Frontiers in Pediatrics最新文献

{"title":"Wheelchair use confidence scale for Arab pediatric manual wheelchair users: preliminary evaluation of its measurement properties.","authors":"Hassan Izzeddin Sarsak, Paula W Rushton","doi":"10.3389/fped.2025.1522475","DOIUrl":"10.3389/fped.2025.1522475","url":null,"abstract":"<p><strong>Introduction: </strong>This study translated the pediatric Wheelchair Use Confidence Scale for Manual Wheelchair Users (WheelCon-M-P) into Arabic (WheelCon-M-A-P) and evaluated whether the translation produced scores similar to the original English version.</p><p><strong>Methods: </strong>The English version was first translated into Arabic and then verified by back translation method by expert committee in the field of rehabilitation and wheelchair service provision. The final versions were administered to assess confidence with manual wheelchair use among children. Each participant was asked to complete both the WheelCon-M-P English version and the WheelCon-M-A-P Arabic version in a random sequence. Kappa statistics were used to quantify the level of agreement between scores obtained from both versions.</p><p><strong>Results: </strong>Participants (<i>n</i> = 48) had an average age of 14.2 years, were all bilingual, and 54% were male. Kappa agreement obtained was 0.54 (95% confidence interval, 0.49-0.62) indicating significant moderate agreement between the two versions (<i>p</i> < 0.000).</p><p><strong>Discussion: </strong>This study provides preliminary evidence of a valid WheelCon-M-A-P to assess confidence with manual wheelchair use among Arabic-speaking children. Future studies to further test its psychometric properties are crucial.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1522475"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11905934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624361","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":"Machine learning-based prediction of mortality in pediatric trauma patients.","authors":"Alex Deleon, Anish Murala, Isabelle Decker, Karthik Rajasekaran, Alvaro Moreira","doi":"10.3389/fped.2025.1522845","DOIUrl":"10.3389/fped.2025.1522845","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to develop a predictive model for mortality outcomes among pediatric trauma patients using machine learning (ML) algorithms.</p><p><strong>Methods: </strong>We extracted data on a cohort of pediatric trauma patients (18 years and younger) from the National Trauma Data Bank (NTDB). The main aim was to identify clinical and physiologic variables that could serve as predictors for pediatric trauma mortality. Data was split into a development cohort (70%) to build four ML models and then tested in a validation cohort (30%). The area under the receiver operating characteristic curve (AUC) was used to assess each model's performance.</p><p><strong>Results: </strong>In 510,381 children, the gross mortality rate was 1.6% (<i>n</i> = 8,250). Most subjects were male (67%, <i>n</i> = 342,571) and white (62%, <i>n</i> = 315,178). The AUCs of the four models ranged from 92.7 to 97.7 with XGBoost demonstrating the highest AUC. XGBoost demonstrated the highest accuracy of 97.7%.</p><p><strong>Conclusion: </strong>Machine learning algorithms can be effectively utilized to build an accurate pediatric mortality prediction model that leverages variables easily obtained upon trauma admission.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1522845"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11905922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624226","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":"Serum inflammatory factors, vitamin D levels, and asthma severity in children with comorbid asthma and obesity/overweight: a comparative study.","authors":"Wan-Yu Jiang, Rong-Hong Jiao, Su-Li Ma, Jin-Sheng Dai, Hai-Feng Zhu, Meng-Ya Wu, Yan-Ran Che, Lei Zhang, Xiao-Yuan Ding","doi":"10.3389/fped.2025.1439841","DOIUrl":"10.3389/fped.2025.1439841","url":null,"abstract":"<p><strong>Objective: </strong>To investigate serum inflammatory factors, vitamin D levels, and asthma severity in children with comorbid asthma and obesity/overweight, compared with those with asthma or obesity/overweight alone.</p><p><strong>Methods: </strong>This retrospective comparative study included children suffering from asthma alone, asthma combined with obesity/overweight, or obesity/overweight alone at Shanghai Pudong New Area People's Hospital between January 2020 and December 2021.</p><p><strong>Results: </strong>A total of 168 children (mean age: 4.32 ± 1.64 years; 117 males) were included. Compared with children with asthma alone (<i>n</i> = 56), those with comorbid asthma and obesity/overweight (<i>n</i> = 56) exhibited higher levels of serum levels of interleukin 6 (IL-6) (35.75 ± 24.56 vs. 15.40 ± 19.67), TNF-α (15.44 ± 7.35 vs. 12.16 ± 7.24), and leptin (3.89 ± 3.81 vs. 1.27 ± 2.31), and lower levels of 25-hydroxycholecalciferol (25-(OH) D₃) (26.03 ± 10.77 vs. 37.15 ± 13.35), IL-10 (8.69 ± 2.76 vs. 15.32 ± 6.28), and IL-13 (449.40 ± 315.37 vs. 605.27 ± 351.02) (all <i>P</i> < 0.05). Compared with children with obese/overweight alone (<i>n</i> = 56), those with comorbid asthma and obesity/overweight had lower IL-10 (8.69 ± 2.76 vs. 12.29 ± 6.61) and higher IL-6 (35.75 ± 24.56 vs. 20.53 ± 17.07), IL-13 (449.40 ± 315.37 vs. 309.47 ± 257.45), and leptin (3.89 ± 3.81 vs. 2.48 ± 3.52) (all <i>P</i> < 0.05). Children with comorbid asthma and obesity/overweight showed higher Preschool Respiratory Assessment Measure (PRAM) scores (3.14 ± 2.40 vs. 1.93 ± 1.02, <i>P</i> = 0.008) and longer hospital stays (5.96 ± 1.25 vs. 5.29 ± 1.36 days, <i>P</i> = 0.007) compared to those with asthma alone.</p><p><strong>Conclusions: </strong>Significant differences were observed in IL-6, IL-10, IL-13, 25-(OH) D₃ levels, and leptin among children with asthma combined with obesity/overweight and those with asthma or obesity/overweight alone. Children with obesity/overweight alone displayed more severe clinical manifestations and longer hospital stays compared with those with asthma alone.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1439841"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624358","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":"Eliglustat substrate reduction therapy in children with Gaucher disease type 1.","authors":"Noor Ul Ain, Armaan Saith, Audrey Ruan, Ruhua Yang, Aaron Burton, Pramod K Mistry","doi":"10.3389/fped.2025.1543136","DOIUrl":"10.3389/fped.2025.1543136","url":null,"abstract":"<p><strong>Importance: </strong>Gaucher disease (GD) is a rare lysosomal storage disorder with limited treatment options for pediatric patients. Oral substrate reduction therapy (SRT) with eliglustat offers a potential alternative, particularly for those with barriers to enzyme replacement therapy (ERT).</p><p><strong>Objective: </strong>Evaluate the safety and efficacy of eliglustat SRT in pediatric patients with type 1 Gaucher disease (GD1), both as initial therapy and as a switch from intravenous ERT.</p><p><strong>Design: </strong>A prospective case series was conducted from 2017 to 2024.</p><p><strong>Setting: </strong>Yale's National Gaucher Disease Treatment Center, New Haven, CT, United States.</p><p><strong>Participants: </strong>Fourteen pediatric GD1 patients with significant barriers to receiving ERT.</p><p><strong>Intervention: </strong>Eliglustat SRT was dosed pharmacogenomically based on CYP2D6 metabolizer status.</p><p><strong>Primary outcomes and measures: </strong>Primary outcomes included safety and efficacy in reversing indicators of disease activity. Secondary outcomes involved changes in patient and parent-reported quality of life, assessed using PROMIS questionnaires.</p><p><strong>Results: </strong>Eliglustat was initiated at a mean age of 12.5 years (range: 6-17 years) and administered for a mean duration of 3.6 years (range: 1-7 years). All patients remained on treatment and exhibited sustained reductions in glucosylsphingosine (GlcSph) levels compared to baseline (<i>p</i> = 0.005). Other disease indicators demonstrated corresponding improvements. Adverse effects were limited to transient gastroesophageal reflux in 3/14 patients (21%). Serial electrocardiograms (EKGs) were normal. Growth and developmental milestones were appropriate for age in all patients. Patients and their parents reported a global improvement in quality of life.</p><p><strong>Conclusions: </strong>Eliglustat demonstrated significant clinical benefits in pediatric GD1 patients, as evidenced by reductions in GlcSph levels and other disease indicators. The therapy showed a favorable safety profile comparable to that observed in adults. These findings suggest eliglustat is a promising therapeutic option for pediatric GD1 patients, providing an effective alternative to ERT.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1543136"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624295","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 physical exercise interventions on social, behavioral, and motor skills in children with autism: a systematic review and meta-analysis of randomized controlled trials.","authors":"YanAn Wang, Guoping Qian, Sujie Mao, Shikun Zhang","doi":"10.3389/fped.2025.1475019","DOIUrl":"10.3389/fped.2025.1475019","url":null,"abstract":"<p><strong>Background: </strong>Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by social impairments, sensory processing issues, repetitive behavior patterns, motor abnormalities, and executive function impairments.</p><p><strong>Objective: </strong>To systematically review and meta-analyze the effects of various exercise modalities on flexibility and cognitive control, social skills, behavioral problems, motor skills, and coordination in children with ASD, providing scientific evidence for clinical practice to guide effective exercise interventions for children with ASD.</p><p><strong>Methods: </strong>Literature searches were conducted in PubMed, EMbase, Cochrane Library, EBSCOhost, and Web of Science databases, covering the period from database inception to February 15, 2024. Inclusion criteria included studies involving children with ASD, any form of exercise intervention, reporting at least one ASD-related outcome, and designed as randomized controlled trials (RCTs) or quasi-experimental studies. Exclusion criteria included reviews, conference abstracts, commentary articles, and studies lacking sufficient statistical data for meta-analysis. Study quality was assessed using the PEDro scale. Effect sizes were calculated using standardized mean differences (SMD). Heterogeneity was assessed with the <i>I</i> ² statistic. Multiple subgroup analyses were conducted, and publication bias was evaluated using Begg's Test and Egger's Test.</p><p><strong>Results: </strong>23 RCTs were included in this study, showing positive effects of exercise interventions in various domains.Upper grade students showed significant improvement in flexibility and cognitive control (SMD = -0.282, <i>p</i> = 0.161). Lower grade children showed the most significant improvement in motor skills and coordination (SMD = 0.475, <i>p</i> = 0.043). Preschool children showed significant enhancement in social skills (SMD = 0.312, <i>p</i> = 0.041). Behavioral problems improved significantly across all age groups (SMD = -0.674, <i>p <</i> 0.001). Martial arts and ball games were particularly effective in enhancing these domains, and appropriate periodic exercise interventions effectively improved various abilities in children with ASD. Results varied across different ages and intervention types.</p><p><strong>Conclusion: </strong>Exercise interventions significantly improve flexibility, cognitive control, motor skills, coordination, social skills, and behavioral problems in children with ASD. This study supports exercise interventions as an effective method to enhance multiple abilities in children with ASD and emphasizes the importance of designing personalized intervention programs tailored to different ages and needs. Future research should focus on larger sample sizes and long-term follow-ups to confirm the sustainability and generalizability of intervention effects.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1475019"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624359","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":"Caffeine use in preterm neonates: national insights into Turkish NICU practices.","authors":"Sezin Unal, Serdar Beken, Deniz Anuk Ince, Ozden Turan, Ayse Korkmaz Toygar, Ayse Ecevit, Abdullah Baris Akcan, Mustafa Ali Akın, Selma Aktas, Nukhet Aladag Ciftdemir, Emel Altuncu, Huseyin Altunhan, Baran Cengiz Arcagok, Didem Armangil, Esra Arun Ozer, Banu Aydın, Handan Bezirganoglu, Leyla Bilgin, Erhan Calısıcı, Sebnem Calkavur, Kıymet Celik, Yalcın Celik, Bilin Cetinkaya, Merih Cetinkaya, Atalay Demirel, Gamze Demirel, Nazan Neslihan Dogan, Pelin Doğan, Mehtap Durukan, Defne Engur, Tugba Erener Ercan, Zeynel Gokmen, Ipek Guney Varal, Selvi Gulası, Ayla Gunlemez, Tugba Gursoy, Handan Hakyemez Toptan, Serif Hamitoğlu, Fatih Isleyen, Irem Iyigun, Sebnem Kader, Dilek Kahvecioğlu, Gozdem Kaykı, Murat Kostu, Dilek Kurnaz, Tural Mammadalıyev, Ilke Mungan Akin, Nejat Narlı, Emel Okulu, Nilufer Okur, Ozgur Olukman, Fahri Ovalı, Beyza Ozcan, Ahmet Ozdemir, Ozmert Ozdemir, Hilal Ozkan, Gonca Sandal, Dilek Sarıcı, Cansu Sivrikaya, Betul Siyah Bilgin, Saime Sundus, Ozge Surmeli Onay, Huseyin Simsek, Umit Ayse Tandırcıoğlu, Sema Tanrıverdi, Kadir Serafettin Tekgunduz, Demet Terek, Gaffari Tunc, Turan Tunc, Ercan Tutak, Eda Tufekcioğlu, Funda Tuzun Erdogan, Ersin Ulu, Dilek Ulubas Isik, Nurdan Uras, Sait Ilker Uslu, Irem Unal, Fatma Hilal Yılmaz, Ariorad Moniri","doi":"10.3389/fped.2025.1492716","DOIUrl":"10.3389/fped.2025.1492716","url":null,"abstract":"<p><strong>Objective: </strong>Caffeine is a proven medication used for the prevention and treatment of apnea in premature infants, offering both short- and long-term benefits. International guidelines provide a range of recommendations regarding the preterm population eligible for caffeine prophylaxis, including the timing, dosage, and duration of treatment. Our national guidelines, published prior to the most recent updates of the international guidelines, recommend the use of caffeine citrate starting from the first day after delivery for preterm infants with a gestational age of <28 weeks. For infants up to 32 weeks, if positive pressure ventilation is required, the decision should be made on an individual basis. This study aims to describe the variability in caffeine usage across neonatal intensive care units in our country.</p><p><strong>Methods: </strong>An online survey was sent to neonatologist who are members of the Turkish Neonatology Society to describe the variability in caffeine usage in neonatal intensive care units in our country.</p><p><strong>Results: </strong>We collected responses from 74 units. Prophylactic caffeine usage was observed as; GA ≤27^6/7: 98.6%, GA 28^0/7-28^6/7: 89.0%, GA 29^0/7-29^6/7: 75.3%, GA 30^0/7-31^6/7: 53.4%. 62.2% of units reported administering loading dose within the first two hours. The initial maintenance dose was 5 mg/kg in 64.8% of units, 10 mg/kg in 32.4% of units, and intermediate dose in 5.3% of units. 47.3% of units reported no routine dose adjustment. The postmenstrual age that caffeine treatment was stopped was found to be 34 (min-max; 32-36) weeks for infants without apnea and respiratory support, 36 (min-max; 34-52) weeks for infants without apnea but any respiratory support. The time to discharge after treatment cessation was found as; 1-4 days: 37.8%, 5-7 days: 68.9%. Among the 56 units with multiple responsible physicians, 32.1% reported intra-unit variations.</p><p><strong>Conclusion: </strong>The significant differences in caffeine usage characteristics between and within units highlight the need for clear recommendations provided by standardized guidelines.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1492716"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11905296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624273","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: Ultralow-field portable MRI improves the diagnosis of congenital hydrocephalus.","authors":"Anne Groteklaes, Till Dresbach, Markus Born, Andreas Mueller, Hemmen Sabir","doi":"10.3389/fped.2025.1463314","DOIUrl":"10.3389/fped.2025.1463314","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital hydrocephalus is an increasing condition both in high as in low and middle income countries. Main causes include aqueductal stenosis, neonatal central nervous system infections, intracranial hemorrhage, malformations and tumors. Investigation of its etiology should include magnetic resonance imaging (MRI) to detect especially pathologies of the fossa cranii posterior. However, MRI is not available to every infant presenting with congenital hydrocephalus especially in those countries with the highest prevalence. New portable ultralow-field MRI (ULF) allows low resource and bedside imaging and thus widens the access to MRI for those infants. This study presents two cases of newborns with congenital hydrocephalus who underwent ULF scanning revealing a tumor of the fossa cranii posterior as cause of hydrocephalus. This study shows that ULF scanning allows to detect and characterize brain tumors as well as metastases.</p><p><strong>Setting and patients: </strong>In this case report, we present two cases of newborns antenatally diagnosed with hydrocephalus with no further pathology detected in repeated cranial ultrasound and, in one case, fetal MRI. We performed ULF imaging using a portable 0.064T MRI during natural sleep and high-field 3T MRI to investigate the etiology of congenital hydrocephalus in these infants.</p><p><strong>Main results: </strong>ULF imaging revealed a tumor of the fossa cranii posterior in both cases. MRI signalling detected in ULF imaging was specific for each tumor (ATRT, low grade glioma). In one case, ULF imaging also detected intracerebral metastasis.</p><p><strong>Conclusions: </strong>We demonstrated that ULF imaging is able to detect tumors of the fossa cranii posterior that are not detected on ultrasound and shows their specific MR-signalling as well as detect metastasis. Additionally, compared to 3T MRI, ULF MRI was able to reveal significant findings while requiring fewer resources and being easier to perform. Therefore, we propose that children with congenital hydrocephalus not showing any abnormalities on cranial ultrasound should undergo ULF MRI. This imaging modality holds potential for monitoring neonatal tumors and detecting metastasis.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1463314"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624288","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 role of myeloid-derived suppressor cells in children.","authors":"Jordan Brauner, Anna Wilt, Christopher P Montgomery, Katherine Bline","doi":"10.3389/fped.2025.1525143","DOIUrl":"10.3389/fped.2025.1525143","url":null,"abstract":"<p><p>Myeloid-derived suppressor cells (MDSC) were first recognized over twenty years ago as a key immunomodulatory cell population. Since their initial identification, a growing body of literature points to the importance of MDSC as a heterogeneous, immunosuppressive cell population and as a therapeutic target in adults with cancer. MDSC are potent suppressors of T cells and Natural Killer (NK) cells and can be helpful or harmful to the host depending on the pathophysiology. For example, MDSC are beneficial in pregnancy and prevent spontaneous abortion by promoting maternal-fetal tolerance. Increased MDSC are also associated with improved outcomes in patients with graft vs. host disease by decreasing T cell-driven inflammation. However, MDSC can also be harmful and are known to be pathologic in adults with cancer and chronic infections by promoting tumor escape and impairing pathogen clearance, respectively. Despite the widespread recognition of the importance of MDSC and their immune suppression effects in adults, much less is known regarding the role of MDSC in children. Research investigating MDSC in children lags significantly behind adult studies. In fact, while over 5,000 publications on PubMed discuss MDSC in immune regulation, fewer than 50 of these publications focus specifically on their role in children. This review aims to summarize the existing literature on the role of MDSC in children and identify important directions for future research, including targeting these cells in the pediatric population to improve clinical outcomes.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1525143"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624360","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":"Glans ischemia in a 7-month-old boy who underwent correction of megaprepuce: case report and review of the literature.","authors":"Susanne Kraske, Fanny Müller, Vera Schellerer","doi":"10.3389/fped.2024.1460717","DOIUrl":"10.3389/fped.2024.1460717","url":null,"abstract":"<p><p>Acute glans ischemia is a severe complication that can occur after penile surgery, such as circumcision, hypospadias repair, or disassembly of the corpora in epispadias. This rare condition is described in the current literature, especially after circumcision, although it is the less invasive procedure among those previously mentioned. We present a case of 7-month-old boy who developed glans ischemia after correction of megaprepuce. The condition was treated by intravenous unfractionated heparin. In our case, the complication of ischemia was complete dehiscence of the suture line at the coronal sulcus. Glans penis recovered completely and secondary intention wound healing occurred within 4 weeks. We reviewed the literature over the past 43 years (1981-2023) to describe the current options of surveillance, treatment, and outcome of glans ischemia after penile surgery in boys.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1460717"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624265","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 the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.","authors":"Handan Kava, Ozlem Akgun-Dogan, Ahmet Yesilyurt, Yasemin Alanay, Ugur Isik","doi":"10.3389/fped.2025.1471965","DOIUrl":"10.3389/fped.2025.1471965","url":null,"abstract":"<p><strong>Background: </strong>We aimed to understand the genetic etiology in children presenting with epilepsy and/or developmental delay by using next-generation sequencing (NGS).</p><p><strong>Materials and methods: </strong>We included children presenting to our pediatric neurology clinic with a diagnosis of epilepsy and/or developmental delay between January 2019 and December 2021. We evaluated the patients using the NGS equipment in our genetic laboratory.</p><p><strong>Results: </strong>In total, 90 patients were included in the study. Twenty (34.4%) out of 58 patients who had undergone whole-exome sequencing (WES) had pathogenic or likely pathogenic (P/LP) variants and 11 (18.9%) had variants of unknown significance (VUS). Five (41.6%) out of 12 patients who had undergone whole-genome sequencing had P/LP variants and 5 (41.6%) had VUS. Eleven (55%) out of 20 patients who had undergone WES and chromosomal microarray had P/LP variants and 2 (10%) had VUS. Twenty-six novel variants were described. Twelve patients (13.3%) were diagnosed using a known specific treatment.</p><p><strong>Conclusion: </strong>NGS aids in precisely diagnosing children with epilepsy and/or developmental delay. Furthermore, it provides a correct prognosis, specific treatment methods, and a multidisciplinary approach.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1471965"},"PeriodicalIF":2.1,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11904636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624222","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}