European Journal of Pediatrics最新文献

{"title":"Machine learning models for prediction of continuous positive airway pressure failure and high-flow nasal cannula failure in preterm neonates with respiratory distress.","authors":"Hari Prasath C, P Anil Kumar","doi":"10.1007/s00431-026-07458-5","DOIUrl":"10.1007/s00431-026-07458-5","url":null,"abstract":"<p><p>This study aims to develop and internally validate separate machine learning models predicting continuous positive airway pressure (CPAP) failure and high-flow nasal cannula (HFNC) failure in preterm neonates. This retrospective cohort study included 411 preterm neonates started on non-invasive respiratory support between September 2023 and September 2025, 195 on CPAP and 216 on HFNC. CPAP failure was defined as escalation to invasive mechanical ventilation, HFNC failure as escalation to CPAP. Seven algorithms, LASSO logistic regression, random forest, XGBoost, LightGBM, support vector machine, naive Bayes, and k-nearest neighbors, were compared independently within each stratum using nine clinically selected predictors for CPAP and ten for HFNC, five-fold cross-validation, 1000-fold bootstrap confidence intervals, Platt calibration, decision curve analysis, and SHAP based explainability. Escalation occurred in 34 of 195 CPAP infants (17.4%) and 86 of 216 HFNC infants (39.8%). For CPAP failure, LASSO logistic regression is the most defensible model given the events-per-variable constraint (EPV 3.78), with AUROC 0.849 (95% CI 0.765-0.915). XGBoost showed the highest AUROC point estimate (0.876) but a larger apparent versus cross-validated gap. For HFNC failure, LASSO logistic regression achieved the highest discrimination (AUROC 0.773, 95% CI 0.662-0.837), with risk distributed across maternal chorioamnionitis, recurrent apnea, respiratory rate, and SpO2 trend. Both models showed positive net benefit over treat-all and treat-none strategies across a wide range of threshold probabilities. After Platt scaling, all calibration slopes fell between 0.924 and 1.027.</p><p><strong>Conclusion: </strong> Bedside respiratory, laboratory, and antenatal variables available within 6 h of starting non-invasive support may predict escalation risk in preterm neonates, on internal validation only. CPAP failure and HFNC failure differ in underlying structure and are best served by different predictors and different algorithms. External validation is needed before clinical implementation.</p><p><strong>What is known: </strong>• CPAP failure is linked to FiO2 requirement and RDS severity, with single-algorithm models predicting it in preterm neonates. • HFNC failure predictors come mainly from non-preterm populations, and no machine learning model for it exists in preterm neonates.</p><p><strong>What is new: </strong>• Seven algorithms were compared for CPAP and HFNC failure separately, using SHAP to show how each variable pushes an infant's risk up or down. • SHAP analysis showed CPAP failure risk concentrates around gas exchange status, while HFNC failure risk spreads across inflammation, apnea, and respiratory trend.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 11","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149134894","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":"Smartphone addiction and metabolic health risk in pediatrics.","authors":"Amrit Singh, Sonam Kumari, Asmita Dujawara, Anushka Kulshrestha, Gauri Shandilya, Ananya Sharma","doi":"10.1007/s00431-026-07473-6","DOIUrl":"10.1007/s00431-026-07473-6","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Smartphone ownership among children and adolescents has risen sharply over the past decade, coinciding with a parallel rise in pediatric metabolic disorders, including obesity, hypertension, insulin resistance, and early markers of metabolic syndrome. Whether these two trends are mechanistically related has become a question of growing clinical and public health relevance. This study synthesizes evidence on the association between problematic smartphone use in children and adolescents and metabolic health outcomes, with attention to the behavioral, neurobiological, and psychiatric pathways that may connect the two. Peer-reviewed studies published between 2019 and 2026 were identified through structured searches of PubMed, Scopus, Web of Science, Google Scholar, and IEEE Xplore, using combinations of terms related to smartphone addiction, problematic smartphone use, screen time, and pediatric metabolic outcomes. Fourteen studies meeting predefined eligibility criteria (original research; participants aged 5-18 years; a quantitatively examined association between smartphone use and a metabolic or closely related outcome) constituted the primary evidence base. This base was supplemented with additional targeted literature on diagnostic classification, neurobiology, psychiatric comorbidity, and intervention, cited separately, to address conceptual and clinical gaps identified during peer review. Across the included studies, the prevalence of problematic smartphone use ranged from approximately 22% to 53%, varying by instrument, cutoff score, and cultural context. Problematic use was consistently associated with obesity, hypertension, unfavorable dietary patterns, sleep disruption, and reduced physical activity; evidence for a direct association with insulin resistance was more limited and inconsistent. The COVID-19 pandemic was associated with a marked, temporary increase in both screen time and addiction prevalence. Proposed mechanisms include displacement of physical activity, altered dietary behavior, circadian disruption via melatonin suppression, and dysregulation of reward and stress-response circuitry, occurring within an apparently bidirectional relationship with psychiatric symptoms such as anxiety, depression, and attention-deficit/hyperactivity disorder.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt; Problematic smartphone use appears to be a plausible, modifiable contributor to pediatric metabolic risk, operating through overlapping behavioral, neurobiological, and psychosocial pathways. Because most available evidence is cross-sectional and drawn from a limited number of heterogeneous studies, causal inference is not currently possible, and the associations reported here should be interpreted as correlational rather than confirmed pathogenic relationships. Longitudinal and mechanistic research, alongside coordinated clinical screening and family-centered intervention, is needed to clarify and act on this relationship.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is kn","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 11","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149127062","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":"Assessment of nutritional status of critically Ill pediatric patients and its impact on outcome in a low-and middle-income settings.","authors":"Aya Osama Mohamed, Asmaa Farrag El Sayed, Dina Mohamed Hassan, Shereen A Mohamed","doi":"10.1007/s00431-026-07420-5","DOIUrl":"10.1007/s00431-026-07420-5","url":null,"abstract":"<p><p>Malnutrition among children is a crucial public health issue. Children in critical care units may suffer from nutritional vulnerability due to their underlying disease or barriers to nutrient delivery. Early detection and management of malnutrition may improve clinical outcomes. To evaluate the nutritional status of critically ill children admitted to the pediatric intensive care unit (PICU) and its prognostic outcome. This observational prospective cohort research entailed 250 children admitted to the PICU. All participants were assessed at admission and weekly thereafter for 28 days. Nutritional status was evaluated using anthropometric measurements and the PYMS and STRONGkids scores. The PRISM score was used to assess illness severity on the day of admission. 59.2% of patients were underweight and/or stunted at admission and 59% at day 28 of follow-up. PYMS, and STRONGkids scores were significantly higher among underweight and/or stunted on day 1 and during follow-up (p < 0.05). Multivariable regression analysis demonstrated that admission PRISM score was an independent predictor of mortality (aOR 1.50, 95% CI 1.19-1.88, p = 0.001), mechanical ventilation requirement (aOR 1.18, 95% CI 1.07-1.31, p = 0.001), and feeding interruptions (aOR 1.29, 95% CI 1.16-1.45, p < 0.001). Socioeconomic status was independently associated with feeding interruptions and length of stay.</p><p><strong>Conclusion: </strong> Underweight and/or stunting was common among PICU patients. PYMS and STRONGkids were effective in identifying nutritional risk. After adjustment for confounding variables, clinical severity rather than baseline malnutrition independently predicted adverse clinical outcomes.</p><p><strong>What is known: </strong>• Underweight and/or stunting were prevalent among children admitted to the PICU and this represent a crucial public health problem. • Both PYMS and STRONGkids were useful screening tools for identifying children at risk of malnutrition.</p><p><strong>What is new: </strong>• This study demonstrated that clinical severity and the need for inotropic support were the primary independent predictors of adverse outcomes. • The baseline malnutrition was not independently associated with mortality, mechanical ventilation, feeding interruptions, or length of PICU stay.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 11","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13645988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149127131","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":"Short- versus long-course antibiotic therapy in non-severe CAP in children: a systematic review and meta-analysis.","authors":"Achilleas Klapas, Panagiotis Panagopoulos, Alexandros Makis, Ekaterini Siomou, Fani Ladomenou","doi":"10.1007/s00431-026-07471-8","DOIUrl":"10.1007/s00431-026-07471-8","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Optimizing antibiotic duration for pediatric community-acquired pneumonia (CAP) may reduce treatment burden and support antimicrobial stewardship. Although recent randomized trials and evidence syntheses have reported similar clinical outcomes with shorter antibiotic courses, the effect of treatment duration on adherence-an especially relevant consideration in children-has received comparatively limited systematic evaluation. We therefore aimed to compare treatment effectiveness, medication adherence, and antibiotic-related adverse events between short-course and conventional-duration antibiotic therapy for non-severe CAP in immunocompetent children. PubMed, Cochrane Library, Scopus, ClinicalTrials.gov, and WHO Global Index Medicus were sought through April 25, 2025. Only randomized clinical trials that included immunocompetent children &lt; 18 years with non-severe CAP and compared short-course (≤ 5 days) with longer therapy (&gt; 5 days) were considered. Data extraction and risk of bias (ROB 2) assessment were performed by two independent reviewers. Summary data were extracted by published reports. The principal outcomes were treatment effectiveness, assessed through treatment failure and relapse according to the definitions prespecified by each trial, and medication non-adherence to the active (non-placebo) study drug. Antibiotic-related adverse events were assessed as a secondary outcome. Risk ratios (RRs) with 95% confidence intervals (CIs) were calculated using random-effects models. Two hundred thirty studies were originally screened, after removal of duplicates and 10 trials (n = 8970) met inclusion criteria. No significant differences were found in treatment failure [RR = 1.07 (95% CI, 0.93-1.24), I&lt;sup&gt;2&lt;/sup&gt; = 3%] or relapse [RR = 1.04 (95% CI, 0.72-1.49), I&lt;sup&gt;2&lt;/sup&gt; = 0%]. Shorter regimens markedly reduced non-adherence [RR = 0.35 (95% CI, 0.24-0.50), I&lt;sup&gt;2&lt;/sup&gt; = 54%], the most consistent and clinically meaningful difference. Adverse events were comparable [RR = 0.71 (95% CI, 0.36-1.40), I&lt;sup&gt;2&lt;/sup&gt; = 81%].&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt; Short-course therapy was not associated with significantly different treatment failure or relapse rates compared with longer regimens and was associated with substantially lower non-adherence. These findings support shorter antibiotic courses as a reasonable treatment option for non-severe pediatric CAP, while acknowledging that the present meta-analysis was not designed to formally establish non-inferiority or equivalence.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known: &lt;/strong&gt;• Short-course antibiotic therapy may achieve similar clinical outcomes to conventional longer courses in children with non-severe community-acquired pneumonia. • Medication adherence remains an important challenge in pediatric antibiotic therapy.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is new: &lt;/strong&gt;• This meta-analysis found no significant difference in treatment failure or relapse between short- and long-course therapy. • Short-course therapy ","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 11","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149127068","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":"Irregular follow-up is associated with poorer dietary adherence and iron deficiency in children with celiac disease.","authors":"Nevzat Aykut Bayrak, Nihan Uygur Kulcu, Egemen Tural, Engin Aydin","doi":"10.1007/s00431-026-07463-8","DOIUrl":"10.1007/s00431-026-07463-8","url":null,"abstract":"<p><p>The purpose of this study is to evaluate the association between follow-up regularity and dietary adherence, growth, and micronutrient status in children with celiac disease (CD). In this single-center, prospective observational study, children on a gluten-free diet (GFD) for ≥ 1 year were classified over a fixed 24-month window as regular follow-up (RFU; ≥ 4 visits) or irregular follow-up (IFU; < 4 visits) according to the number of outpatient visits. Adherence was assessed by parent- and child-reported modified Biagi scores and by anti-tissue transglutaminase IgA (TGA) normalization (< 20 RU/mL). Multivariable models were adjusted for age, sex, time since diagnosis, and socioeconomic status (SES). Of 345 children, 204 were RFU and 141 IFU; the median number of visits was 5 (IQR 4-5) versus 2 (1-3), respectively (p < 0.001). Children in the IFU group were older and more often of low SES. Non-normalization of TGA was independently associated with IFU (adjusted odds ratio (aOR): 3.16; 95% CI, 1.97-5.06); each additional visit lowered the odds of non-adherence (aOR, 0.66; 95% CI, 0.57-0.77). IFU was associated with non-strict parent-reported adherence (aOR, 2.20) and iron deficiency (aOR, 1.97). Parent-reported adherence correlated moderately with TGA status (κ = 0.46), whereas child self-report adherence was negligible (κ = 0.05). The lower BMI z-score in the IFU group lost significance after adjustment.Conclusion: More frequent follow-up improved GFD adherence, as reflected by normalized TGA levels; IFU was independently associated with poorer adherence and iron deficiency. Low GFD compliance is most likely among older and low-SES children. For children aged ≥ 10, self-reported adherence is unreliable; parental report with serology is preferable.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 11","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149127049","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":"Multidisciplinary team meetings for severe bronchopulmonary dysplasia: a descriptive study of recommendations, follow-up, and physician satisfaction.","authors":"Anouk Minodier, Brigitte Fauroux, Laurianne Coutier, Céline Delestrain, Sylvain Renolleau, Pierre-Henri Jarreau, Alice Hadchouel","doi":"10.1007/s00431-026-07456-7","DOIUrl":"10.1007/s00431-026-07456-7","url":null,"abstract":"<p><p>Management of severe bronchopulmonary dysplasia (sBPD) remains challenging and poorly standardized. In 2021, France established multidisciplinary team meetings (MDT) dedicated to sBPD patients. This study described discussed patients, their outcomes and physicians' satisfaction. This multicenter retrospective observational and uncontrolled study included patients presented between June 2021 and September 2024 at the MDT. Data were collected from medical records and the RespiFil database. Questionnaires evaluated physicians' satisfaction and patient outcomes. The data of 38 patients, median gestational age 26 weeks and median age at presentation 46 weeks' postmenstrual age, were analyzed. Systemic steroids were administered before 36 weeks in 31/36 (86%) of the patients. Ventilatory weaning was recommended in 23/37 patients (62%). Recommendations were fully followed in 30/36 patients (83%). Satisfaction was rated between 8 and 10/10 on a 10-point scale by 28/30 physicians (93%). Physicians rated the benefit they perceived for their patients between 8 and 10 on a 10-point scale in 27/36 patients (75%). The frequency of the meetings needed to be increased over time to meet the demand of physicians. At a median follow-up of 11 months, 32/38 patients (84%) were reported as clinically improved and 24/34 lived patients (71%) were weaned from ventilatory support and oxygen.</p><p><strong>Conclusion: </strong>This descriptive study shows that sBPD MDT is feasible, well accepted by referring physicians, with high adherence to recommendations. By supporting coordinated and individualized care, they may help harmonize practices across centers. Comparative studies are now needed to evaluate their impact on patient outcomes.</p><p><strong>What is known: </strong>• Management of severe bronchopulmonary dysplasia (sBPD) remains challenging owing to its multifactorial origin and the lack of standardized treatment. • Multidisciplinary team meetings (MDT) are well-established, effective tools in oncology and rare diseases.</p><p><strong>What is new: </strong>• This study is the first multicenter report describing the implementation, feasibility and sustainability of an sBPD-dedicated MDT. • 93% of responding physicians reported high satisfaction, and recommendations were fully followed in 83% of cases supporting the feasibility and acceptability of this model, whose impact on clinical outcomes remains to be prospectively evaluated.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 11","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13638712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149106135","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":"Accuracy of non-invasive smartphone bilirubin measurements on neonates before and during phototherapy.","authors":"Nikolina Zdraveska, Aco Kostovski, Thilo Reich, Deborah K Hill, Lobke M Gierman, Timothy M Bahr","doi":"10.1007/s00431-026-07490-5","DOIUrl":"10.1007/s00431-026-07490-5","url":null,"abstract":"<p><p>Previous publications have reported the accuracy of the Picterus Jaundice Pro (Picterus JP), a smartphone-based medical device app for screening neonatal jaundice prior to phototherapy. The purpose of this study was to evaluate the accuracy of the Picterus JP app before and during phototherapy. Between April 2025 and April 2026, newborns whose total serum bilirubin concentration (TSB) reached or exceeded the American Academy of Pediatrics phototherapy thresholds were enrolled in the study after written informed consent was obtained from their parent or legal guardian. A Picterus JP scan was obtained from the chest of the newborn (within 60 min of the TSB blood sample collection), a light-occlusive patch was placed on the newborn's chest, and phototherapy was initiated. Then, up to five Picterus JP scans per newborn were obtained from the newborn's chest, from the region covered by the phototherapy patch, within one hour of the blood collection for subsequent TSBs. We calculated diagnostic accuracy statistics to summarize the accuracy of Picterus JP. A total of 137 paired Picterus JP-TSB measurements were analyzed. Overall, Picterus JP correlated well with TSB (r = 0.720; bias - 38.5 µmol/L; RMSE 73.7 µmol/L). Restricted to a phototherapy course of ≤ 3 days, correlation was strong before phototherapy (n = 45 measurements; r = 0.849; bias - 46.5 µmol/L; RMSE 65.3 µmol/L) and weaker during phototherapy (n = 83 measurements; r = 0.520; bias - 40.7 µmol/L; RMSE 79.6 µmol/L), although the magnitude of bias and RMSE was similar in both periods. The relative (fractional) decline in Picterus JP during phototherapy correlated well with the relative decline in TSB (n = 97 paired change measurements; r = 0.752), and the direction of the bilirubin trend agreed between methods in 83% of assessed trajectories. A fixed offset correction reduced the bias during phototherapy from - 40.7 to + 5.8 µmol/L.</p><p><strong>Conclusion: </strong>Although the correlation between Picterus JP results and TSB measurements decreased during phototherapy, the direction of change in Picterus JP results almost always agreed with the direction of change in associated TSB measurements. This suggests that Picterus JP may be useful for monitoring bilirubin trends and treatment response during phototherapy, while also providing non-invasive bilirubin assessment before treatment initiation.</p><p><strong>What is known: </strong>• Total serum bilirubin (TSB) is the reference standard for guiding phototherapy but requires invasive blood draws; smartphone-based tools are validated mainly before phototherapy.</p><p><strong>What is new: </strong>• Picterus JP tracked bilirubin trends during phototherapy despite reduced correlation; an offset correction reduced bias, extending validation to severe hyperbilirubinemia.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 11","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149106096","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":"Paediatric biobanking in the era of precision medicine: ethical, regulatory, and scientific challenges from childhood to adulthood.","authors":"Celeste Cagnazzo, Ivana Ferrero, Katia Mareschi, Franca Fagioli","doi":"10.1007/s00431-026-07475-4","DOIUrl":"10.1007/s00431-026-07475-4","url":null,"abstract":"<p><p>Biobanks are increasingly central to precision medicine, particularly in rare diseases and paediatric oncology, where small and molecularly heterogeneous populations make access to high-quality, longitudinally annotated biological material essential. This narrative review examines the scientific value of paediatric biobanking and the ethical, regulatory, and organisational challenges that distinguish it from adult biobanking. Relevant scientific literature, European and Italian regulatory sources, international biobanking standards, and guidance on data protection and research governance were narratively reviewed, with particular attention to paediatric oncology, rare diseases, consent and assent, secondary use, interoperability, and emerging European frameworks. Paediatric biobanks can support biomarker discovery, molecular stratification, investigation of treatment resistance, and future analyses not foreseeable at the time of collection. Their governance is complicated by evolving child autonomy, the significance of dissent, transition to adulthood, future reuse of samples, and the distinction between consent to sample donation and the legal basis for processing associated personal data. Quality management, traceability, interoperable metadata, and controlled access are essential to preserve scientific utility. Emerging frameworks, including the European Health Data Space and EDPB guidance, favour a shift from one-time consent towards accountable life-cycle governance.</p><p><strong>Conclusion: </strong> Paediatric biobanking should be conceived as a longitudinal research infrastructure rather than a storage activity. Sustainable models must integrate evolving autonomy, robust ethical oversight, data protection, quality, interoperability, and responsible secondary use while preserving irreplaceable biological resources for future research.</p><p><strong>What is known: </strong>• Biobanks are essential to precision medicine and are particularly valuable in rare diseases and paediatric cancer. • Paediatric biobanking raises specific issues concerning parental consent, assent, future use, and transition to adulthood.</p><p><strong>What is new: </strong>• Emerging European frameworks support a shift from static consent towards accountable life-cycle governance of samples and data. • A European paediatric sample-data continuum could connect biospecimens, longitudinal clinical information, omics data, and evolving participant preferences across infrastructures.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 11","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149106151","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":"Lung disease in crisponi/cold-induced sweating syndrome type 1: expanding the clinical phenotype spectrum.","authors":"Roberta Onesimo, Cristina De Rose, Nadine Imporporato, Valentina Trevisan, Chiara Leoni, Donato Rigante, Valentina Giorgio, Elisabetta Sforza, Lucrezia Perri, Paola Concolino, Giangiorgio Crisponi, Laura Crisponi, Giuseppe Zampino","doi":"10.1007/s00431-026-07178-w","DOIUrl":"10.1007/s00431-026-07178-w","url":null,"abstract":"<p><p>Crisponi/Cold-Induced Sweating Syndrome Type 1 (CS/CISS1) is an ultra-rare genetic disorder caused by biallelic variants in the cytokine receptor-like factor-1 (CRLF1) gene and is associated with several comorbidities. Comprehensive data on the respiratory phenotype of this condition are lacking despite being associated with high mortality in infancy, often due to severe respiratory complications like aspiration pneumonia and sudden death related to hyperthermic crises. Our study investigates respiratory complications and lung ultrasound characteristics, enhancing the comprehension of the natural history and pathophysiology of the disease. We enrolled 13 individuals (8 children) carrying a biallelic molecular defect of the CRLF1 gene, either in a homozygous or compound heterozygous state. All were of Italian ancestry, with the majority (77%) being Sardinian. The pathogenic variant c.676dup (p.Thr226fs) in exon 4 was confirmed as the most commonly recurrent variant and was identified in 9 of the 13 patients (69%) of our cohort. Over half of the participants exhibited an ultrasound lung pattern suggestive of sonographic interstitial syndrome findings. Fifteen percent had a documented aspiration pneumonia in infancy, which required hospitalization or ventilatory support. Additionally, one adult patient showed bilateral fibrotic findings, which were validated by a CT scan.</p><p><strong>Conclusions: </strong>Respiratory involvement appears to be a frequent and under-investigated feature in patients with CS/CISS1. Although lung ultrasound patterns observed in this study were largely nonspecific, LUS may represent a practical, non-invasive screening tool to identify early morphological lung changes potentially related to recurrent or chronic inflammatory processes.</p><p><strong>What is known: </strong>• Crisponi/Cold-Induced Sweating Syndrome Type 1 (CS/CISS1) is associated with early-life respiratory complications. • Data on the long-term pulmonary involvement in CS/CISS1 patients are insufficiently documented.</p><p><strong>What is new: </strong>• This is the first study to systematically evaluate lung ultrasound (LUS) findings in a cohort of CS/CISS1 patients, across pediatric and adult ages. • We identified recurrent nonspecific interstitial patterns that suggest chronic inflammatory or fibrotic lung involvement, supporting LUS as a feasible screening tool in disease monitoring.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 11","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13638677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149106116","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":"Evaluation of subclinical organ involvement with ultrasound elastography in childhood familial Mediterranean fever: relationships with disease activity, inflammatory markers, colchicine response, and genotype.","authors":"Hande Uslu, Mesude Tosun, Nihal Şahin, Nebahat Zeynep Özaslan, Betül Öksel, Duygu Aydin, Hulusi Ferhat Apaydin, Ece Devrim Altin, Hafize Emine Sönmez","doi":"10.1007/s00431-026-07408-1","DOIUrl":"10.1007/s00431-026-07408-1","url":null,"abstract":"<p><p>This study evaluates multiorgan shear-wave elastography (SWE) in children with familial Mediterranean fever (FMF) during attack-free periods and examines associations with clinical and inflammatory parameters. In this single-center, retrospective cross-sectional case-control study, SWE measurements of the liver, spleen, bilateral kidneys, pancreas, four mesenteric fat regions, and bilateral thyroid lobes were evaluated in 75 children with FMF and 52 matched healthy controls. Adjusted linear regression, generalized estimating equation (GEE), and Benjamini-Hochberg correction were applied. The cohort included 127 children; age, sex, weight, height, and BMI were comparable between groups. After adjustment for age, sex, and BMI, FMF patients showed higher SWE values at all 11 sites: liver (β = 3.25 kPa; 95% CI, 2.55-3.95), right kidney (β = 0.94 kPa; 95% CI, 0.31-1.57), left kidney (β = 1.15 kPa; 95% CI, 0.57-1.74), spleen (β = 1.24 kPa; 95% CI, 0.55-1.93), pancreas (β = 0.88 kPa; 95% CI, 0.21-1.55), mesenteric fat regions (β range, 1.43-2.06 kPa), right thyroid lobe (β = 1.62 kPa; 95% CI, 0.73-2.51), and left thyroid lobe (β = 2.94 kPa; 95% CI, 2.05-3.83). Repeated-measures GEE showed an overall adjusted FMF-control difference of 1.71 kPa and a significant group × organ-site interaction. Exploratory analyses showed no FDR-significant associations with disease duration, diagnostic delay, ISSF score, attack-free CRP/ESR, colchicine responsiveness, or M694V/M694V genotype.</p><p><strong>Conclusion: </strong> Children with FMF had higher multiorgan and mesenteric fat SWE-derived stiffness during attack-free periods. Multiorgan SWE may help evaluate subclinical tissue-level changes in pediatric FMF, but the cross-sectional design, lack of histopathologic validation, and exploratory subgroup analyses preclude causal or therapeutic conclusions.</p><p><strong>What is known: </strong>• Familial Mediterranean fever may be associated with persistent subclinical inflammation during attack-free periods. • Shear-wave elastography can noninvasively quantify tissue stiffness.</p><p><strong>What is new: </strong>• Children with FMF showed higher liver, spleen, kidney, pancreas, thyroid, and mesenteric fat stiffness than controls. • These differences persisted after adjustment for age, sex, and BMI.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"185 11","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149106080","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}