Pediatric Research最新文献

{"title":"Association of DLK1 SNPs with body mass index and plasma lipid levels in children.","authors":"Olga Pomares, Jorge Laborda, Claudia Vales-Villamarín, Iris Pérez-Nadador, Francisco J Mejorado-Molano, Alejandro Parra-Rodríguez, Ignacio Mahillo-Fernández, Leandro Soriano-Guillén, Carmen Garcés","doi":"10.1038/s41390-025-04005-0","DOIUrl":"https://doi.org/10.1038/s41390-025-04005-0","url":null,"abstract":"<p><strong>Background: </strong>The DLK1 human gene encodes for the transmembrane EGF-like repeat-containing protein DLK1, which acts as a modulator of adipogenesis. A role for DLK1 in energy metabolism and lipid homeostasis has been suggested and DLK1 gene variants have been related to pubertal development.</p><p><strong>Objective: </strong>The aim of this study was to uncover DLK1 SNPs in a cohort of children and analyze their relationship with anthropometric and biochemical variables.</p><p><strong>Methods: </strong>Our population-based sample comprises 1237 healthy 6-to-8-year-old Caucasian children. The presence of five DLK1 SNPs (rs1802710, rs876374, rs7155375, rs57098752, and rs7149242) was analyzed by Real-Time PCR, using predesigned TaqMan™ Genotyping Assays.</p><p><strong>Results: </strong>We observed that the SNPs rs1802710 and rs876374 were associated with BMI, and the prevalence of these two SNPs was different in normal-weight children compared to children with obesity. Related to biochemical variables, we found a significant association of the SNPs rs1802710, rs876374, and rs57098752 and their combination with Apo-B plasma concentrations after adjusting by BMI and sex. The SNPs rs1802710 and rs57098752 were also significantly associated with plasma levels of LDL-C and HDL-C, respectively.</p><p><strong>Conclusion: </strong>Our study reveals that DLK1 gene variants may influence both body weight and lipid homeostasis, affecting particularly to the Apo-B biology, in children.</p><p><strong>Impact: </strong>DLK1 polymorphisms are associated with BMI and with lipid levels, independently of BMI, early in life. Our data add to the existing literature the evidence that DLK1 gene variants impact on lipid metabolism. The confirmation at the population level that DLK1 genetic variants are associated with anthropometric and lipid variables sustains the role of DLK1 in obesity and related disorders and should lead to further studies aimed at clarifying this effect.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The diagnostic accuracy of presepsin for late-onset neonatal sepsis: a multicenter prospective cohort study.","authors":"Thomas H Dierikx, Jop Admiraal, Charlotte M Nusman, Henriëtte van Laerhoven, Sophie R D van der Schoor, Tim G J de Meij, Wes Onland, Anton H van Kaam, Douwe H Visser","doi":"10.1038/s41390-025-04008-x","DOIUrl":"https://doi.org/10.1038/s41390-025-04008-x","url":null,"abstract":"<p><strong>Background: </strong>Antibiotic overtreatment in infants is a significant problem, due to lack of accurate diagnostic tools for late-onset neonatal sepsis (LONS). We aimed to investigate the diagnostic accuracy of presepsin for LONS at initial suspicion.</p><p><strong>Methods: </strong>In this multicenter prospective observational cohort study, we consecutively included all term and preterm infants who started on antibiotics empirically for a nosocomial LONS suspicion. Presepsin concentrations were determined at initial LONS suspicion before antibiotic initiation (t = 0), and 12 and 24 h afterwards. Diagnostic accuracy measures for LONS were calculated.</p><p><strong>Results: </strong>A total of 63 episodes of suspected LONS (32 classified as LONS, including 23 culture-positive and 9 culture-negative episodes) in 50 infants were included. Presepsin concentrations were significantly higher in LONS cases compared with non-LONS at all time-points. The AUC for all LONS cases at t = 0 was 0.77 (95% CI 0.66-0.89) and 0.80 (95% CI 0.67-0.92) for culture-positive LONS cases only.</p><p><strong>Conclusion: </strong>Presepsin seems to have insufficient accuracy as single biomarker to serve as a biomarker for ruling out LONS in infants suspected of LONS. Future larger studies are warranted to validate our findings and to investigate the clinical impact of presepsin, in combination with other biomarkers, as diagnostic tool to facilitate decision-making regarding the initiation of antibiotics, thereby supporting antibiotic stewardship.</p><p><strong>Impact: </strong>Presepsin seems to have insufficient accuracy as single biomarker for the decision to treat or not at initial suspicion of late-onset neonatal sepsis. This is the first prospective observational cohort study on the diagnostic accuracy of presepsin for late-onset neonatal sepsis consecutively recruiting all infants suspected of late-onset neonatal sepsis, minimizing bias. Future larger studies are warranted to investigate the clinical impact of presepsin in facilitating decision-making regarding the initiation of antibiotics in infants, thereby supporting antibiotic stewardship.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Neuroserpin normalization by mesenchymal stem cell therapy after encephalopathy of prematurity in neonatal rats.","authors":"Lan-Wan Wang, Chien-Wei Hsiung, Ching-Ping Chang, Mao-Tsun Lin, Shyi-Jou Chen","doi":"10.1038/s41390-025-03889-2","DOIUrl":"https://doi.org/10.1038/s41390-025-03889-2","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Confronting unequal beginnings in middle- and high-income countries.","authors":"Lauren J Klein, Micheal R DeBaun","doi":"10.1038/s41390-025-04017-w","DOIUrl":"https://doi.org/10.1038/s41390-025-04017-w","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Family reflections: psychosocial care in childhood cancer survivorship from a long-term survivor and parent.","authors":"Victoria J Forster, Megan Easton","doi":"10.1038/s41390-025-04002-3","DOIUrl":"https://doi.org/10.1038/s41390-025-04002-3","url":null,"abstract":"<p><p>Fig. 1 Vicky age 8 on treatment for childhood leukemia in London, UK. Fig. 2 Megan and her daughter in hospital in the first week after diagnosis in 2013. Fig. 3 A picture of Megan and her daughter at her daughter's grade 8 graduation in 2024. Fig. 4 recent photo of Vicky. Fig. 5 recent photo of Vicky. Fig. 6 recent photo of Vicky.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-frequency oscillatory ventilation with volume guarantee in infants: a systematic review.","authors":"Wanjiao Liu, Haifeng Zong, Jin Jiang, Chuanzhong Yang, Fang Li","doi":"10.1038/s41390-025-03934-0","DOIUrl":"https://doi.org/10.1038/s41390-025-03934-0","url":null,"abstract":"<p><strong>Background: </strong>This systematic review was designed to assess the efficacy and safety of high-frequency oscillatory ventilation (HFOV) combined with volume guarantee (VG) in infants compared with HFOV alone.</p><p><strong>Methods: </strong>We searched for electronic databases to find studies using HFOV-VG or HFOV for respiratory support in infants from the database creation to October 20, 2024. Two evaluators independently screened the literature, extracted data, and evaluated quality. Meta-analysis was performed using Rev man 5.3 software on survival-free BPD at grades 2 and 3 (SF-BPD), the incidence of BPD, mortality, duration of invasive ventilation, length of hospital stays, and complications in both groups.</p><p><strong>Results: </strong>The review included 11 studies (three randomized controlled trials, one non-randomized controlled trial, and seven observational studies) with 785 participants. Data analysis showed that HFOV-VG could increase SF-BPD in preterm infants (OR 3.15, 95%CI 1.66-5.98) without reducing the overall incidence of BPD compared with HFOV alone. HFOV-VG may offer advantages in shortening the duration of MV and total hospital stay, potentially reducing mortality and the incidence of air leak syndrome.</p><p><strong>Conclusions existing: </strong>Studies showed that HFOV-VG had certain advantages in improving oxygenation and stable ventilation to protect neonatal lungs. HFOV-VG could increase SF-BPD in preterm infants with GA < 32 weeks without reducing the overall incidence of BPD compared with HFOV alone.</p><p><strong>Impact: </strong>Existing evidence suggested that HFOV-VG ventilation strategies could increase SF-BPD in preterm infants with GA < 32 weeks without reducing the overall incidence of BPD compared with HFOV alone. HFOV-VG ventilation strategy has certain advantages in improving oxygenation and stable ventilation to protect neonatal lungs. The effects of HFOV-VG vs. HFOV in neonates remain to be further validated by additional large sample, multicenter RCTs.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The application of magnetic susceptibility separation for measuring cerebral oxygenation in preterm neonates.","authors":"Thomas Gavin Carmichael, Alexander Rauscher, Ruth E Grunau, Alexander Mark Weber","doi":"10.1038/s41390-025-03966-6","DOIUrl":"https://doi.org/10.1038/s41390-025-03966-6","url":null,"abstract":"<p><strong>Background: </strong>Quantitative susceptibility mapping (QSM), a magnetic resonance imaging (MRI) modality sensitive to deoxyhemoglobin, is a promising method for measuring cerebral oxygenation in human neonates. Paramagnetic sources, like deoxyhemoglobin, however, can be obscured by diamagnetic sources such as water and myelin. This study evaluated whether QSM images, or isolated paramagnetic components, are more accurate for measuring oxygenation of cerebral veins of preterm neonates, and explored oxygenation differences between the major cerebral veins.</p><p><strong>Methods: </strong>19 preterm neonates were scanned on at term equivalent age on a 3T MRI using a multi-echo susceptibility-weighted imaging sequence. Susceptibility values were calculated from QSM images to determine oxygen saturation (SvO₂) in the superior sagittal sinus (SSS) and central cerebral veins (CCV). The paramagnetic components of QSM images were isolated, and SvO₂ values were recalculated.</p><p><strong>Results: </strong>The mean SvO₂ values from QSM were 72.4% (SD, 3.4%) for the SSS and 68.7% (SD, 3.5%) for the CCV. SvO₂ values for paramagnetic components were 58.1% (SD, 7.3%) for the SSS and 57.7% (SD, 7.0%) for the CCV.</p><p><strong>Conclusion: </strong>While paramagnetic component decomposition yielded SSS values closer to those found in the literature, it increased variability. No significant oxygenation differences were found between the SSS and CCV, contrasting with prior studies.</p><p><strong>Impact: </strong>This study evaluated the use of QSM and its paramagnetic components to measure cerebral oxygenation in neonates. By comparing susceptibility-derived oxygen saturation (SvO₂) in the superior sagittal sinus (SSS) and central cerebral veins (CCV), it adds to the field of neonatal cerebral oxygenation measurement. Decomposing QSM into paramagnetic components shows potential for improving SvO₂ accuracy, particularly in the SSS, though variability remains a challenge. The results suggest no significant oxygenation difference between the SSS and CCV, contrasting with previous findings, indicating a need for further research on neonatal venous oxygenation.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"School-age child neurodevelopment following antenatal Zika virus exposure.","authors":"Sarah B Mulkey, Regan Andringa-Seed, Elizabeth Corn, Meagan E Williams, Margarita Arroyave-Wessel, Robert H Podolsky, Colleen Peyton, Michael E Msall, Carlos Cure, Madison M Berl","doi":"10.1038/s41390-025-03981-7","DOIUrl":"https://doi.org/10.1038/s41390-025-03981-7","url":null,"abstract":"<p><strong>Background: </strong>Children exposed antenatally to Zika virus (ZIKV) during the 2015-2016 epidemic are now in school; little is known about their neurodevelopment at this age. The objective was to evaluate neurodevelopment of ZIKV-exposed Colombian children compared to non-exposed controls at ages 5-6.</p><p><strong>Methods: </strong>In total, 48 normocephalic children with antenatal ZIKV exposure (Cases) were recruited for a longitudinal cohort study in Atlántico, Colombia. Two age-matched control groups of 118 non-ZIKV-exposed children were recruited from same communities as Cases: 63 born before ZIKV epidemic but experienced COVID-19-related school entry delays, and 55 born post-ZIKV epidemic but started school on time. Multi-domain neurodevelopment was assessed at 5-6 years using standardized measures. Standard regression and proportional odds models were used to compare outcomes. P values were adjusted using the Benjamini-Hochberg false discovery rate (FDR) (p < 0.05).</p><p><strong>Results: </strong>There were no differences in age at assessment between groups. Case Full-Scale IQ scores were lower than both control groups (p = 0.002), driven by visual reasoning (p < 0.001). Controls with school entry delay had more executive control problems and lower adaptive functioning skills than Cases and Controls without school entry delay.</p><p><strong>Conclusions: </strong>ZIKV-exposed children have lower cognitive performance compared to controls. Early childhood experiences can affect pediatric outcomes research.</p><p><strong>Impact: </strong>Normocephalic ZIKV-exposed children have lower full-scale IQ than their unexposed peers from the same communities. Normocephalic children with antenatal ZIKV exposure have differences in neurodevelopment that can impact them long-term. There is a need for continued follow-up of children with antenatal ZIKV exposure to determine long-term effects on higher-order areas of cognitive function.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-organ dysfunction across the neonatal encephalopathy spectrum.","authors":"Lynn Bitar, Rachel L Leon, Yu-Lun Liu, Srinivas Kota, Lina F Chalak","doi":"10.1038/s41390-025-03978-2","DOIUrl":"https://doi.org/10.1038/s41390-025-03978-2","url":null,"abstract":"<p><strong>Background: </strong>Neonatal hypoxic-ischemic encephalopathy (HIE), the leading cause of neonatal encephalopathy (NE), primarily affects the central nervous system and is associated with multi-organ dysfunction (MOD) and long-term complications. Research often focuses on moderate to severe NE, with limited data on mild cases.</p><p><strong>Objective: </strong>To investigate the incidence and severity of MOD in neonates with mild NE and explore its association with HIE severity.</p><p><strong>Methods: </strong>Term neonates with NE related to HIE diagnosis between 2009 and 2023 were included. Sarnat staging was used to classify cases into mild and moderate/severe. MOD was assessed on days 1 and 3 post-birth through echocardiography, troponin levels, creatinine levels, urine output, and liver function tests.</p><p><strong>Results: </strong>Among 452 neonates with HIE (185 mild, 267 moderate/severe), 57% had liver injury, 55% cardiac injury, and 44% kidney injury in the first day of life. Neonates with mild NE had a MOD rate of 23%, lower than the 37% observed in moderate/severe (p = 0.002). When compared to mild, infants with moderate/severe NE had significantly higher incidences of cardiac (69% vs. 31%; p < 0.001), renal (49% vs. 38%; p = 0.067), and hepatic abnormalities (65% vs. 45%; p = 0.005).</p><p><strong>Conclusions: </strong>This study highlights the risk of extra-cranial organ injury even in infants with mild NE, stressing the importance of monitoring all regardless of severity.</p><p><strong>Impact: </strong>Comprehensive study prospectively evaluating end-organ dysfunction in a cohort of neonates diagnosed with mild, moderate, and severe NE.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.","authors":"Svetlana Fetisova, Olesya Melnik, Elena Vasichkina, Tatyana Vershinina, Olga Kofeynikova, Alexandra Kozyreva, Yulia Fomicheva, Polina Sokolnikova, Sergey Zhuk, Tatyana Pervunina, Anna Kostareva","doi":"10.1038/s41390-025-03989-z","DOIUrl":"https://doi.org/10.1038/s41390-025-03989-z","url":null,"abstract":"<p><strong>Background: </strong>Hypertrophic cardiomyopathy (HCM) presents a wide range of clinical scenarios depending on the age of manifestation, with a less favorable prognosis in children. The genetic spectrum and clinical causes of HCM diagnosed before one year of age is rarely reported.</p><p><strong>Methods: </strong>We analyzed the genetic causes and genotype-phenotype correlations in 68 children diagnosed with HCM during the first year of life. Genetic analysis was performed using targeted gene sequencing (39 HCM-related genes), followed by whole-exome sequencing for genotype-negative cases. The genetic data were correlated with clinical characteristics, disease progression, and prognosis.</p><p><strong>Results: </strong>The overall genotype-positive rate was 81%, with an equal proportion of sarcomeric (29%) and RAS-related genetic cases (29%). Gestational diabetes in mothers was more frequently observed in children with variants in Z-disc-related genes. Overall, one year-survival rate from all causes was 91.2%, with the best survival outcomes associated with sarcomeric and Z-disk-related gene variants.</p><p><strong>Conclusion: </strong>HCM manifesting in children before one year of age showed an approximately equal proportion of sarcomeric and RAS cascade-related cases. A more favorable prognosis was associated with sarcomeric mutations; whereas metabolic gene-related HCM cases were characterized by the highest one-and five-year mortality due to heart failure.</p><p><strong>Impact: </strong>We analyzed the genetic causes and genotype-phenotype correlations in 68 children diagnosed with HCM during the first year of life. Patients with sarcomeric mutations demonstrated a more favorable prognosis, whereas metabolic gene-related HCM cases were the highest one- and five-year mortality rates due to HF. We identified several factors associated with unfavorable outcomes, including LV thickness, HF class, elevated troponin, increased NT-proBNP levels, and RV hypertrophy. We proposed several new and previously unreported genes, such as ROBO4 and KMT2D, as potentially causative for infantile HCM. The true role of these genes in this disease requires confirmation.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}