorui Ruan, Kebin Chen, Ziye Li, Jianhui Wei, Ye Chen, Qi Zou, Yuan Peng, Manjun Luo, Mengting Sun, Tingting Wang, Jiabi Qin","doi":"10.1186/s13052-025-02080-x","DOIUrl":"10.1186/s13052-025-02080-x","url":null,"abstract":"<p><strong>Background: </strong>To explore maternal pregestational and periconceptional factors associated with low birth weight in offspring and inform the development of targeted interventions.</p><p><strong>Methods: </strong>A prospective birth cohort involving 34,104 pregnant women and their offspring was constructed. The participants were enrolled during 8-14 gestational weeks and followed up at 3 months postpartum. Modified Poisson regression with robust error variances was employed to examine the associations between low birth weight and various maternal factors, including demographics, medical history, obstetric factors, lifestyle behaviors, nutrition, and environmental exposures.</p><p><strong>Results: </strong>The incidence of low birth weight was 8.9% (95%CI: 8.6-9.2). Maternal demographic factors, including advanced gestational age (≥ 35 years, RR = 1.14), urban residence (RR = 1.74) and a lower education level, were found to be associated with low birth weight. Pregestational medical and behavioral factors significantly increased the risk of low birth weight, including multiparity, a history of preterm birth, diseases such as tuberculosis and syphilis, and alcohol consumption (RRs: 1.71, 1.56, 2.27, 2.25, and 1.54, respectively). Additionally, periconceptional factors also significantly contributed to low birth weight, including medical factors (infections, gestational complications such as preeclampsia, a lack of folic acid supplementation; RRs: 2.36, 5.97, 1.48), nutritional factors (being underweight before conception, weight gain < 10 kg during pregnancy, imbalanced diet; RRs: 1.59, 2.42, 1.34), behavioral factors (alcohol consumption and moderate-to-high physical activity; RRs: 1.23 and 1.22), and exposure to renovation pollutants (RR = 1.21). Overall, observed modifiable risk factors accounted for 40.92% of low birth weight cases, with a greater proportion found in mothers with advanced gestational age than in those under 35 years (44.61% vs. 31.91%). Among these factors, achieving adequate weight gain during pregnancy (≥ 10 kg) could prevent 20.59% (18.68-22.45) of cases. Furthermore, the incidence of low birth weight may be effectively reduced through maintaining a balanced diet, supplementing folic acid, and avoiding excessive physical activity during pregnancy.</p><p><strong>Conclusions: </strong>Mothers at risk for delivering low-birth-weight infants can be identified based on pregestational and periconceptional factors. This could be prevented through targeted interventions, including nutritional and behavioral measures. Tailored interventions should be prioritized by antenatal care providers.</p><p><strong>Trial registration: </strong>The study was retrospectively registered in Chinese Clinical Trial Registry Center on 06/14/2018, registration number: ChiCTR1800016635, available at: https://www.chictr.org.cn/showproj.html?proj=28300 .</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"217"},"PeriodicalIF":3.2,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12247386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608369","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":"Risk factors analysis of airway mucus plugs in community-acquired refractory mycoplasma pneumoniae pneumonia: a case-control study.","authors":"Liping Li, Chunlan Song, Xiaowen Yi, Peng Li, Yuanzhe Li","doi":"10.1186/s13052-025-02071-y","DOIUrl":"10.1186/s13052-025-02071-y","url":null,"abstract":"<p><strong>Background: </strong>To analyze the clinical characteristics and explore the risk factors for airway mucus plugs in children with community-acquired refractory Mycoplasma pneumoniae pneumonia (ca-RMPP).</p><p><strong>Methods: </strong>A retrospective study was conducted on hospitalized children diagnosed with ca-RMPP from October 2023 to October 2024. The patients were divided into airway mucus plugs group and non-airway mucus plugs group based on the imaging findings under fiberoptic bronchoscopy. The differences in general data's, clinical manifestations, imaging changes, pathogens, and laboratory data's between the two groups were compared. Multivariate logistic regression was applied to analyze the independent risk factors for airway mucus plugs in children with ca-RMPP, and the Receiver operating characteristic (ROC) curve was used to evaluate the effectiveness of risk factors.</p><p><strong>Results: </strong>Length of hospital stay(LOS), Duration of fever, Duration of steroid treatment, Pleural effusion, Neutrophil percentage (NEU%), C-reactive protein (CRP), Procalcitonin (PCT), D-Dimer, Serum amyloid A (SAA), Lactate dehydrogenase (LDH), Ferritin, T8 lymphocyte percentage (CD8+%), Interleukin-1 β (IL-1 β), Interleukin-6 (IL-6), Interleukin-8 (IL-8) in the airway mucus plugs group were all higher than those in the non-airway mucus plugs group, While, the Lymphocyte percentage (LYM%) and CD4/CD8 ratio were lower than those in the non-airway mucus plugs group, and the differences were statistically significant ( p < 0.05). LOS ≥ 7.5 days, Duration of fever ≥ 6.5 days, CRP ≥ 13.11 mg/L, SAA ≥ 256.205 mg/L, and Ferritin ≥ 97.7ng/mL were independent risk factors.</p><p><strong>Conclusion: </strong>LOS, Duration of fever, CRP, SAA, and Ferritin are independent risk factors for airway mucus plugs in children with ca-RMPP and the combined test can improve the diagnostic value.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"216"},"PeriodicalIF":3.2,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591259","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 novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.","authors":"Jinli Bai, Ping Li, Hui Jiao, Yuwei Jin, Hong Wang, Qinglin Jiang, Fang Song, Xiaoyin Peng, Yujin Qu","doi":"10.1186/s13052-025-02058-9","DOIUrl":"10.1186/s13052-025-02058-9","url":null,"abstract":"<p><strong>Background: </strong>Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder caused by ASAH1 gene variants. Although ASAH1 coding variants cause SMA-PME, the impact of noncoding variants, particularly noncanonical splice-site variants, is less clear.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES) was performed on the proband, and Sanger sequencing was used to confirm the carrier status of the variants in the core family members. Complementary DNA (cDNA) and minigene splicing assays were performed to validate the splicing effects.</p><p><strong>Results: </strong>Two heterozygous ASAH1 variants were identified through WES: c.304dupA (p.Thr102Asnfs*14) and c.264 + 11A > G. Sanger sequencing confirmed that the variants were bi-parentally segregated in trans: c.304dupA was inherited from the father, and c.264 + 11A > G was inherited from the mother. The c.304dupA variant was classified as pathogenic according to the ACMG guidelines. However, the c.264 + 11A > G variant in intron 3 was reported for the first time, and its functional impact has not yet been fully elucidated. Complementary DNA (cDNA) and minigene splicing assays indicated that the c.264 + 11A > G variant generated two transcripts. Approximately 10% of the ASAH1 transcripts from the allele carrying c.264 + 11A > G were full length, whereas the remaining transcripts lacked exon 3. Exon skipping results from aberrant splicing, which potentially leads to a premature termination codon (PTC, p.Tyr59Ter).</p><p><strong>Conclusion: </strong>To the best of our knowledge, the c.264 + 11A > G is the first likely pathogenic noncanonical splice-site variant identified in this gene. This drives the pathogenesis of SMA-PME through exon 3 skipping. Our findings provide new insights into the intricate splicing mechanisms of noncanonical splice-site variants, emphasizing the unique role of cDNA analysis and minigene splicing assays in the precise diagnosis and genetic counseling of SMA-PME cases.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"214"},"PeriodicalIF":3.2,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591256","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":"Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.","authors":"Rossella Vitale, Manuela Capozza, Antonia Filannino, Michele Quercia, Chiara Novielli, Grazia Calderoni, Francesco De Leonardis, Nicola Santoro, Stefania Martino, Nicoletta Resta, Nicola Laforgia","doi":"10.1186/s13052-025-02055-y","DOIUrl":"10.1186/s13052-025-02055-y","url":null,"abstract":"<p><strong>Background: </strong>Infantile myofibromatosis, a rare soft tissue neoplasm that may present at birth or in early infancy, is the most common fibrous tumor of infancy and early childhood. Diagnosis could be challenging due to different clinical presentation. Very few cases are detected prenatally and visceral involvement is extremely rare.</p><p><strong>Case presentation: </strong>We present a case of Disseminated Infantile Myofibromatosis with challenging prenatal ultrasound and misleading clinical presentation. Diagnosis was very difficult and confirmed by pathology results obtained after birth.</p><p><strong>Conclusions: </strong>Visceral involvement constitutes a specific unfavorable prognostic factor but a watchful waiting approach would always be appropriate, since spontaneous regression and a favourable evolution are possible and age-related chemotherapy severe side effects and long-term sequelae are matter of concern.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"215"},"PeriodicalIF":3.2,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591258","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}