Italian Journal of Pediatrics最新文献

{"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}

{"title":"Intraventricular haemorrhage, associated factors and mortality among very low birth weight neonates admitted at Muhimbili National Hospital, Dar es Salaam, Tanzania: a prospective cohort study.","authors":"Happiness Malyas, Lulu Chirande, Lilian Salingwa, Evelyne Assenga","doi":"10.1186/s13052-025-01927-7","DOIUrl":"10.1186/s13052-025-01927-7","url":null,"abstract":"<p><strong>Background: </strong>Intraventricular hemorrhage (IVH) is a serious complication of prematurity with a potential impact on morbidity and mortality particularly in very low birth weight neonates. Despite advances in neonatal care over recent years, there is no recent data regarding IVH in our setting. This study aimed to determine the proportion of IVH, its associated factors, and mortality at Muhimbili National Hospital (MNH).</p><p><strong>Methods: </strong>A hospital-based prospective cohort study was conducted among preterm very low birth weight neonates admitted at MNH. Data was obtained from interviews, physical examination, review of maternal antenatal cards, and neonatal records. Cranial ultrasound was done on day 3 and day 7 of life to determine the presence and severity of IVH. Mortality of neonates was determined on day 7. Data were summarised using frequencies, percentages, median, and interquartile range. Chi-square and Fisher's exact were used to measure the association between categorical variables. Variables found to be significantly associated with IVH were analysed by Poisson regression. A p-value of 0.05 or less was considered statistically significant.</p><p><strong>Results: </strong>The proportion of VLBW neonates with IVH was 22.9% with grade 1 being the most prevalent. The majority of IVH (74.7%) occurred within the first 3 days of life. Factors found to increase the risk of IVH in the univariate analysis were gestational age, mode of delivery, respiratory distress syndrome, hypothermia, early-onset sepsis, use of inotropes, thrombocytopenia and mechanical ventilation. However, none of these factors were independent predictors of IVH in multivariate Poisson regression analysis. Mortality of VLBW neonates with IVH was significantly higher than their counterparts without IVH (RR = 2,95% CI (1.25-3.34).</p><p><strong>Conclusions: </strong>IVH is common among VLBW neonates most of which occurred by day 3 of life. The risk of Mortality was two times higher among VLBW neonates with IVH compared to those without IVH. Further research should be conducted to explore predictors of mortality and long-term outcome of VLBW neonates with IVH.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"213"},"PeriodicalIF":3.2,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591257","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 lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male.","authors":"Nadia Faelli, Federica Chironi, Beatrice Andrenacci, Maria Francesca Patria, Stefano Ferrero, Irene Borzani, Costanza Pucci, Daniela Civeriati, Mara Lelii, Barbara Madini, Alessia Rocchi, Valeria Daccò","doi":"10.1186/s13052-025-02018-3","DOIUrl":"10.1186/s13052-025-02018-3","url":null,"abstract":"<p><strong>Background: </strong>Childhood interstitial lung disease (chILD) encompasses a heterogeneous group of rare disorders characterized by respiratory distress, hypoxemia, exercise intolerance, and distinctive radiological findings. Despite the variable age of onset, these conditions often present with overlapping symptoms and variable progression, even with identical genetic mutations. Surfactant protein deficiencies fall under the category of chILD, with Surfactant Protein-C (SP-C) deficiency posing significant diagnostic challenges due to its rarity and the variable severity of clinical presentation.</p><p><strong>Case presentation: </strong>We present the case of a 15-year-old male from Senegal who recently arrived in Italy, presenting with severe respiratory distress and hypoxemia. The patient, born full-term, had a long history of chronic cough, recurrent respiratory distress, and poor growth since early infancy. Upon hospitalization, he tested positive for SARS-CoV-2 and exhibited signs of chronic respiratory failure and severe malnutrition. An extensive diagnostic work-up, including a chest CT scan, revealed small cystic-like air spaces and diffuse ground-glass opacities. Whole-exome sequencing confirmed the diagnosis of SP-C deficiency by identifying a heterozygous missense mutation (c.218t>C, Ile73Thr) in the third exon of the SFTPC gene. Treatment with steroids, azithromycin and hydroxychloroquine was initiated. Despite pharmacological treatments, the patient remained oxygen dependent due to the severity of this condition and required long-term bilevel non-invasive ventilatory support.</p><p><strong>Conclusions: </strong>This case provides insight into the natural course of untreated child, specifically SP-C deficiency, enhancing our understanding of its manifestations and progression. The lack of standardized treatments underscores the critical need for increased awareness among physicians of this rare but potentially life-threatening condition, enabling early diagnosis and timely therapeutic interventions.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"212"},"PeriodicalIF":3.2,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583929","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":"Meta-analysis of TB & HIV co-infection mortality rate in sub-Saharan African children, youth, and adolescents.","authors":"Fassikaw Kebede Bizuneh, Tsehay Kebede Bizuneh, Getaye Tizazu Biwota, Biruk Beletew Abate, Tilahun Gizaw Ayenew","doi":"10.1186/s13052-025-02019-2","DOIUrl":"10.1186/s13052-025-02019-2","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Despite the effectiveness of antiretroviral treatment (ART) in reducing morbidity and mortality, children and adolescents with co-infections face an elevated risk of death due to their young age and compromised immune systems. While risk factors for tuberculosis (TB) and adverse TB outcomes in HIV-infected adults are well-documented for mortality estimation, understanding mortality risks among HIV-infected children and adolescents, especially in the era of test and treatment and universal ART for all HIV-infected persons, remains limited. This study aimed to estimate the mortality rate among TB and HIV-co-infected children in Sub-Saharan African countries using SRM.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We systematically searched relevant studies from seven international electronic databases. Articles were searched using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Article searching included six electronic databases including PubMed/MEDLINE (N = 1287), Scopus (N = 447), Web of Science (N = 174), Science Direct (N = 749, Cochran (N = 57), and Google Scholar and research repository bases searching (N = 42). The quality of primary studies was evaluated using Joanna Briggs Institute (JBI) checklist. The pooled mortality rate was estimated using a weighted inverse variance random-effect meta-analysis. Heterogeneity among studies was assessed using Cochran's Q test and estimated using I2 statistic. This document is registered in Prospero (CRD420251012913).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Result: &lt;/strong&gt;In this SRM, 16 individual studies were included. During the co-infected mortality screening of 5,098 participants, 657 deaths were reported after co-treatment started. The pooled mortality burden was estimated at 12.96% (95% CI: 8.94 to 16.98, I2 = 92.6%, P = 0.001). The majority of TB co-infected cases were newly diagnosed after ART started. The final weighted inverse variance random-effect regression indicated WHO stages III and IV (pooled HR = 4.34), poor/ fair ART adherence (pooled HR = 3.11), missed Isoniazid preventive therapy (IPT) (pooled HR = 3.07), hemoglobin levels ≤ 10 mg/dL (pooled HR = 2.84), bedridden functional status (pooled HR = 3.19), below threshold CD4 count (pooled HR = 1.80), and missed cotrimoxazole preventive therapy (CPT) (pooled AOR = 1.58) were predictors of premature death during co-infection.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;In this review, the overall pooled burden of mortality in HIV-infected children in SSA countries was high compared with the End TB Strategy target estimation. Significant predictors of mortality included WHO clinical stages III and IV, poor or fair ART adherence, missed Isoniazid preventive therapy (IPT), and hemoglobin levels ≤ 10 mg/dL. Therefore, counseling on antiretroviral therapy adherence should be strengthened; early screening and treating of anemia, screening and scaling up of IPT, critical ART drug, and nutritional counseling should be don","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"210"},"PeriodicalIF":3.2,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12232751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575492","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":"Accidental dexmedetomidine overdose in preterm newborns: a report of 3 cases.","authors":"Giulia Paviotti, Mariabeatrice D'Agostini, Isabella Mauro, Federica Bortolotti, Rossella Gottardo, Carla Pittini","doi":"10.1186/s13052-025-02060-1","DOIUrl":"10.1186/s13052-025-02060-1","url":null,"abstract":"<p><strong>Background: </strong>Dexmedetomidine use in neonatal units is increasing. Data on its safety are still limited. There are no previous reports of clinical presentation of dexmedetomidine overdose in newborns.</p><p><strong>Case presentation: </strong>Three babies simultaneously developed a similar clinical picture of recurrent apneas, a typical \"gasping\" breathing pattern, irritability followed by hypotonia and hyporeactivity, hyperglycaemia, hypocapnia, increase in lactates and a suppression-burst pattern on CFM/EEG. Babies required intubation and mechanical ventilation due to poor respiratory effort. Symptoms resolved completely in a few hours. Dexmedetomidine was administered enterally by a nasogastric tube in place of caffeine due to \"look alike\" medication error. Dexmedetomidine was retrieved in biological samples. Babies were developing regularly at post-discharge follow up visits.</p><p><strong>Conclusion: </strong>Dexmedetomidine overdose due to medication error is possible in newborns and should be suspected in case of clinical presentations similar to the one we reported. Measures should be implemented in neonatal units for a safe use of dexmedetomidine.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"211"},"PeriodicalIF":3.2,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12232678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575491","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":"Early diagnosed Zaki syndrome: identification of two novel WLS variants and a literature review.","authors":"Anran Tian, Sujuan Li, Furong Liang, Minglan Yao, Niusha Mostafavi, Yingying Li, Xiaoping Luo, Cai Zhang","doi":"10.1186/s13052-025-02067-8","DOIUrl":"10.1186/s13052-025-02067-8","url":null,"abstract":"<p><strong>Background: </strong>Zaki syndrome is an autosomal recessive disorder caused by pathogenic variants in the WLS gene, which is essential for Wnt signaling. Altered Wnt signaling disrupts fetal development, organ formation, and tissue regeneration, leading to bone abnormalities and distinctive facial features. Key clinical characteristics of Zaki syndrome include specific facial features, microcephaly, skeletal anomalies, and eye malformations. However, the identification and diagnosis of Zaki syndrome remain challenging.</p><p><strong>Methods: </strong>The prenatal data and clinical information of a patient suspected of Zaki syndrome were retrospectively collected. Genetic testing and functional analysis were conducted to confirm the diagnosis of Zaki syndrome. Additionally, we conducted a literature search and review on Zaki syndrome.</p><p><strong>Results: </strong>A missense variant c.271G > A (p.Val91Met) and a splice site variant c.1279-1G > C in the WLS gene were identified. The diagnosis of Zaki syndrome was confirmed through genetic analysis and functional studies. Through the literature review, the clinical features of Zaki syndrome were refined. Further genotype-phenotype analysis suggested possible links between variant location and clinical features. Missense variants in the transmembrane region were associated with more cases of wide mouth and fewer cases of long fingers or toes. Variants near the ER signaling motif appeared more often with broad distal phalanges of the fingers.</p><p><strong>Conclusion: </strong>Our study expanded the genetic and phenotypic spectrum of Zaki syndrome. It provided new insights into the prenatal and postnatal impact of WLS mutations and highlighted the early identification and intervention for Zaki syndrome.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"209"},"PeriodicalIF":3.2,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12229024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144567370","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":"Case report: anti-fibrillarin autoantibodies induced by viral molecular mimicry in a paediatric patient.","authors":"Chiara Autilio, Raffaele Pecoraro, Vito Pafundi, Sergio Manieri, Vincenzo Tipo, Luigi Martemucci, Teresa Carbone","doi":"10.1186/s13052-025-02029-0","DOIUrl":"10.1186/s13052-025-02029-0","url":null,"abstract":"<p><strong>Background: </strong>Anti-fibrillarin autoantibodies (AFA) as serological hallmarks of systemic sclerosis, mainly react with epitopes arranged in the NH2-(aa-1-80) and COOH-terminal-(aa-276-321)-domains of fibrillarin. Interestingly, the fibrillarin NH2-hexapeptide sequence is shared with an Epstein-Barr-virus (EBV)-encoded nuclear antigen.</p><p><strong>Case presentation: </strong>We herein report a case of a 14-year-old girl presenting with a history of vomiting, sore throat, arthralgias and fever. Laboratory tests revealed leukocytosis, an increased level of CRP, transaminases and total/direct bilirubin. On further investigation, a positivity of ANA testing showing a clumpy nucleolar indirect immunofluorescence (AC-9) pattern on HEp-2000 substrate, due to anti-fibrillarin antibodies, was found. Concomitantly, high concentrations of EBV-VCA-IgM and a slight increase of EBV-VCA-IgG were detected, helping establish a diagnosis of ongoing EBV infection. After a follow-up of six months, all autoimmunity tests were repeated, and together with infection resolution, the negativity of ANA was determined, confirming the transient nature of the autoimmune phenomenon.</p><p><strong>Conclusions: </strong>Our findings confirm how molecular mimicry plays an important role in the viral-induced autoimmunity. Given the significant homology between fibrillarin and EBV protein sequences, caution in interpreting AFA positivity is suggested, especially in pediatric patients without clinical evidences of an autoimmune condition, and a simultaneous screening for EBV infections is recommended.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"208"},"PeriodicalIF":3.2,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12232200/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144560113","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":"Inhaled nitric oxide therapy in preterm infants born before 34 weeks of gestation: a nationwide multicenter study.","authors":"Rui-Hua Ba, Lian Wang, Sheng-Qian Huang, Bao-Ying Feng, Mu-Lin Yao, Jing Zhang, Yao Zhu, Guo-Bao Liang, Zhi Zheng, Ling Liu, Qiu-Fen Wei, Li Ma, Jian Mao, Xin-Zhu Lin","doi":"10.1186/s13052-025-02035-2","DOIUrl":"10.1186/s13052-025-02035-2","url":null,"abstract":"<p><strong>Background: </strong>Despite the lack of consensus, the use of inhaled nitric oxide (iNO) in preterm infants with a gestational age (GA) of less than 34 weeks has been increasing in recent years. At present, there are no multi-center studies in China on the use of iNO in this population. This study aims to investigate the use of iNO in preterm infants under 34 weeks of gestation over the past 10 years in China, and provides evidence-based medical proof for the use of iNO in these neonates.</p><p><strong>Methods: </strong>Using a retrospective study method, clinical data were collected from infants with a GA of less than 34 weeks who received iNO therapy in the neonatal units of five tertiary hospitals in China from January 2013 to December 2022. The infants were divided into two groups: Group A (2013-2017) and Group B (2018-2022). The differences in clinical characteristics, iNO use, and short-term outcomes between the two groups were analyzed.</p><p><strong>Results: </strong>Over the past decade, the use of iNO in preterm infants with a GA of less than 34 weeks has increased gradually, with a more pronounced rise in its use among preterm infants born at 24-27 weeks. The proportion of infants receiving iNO therapy has increased from 1.23% (Group A) to 2.62% (Group B). Compared to Group A, the infants in Group B who received iNO therapy had a smaller GA and lower birth weight. The initial and maximum doses of iNO in Group B were higher (10.0 ppm vs. 8.0 ppm, 15.0 ppm vs. 9.0 ppm). More than half of the extremely preterm infants (EPI) and extremely low birth weight infants (ELBWI) died in both groups. In preterm infants with a GA of 32-33 weeks who were treated with iNO, the case fatality rate was significantly lower in Group B compared to Group A (9.1% vs. 28.2%).</p><p><strong>Conclusion: </strong>The use of iNO in preterm infants with a GA of < 34 weeks has increased over the past 10 years. The treatment strategy for iNO has become more aggressive, and the observed reduction in mortality among relatively older preterm infants (32-33 weeks GA) may be linked to increased iNO utilization and higher dosing regimens. Notably, the case fatality rate among EPI and ELBWI remains elevated throughout the study period, with no statistically significant differences observed between the two groups. Given the benefits and risks of iNO therapy, routine use in EPI and ELBWI may not be advisable.</p><p><strong>Trial registration: </strong>This article is a retrospective registered study, registered under the number ChiCTR2200066935 on December 21, 2022.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"207"},"PeriodicalIF":3.2,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12232049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144560114","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":"Dynamic analysis of pathogenic distribution and drug resistance mechanism in neonatal suppurative meningitis: a retrospective study.","authors":"Lu He, Muchun Yu, Zhihong Sun, Congcong Zhao, Huiqing Sun","doi":"10.1186/s13052-025-02032-5","DOIUrl":"10.1186/s13052-025-02032-5","url":null,"abstract":"<p><strong>Background: </strong>Neonatal purulent meningitis is a purulent bacterial infection associated with high morbidity and mortality. Conventional antibiotics are becoming less effective due to increasing drug resistance. Moreover, there are variations in the disease-causing bacterial species according to regions, with the pathogens undergoing continuous evolution. Therefore, this study aimed to compare and analyze dynamic changes of pathogenic distribution and drug resistance mechanisms in neonatal suppurative meningitis, emphasize the importance of continuous microbiological surveillance and epidemiological monitoring to guide antimicrobial stewardship and optimize antibiotic treatment strategies, ultimately reducing neonatal morbidity and mortality.</p><p><strong>Methods: </strong>We retrospectively analyzed newborns diagnosed with suppurative meningitis having positive cerebrospinal fluid cultures between January 2017 and December 2022. Pathogenic distribution and drug resistance mechanisms were analyzed among the years and compared between preterm and full-term neonates.</p><p><strong>Results: </strong>Among the 224 cases of neonatal suppurative meningitis with positive cerebrospinal fluid cultures, the highest number of cases occurred in 2018 and the lowest in 2020. The age of onset in newborns exhibited variation, with the highest recorded in 2017 and the lowest in 2021. Bacterial species constituting significant proportions of the etiological distribution were Staphylococcus epidermidis (17.4%), Klebsiella pneumoniae (17.0%), Escherichia coli (15.2%), and Enterococcus faecium (8.0%). Among them, K. pneumoniae showed significant differences in proportion across the years (P = 0.025). Regarding drug-resistant bacteria, carbapenem-resistant Enterobacteriaceae (CRE) and methicillin-resistant coagulase-negative staphylococci (MRCNS) were significantly different between the years (P = 0.016 and P = 0.031, respectively). The highest proportion of drug resistance was observed in MRCNS (22.8%), followed by CRE (16.5%).</p><p><strong>Conclusions: </strong>The incidence of neonatal suppurative meningitis decreased annually from 2020 to 2022 (following the COVID-19 pandemic). The incidences of Enterococcus faecium was higher before the pandemic, whereas that of MRCNS increased after the epidemic. There were no methicillin-resistant Staphylococcus aureus resistant bacteria after the pandemic. After 2019, the overall incidence of drug-resistant bacteria decreased every year, and the pandemic affected the distribution of pathogens and drug-resistant bacteria.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"206"},"PeriodicalIF":3.2,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12225130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144553565","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}