World Journal of Pediatrics最新文献

{"title":"ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy.","authors":"Yuan-Yuan Hu, Wang Song, Zhi-Gang Liu, Xing-Guang Ye, Hong-Wei Zhang, Xin Li, Jun-Xia Luo, Peng-Yu Wang, Jie Wang, Xiao-Fei Lin, Hong-Li Zhu, Wei-Ping Liao, Bin Li, Xu-Qin Chen","doi":"10.1007/s12519-024-00830-1","DOIUrl":"10.1007/s12519-024-00830-1","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"859-867"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141767608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differentiating rhythmic high-amplitude delta with superimposed (poly) spikes from extreme delta brushes: limitations of standardized nomenclature and implications for patient management.","authors":"Rene Andrade-Machado, Elham Abushanab, Namrata D Patel, Avantika Singh","doi":"10.1007/s12519-024-00816-z","DOIUrl":"10.1007/s12519-024-00816-z","url":null,"abstract":"<p><strong>Background: </strong>Following the standardized nomenclature proposed by the American Clinical Neurophysiology Society (ACNS), rhythmic high-amplitude delta activity with superimposed spikes (RHADS) can be reported as an extreme delta brush (EDB). The clinical implications of similar electrographic patterns being reported as RHADS versus EDB are important to highlight. We aim to review the electrographic characteristics of RHADS, evaluate whether RHADS is seen in other neurological disorders, and identify the similar and unique characteristics between RHADS and EDB to ultimately determine the most accurate way to differentiate and report these patterns. We believe that the differentiation of RHADS and EDB is important as there is a vast difference in the diagnostic approach and the medical management of associated underlying etiologies.</p><p><strong>Data source: </strong>We conducted an extensive search on MEDLINE and Pubmed utilizing various combinations of keywords. Searching for \"gamma polymerase and EEG\", or \"RHADS\" or \"Alpers syndrome and EEG\" or \"EEG\" AND \"Alpers-Huttenlocher syndrome\".</p><p><strong>Results: </strong>Three articles were found to be focused on the description of \"RHADS\" pattern in Alpers Syndrome. No publication to date were found when searching for the terms \"EDB\" AND \"children\", AND \"infant\" AND \"adolescent\" excluding \"encephalitis\" and \"neonate\". Although RHADS and EDB appear as similar EEG patterns, meticulous analysis can differentiate them. RHADS is not exclusive to patients with Alpers-Huttenlocher syndrome and may manifest in regions beyond the posterior head region. Reactivity to eye-opening and response to anesthesia can be two other elements that help in the differentiation of these patterns.</p><p><strong>Conclusion: </strong>RHADS is not exclusive to patients with AHS and may manifest in regions beyond the posterior head region. Reactivity to eye-opening and response to anesthesia are features that help in the differentiation of these patterns.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"764-773"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141601909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term clinical outcomes and health-related quality of life in patients with isolated methylmalonic acidemia after liver transplantation: experience from the largest cohort study in China.","authors":"Yi-Zhou Jiang, Guang-Peng Zhou, Lin Wei, Wei Qu, Zhi-Gui Zeng, Ying Liu, Yu-Le Tan, Jun Wang, Zhi-Jun Zhu, Li-Ying Sun","doi":"10.1007/s12519-023-00780-0","DOIUrl":"10.1007/s12519-023-00780-0","url":null,"abstract":"<p><strong>Background: </strong>Liver transplantation (LT) has been proposed as a viable treatment option for selected methylmalonic acidemia (MMA) patients. However, there are still controversies regarding the therapeutic value of LT for MMA. The systematic assessment of health-related quality of life (HRQoL)-targeted MMA children before and after LT is also undetermined. This study aimed to comprehensively assess the long-term impact of LT on MMA, including multiorgan sequelae and HRQoL in children and families.</p><p><strong>Methods: </strong>We retrospectively evaluated 15 isolated MMA patients undergoing LT at our institution between June 2013 and March 2022. Pre- and post-transplant data were compared, including metabolic profiles, neurologic consequences, growth parameters, and HRQoL. To further assess the characteristics of the HRQoL outcomes in MMA, we compared the results with those of children with biliary atresia (BA).</p><p><strong>Results: </strong>All patients had early onset MMA, and underwent LT at a mean age of 4.3 years. During 1.3-8.2 years of follow-up, the patient and graft survival rates were 100%. Metabolic stability was achieved in all patients with liberalized dietary protein intake. There was a significant overall improvement in height Z scores (P = 0.0047), and some preexisting neurological complications remained stable or even improved after LT. On the Pediatric Quality of Life Inventory (PedsQL™) generic core scales, the mean total, physical health, and psychosocial health scores improved significantly posttransplant (P < 0.05). In the family impact module, higher mean scores were noted for all subscales post-LT, especially family function and daily activities (P < 0.01). However, the total scores on the generic core scales and transplant module were significantly lower (Cohen's d = 0.57-1.17) when compared with BA recipients. In particular, social and school functioning (Cohen's d = 0.86-1.76), treatment anxiety, and communication (Cohen's d = 0.99-1.81) were far behind, with a large effect size.</p><p><strong>Conclusions: </strong>This large single-center study of the mainland of China showed an overall favorable impact of LT on isolated MMA in terms of long-term survival, metabolic control, and HRQoL in children and families. The potential for persistent neurocognitive impairment and inherent metabolic fragility requires long-term special care. Video Abstract (MP4 153780 KB).</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"809-821"},"PeriodicalIF":6.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11402840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: Clinical-based phenotypes in children with pediatric post-COVID-19 condition.","authors":"Lieke C E Noij, Jelle M Blankestijn, Coen R Lap, Marlies A van Houten, Giske Biesbroek, Anke-Hilse Maitland-van der Zee, Mahmoud I Abdel-Aziz, Johannes B van Goudoever, Mattijs W Alsem, Caroline L H Brackel, Kim J Oostrom, Simone Hashimoto, Suzanne W J Terheggen-Lagro","doi":"10.1007/s12519-024-00826-x","DOIUrl":"10.1007/s12519-024-00826-x","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Type I interferon pathway in pediatric systemic lupus erythematosus.","authors":"Yu Zhou, Hong-Mei Song","doi":"10.1007/s12519-024-00811-4","DOIUrl":"10.1007/s12519-024-00811-4","url":null,"abstract":"<p><strong>Background: </strong>The role of type I interferon (IFN-I) signaling in systemic lupus erythematosus (SLE) has been well established. However, unanswered questions remain regarding the applicability of these findings to pediatric-onset SLE. The aim of this review is to provide an overview of the novel discoveries on IFN-I signaling in pediatric-onset SLE.</p><p><strong>Data sources: </strong>A literature search was conducted in the PubMed database using the following keywords: \"pediatric systemic lupus erythematosus\" and \"type I interferon\".</p><p><strong>Results: </strong>IFN-I signaling is increased in pediatric SLE, largely due to the presence of plasmacytoid dendritic cells and pathways such as cyclic GMP-AMP synthase-stimulator of interferon genes-TANK-binding kinase 1 and Toll-like receptor (TLR)4/TLR9. Neutrophil extracellular traps and oxidative DNA damage further stimulate IFN-I production. Genetic variants in IFN-I-related genes, such as IFN-regulatory factor 5 and tyrosine kinase 2, are linked to SLE susceptibility in pediatric patients. In addition, type I interferonopathies, characterized by sustained IFN-I activation, can mimic SLE symptoms and are thus important to distinguish. Studies on interferonopathies also contribute to exploring the pathogenesis of SLE. Measuring IFN-I activation is crucial for SLE diagnosis and stratification. Both IFN-stimulated gene expression and serum IFN-α2 levels are common indicators. Flow cytometry markers such as CD169 and galectin-9 are promising alternatives. Anti-IFN therapies, such as sifalimumab and anifrolumab, show promise in adult patients with SLE, but their efficacy in pediatric patients requires further investigation. Janus kinase inhibitors are another treatment option for severe pediatric SLE patients.</p><p><strong>Conclusions: </strong>This review presents an overview of the IFN-I pathway in pediatric SLE. Understanding the intricate relationship between IFN-I and pediatric SLE may help to identify potential diagnostic markers and targeted therapies, paving the way for improved patient care and outcomes.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"653-668"},"PeriodicalIF":6.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11269505/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141447117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thermoregulation, incubator humidity, and skincare practices in appropriate for gestational age ultra-low birth weight infants: need for more evidence.","authors":"Umesh Mishra, Deanne August, Karen Walker, Pranav R Jani, Mark Tracy","doi":"10.1007/s12519-024-00818-x","DOIUrl":"10.1007/s12519-024-00818-x","url":null,"abstract":"<p><strong>Background: </strong>Although not universal, active care is being offered to infants weighing < 500 g at birth, referred to as ultra-low birth weight (ULBW) infants appropriate for gestational age. These infants have the greatest risk of dying or developing major morbidities. ULBW infants face challenges related to fluid and heat loss as well as skin injury in the initial days of life from extreme anatomical and physiological immaturity of the skin. Although there is an emerging literature on the outcomes of ULBW infants, there is a paucity of evidence to inform practice guidelines for delivering optimal care to this cohort of infants.</p><p><strong>Data sources: </strong>A comprehensive review of the literature was performed using the PubMed and Embase databases. Searched keywords included \"thermoregulation or body temperature regulation\", \"incubator humidity\", \"skin care\", \"infant, extremely low birth weight\" and \"ultra-low birth weight infants\".</p><p><strong>Results: </strong>Evidences for thermoregulation, incubator humidity, and skincare practices are available for preterm infants weighing < 1500 g at birth but not specifically for ULBW infants. Studies on thermoregulation, incubator humidity, or skincare practices had a small sample size and did not include a sub-group analysis for ULBW infants. Current practice recommendations in ULBW infants are adopted from research in very and/or extremely low birth weight infants.</p><p><strong>Conclusions: </strong>This narrative review focuses on challenges in thermoregulation, incubator humidity, and skincare practices in ULBW infants, highlights current research gaps and suggests potential developments for informing practices for improving health outcomes in ULBW infants. Video abstract (MP4 1,49,115 kb).</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"643-652"},"PeriodicalIF":6.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11269412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141307000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Magnetic resonance imaging of knees: a novel approach to predict recombinant human growth hormone therapy response in short-stature children in late puberty.","authors":"Xi Bai, Zhi-Bo Zhou, Xiao-Yuan Guo, Yi-Ling He, Yue-Lun Zhang, Feng-Dan Wang, Feng Feng, Hong-Bo Yang, Shi Chen, Feng-Ying Gong, Hui-Juan Zhu, Hui Pan","doi":"10.1007/s12519-023-00758-y","DOIUrl":"10.1007/s12519-023-00758-y","url":null,"abstract":"<p><strong>Background: </strong>There is no appropriate tool to predict recombinant human growth hormone (rhGH) response before therapy initiation in short-stature children in late puberty. The current study aimed to explore the associations between magnetic resonance imaging (MRI) stages of the knee growth plates and rhGH response in short-stature children in late puberty.</p><p><strong>Methods: </strong>In this prospective cohort study, short-stature children in late puberty were treated with rhGH and followed up for 6 months. We proposed a novel knee MRI staging system according to the growth plate states of distal femurs or proximal tibias and divided the participants into three groups: unclosed growth plate group, marginally closed growth plate group, and nearly closed growth plate group. The primary outcomes were height gain and growth velocity (GV), which were assessed three months later.</p><p><strong>Results: </strong>Fifty participants were enrolled, including 23 boys and 27 girls. GV and height gain after 6 months of rhGH therapy decreased successively in the three groups with an increased degree of growth plate fusion, especially when grouped by proximal tibias (GV_{1-3 mon} from 9.38 to 6.08 to 4.56 cm/year, GV_{4-6 mon} from 6.75 to 4.92 to 3.25 cm/year, and height gain from 4.03 to 2.75 to 1.95 cm, all P < 0.001). Moreover, the MRI stages of growth plates independently served as a significant variable for GV and height gain after therapy, especially when grouped by proximal tibias (all P < 0.01).</p><p><strong>Conclusion: </strong>The MRI staging method is expected to be an effective tool for predicting rhGH response before therapy initiation in short-stature children in late puberty.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"723-734"},"PeriodicalIF":6.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11269482/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49682958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neural network mapping of gelastic behavior in children with hypothalamus hamartoma.","authors":"Zhi-Hao Guo, Jian-Guo Zhang, Xiao-Qiu Shao, Wen-Han Hu, Lin Sang, Zhong Zheng, Chao Zhang, Xiu Wang, Chun-De Li, Jia-Jie Mo, Kai Zhang","doi":"10.1007/s12519-023-00763-1","DOIUrl":"10.1007/s12519-023-00763-1","url":null,"abstract":"<p><strong>Background: </strong>Hypothalamus hamartomas (HHs) are rare, congenital, tumor-like, and nonprogressive malformations resulting in drug-resistant epilepsy, mainly affecting children. Gelastic seizures (GS) are an early hallmark of epilepsy with HH. The aim of this study was to explore the disease progression and the underlying physiopathological mechanisms of pathological laughter in HH.</p><p><strong>Methods: </strong>We obtained clinical information and metabolic images of 56 HH patients and utilized ictal semiology evaluation to stratify the specimens into GS-only, GS-plus, and no-GS subgroups and then applied contrasted trajectories inference (cTI) to calculate the pseudotime value and evaluate GS progression. Ordinal logistic regression was performed to identify neuroimaging-clinical predictors of GS, and then voxelwise lesion network-symptom mapping (LNSM) was applied to explore GS-associated brain regions.</p><p><strong>Results: </strong>cTI inferred the specific metabolism trajectories of GS progression and revealed increased complexity from GS to other seizure types. This was further validated via actual disease duration (Pearson R = 0.532, P = 0.028). Male sex [odds ratio (OR) = 2.611, P = 0.013], low age at seizure onset (OR = 0.361, P = 0.005), high normalized HH metabolism (OR =  - 1.971, P = 0.037) and severe seizure burden (OR =  - 0.006, P = 0.032) were significant neuroimaging clinical predictors. LNSM revealed that the dysfunctional cortico-subcortico-cerebellar network of GS and the somatosensory cortex (S1) represented a negative correlation.</p><p><strong>Conclusions: </strong>This study sheds light on the clinical characteristics and progression of GS in children with HH. We identified distinct subtypes of GS and demonstrated the involvement of specific brain regions at the cortical-subcortical-cerebellar level. These valuable results contribute to our understanding of the neural correlates of GS.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"735-745"},"PeriodicalIF":6.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11269438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71486678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perinatal prevalence of birth defects in the Mainland of China, 2000-2021: a systematic review and meta-analysis.","authors":"Liang-Yu Kang, Zi-Rui Guo, Wei-Jing Shang, Gui-Ying Cao, Yi-Ping Zhang, Qiao-Mei Wang, Hai-Ping Shen, Wan-Nian Liang, Min Liu","doi":"10.1007/s12519-023-00786-8","DOIUrl":"10.1007/s12519-023-00786-8","url":null,"abstract":"<p><strong>Background: </strong>Although birth defects are of great concern globally, the latest national prevalence has not yet been quantified in China. We conducted a systematic review and meta-analysis to estimate the perinatal prevalence of birth defects in the Mainland of China between 2000 and 2021.</p><p><strong>Methods: </strong>We performed a systematic literature search of six databases for relevant articles published between January 1, 2000, and March 1, 2023. We included published studies that reported data on the perinatal prevalence of birth defects in the Mainland of China. The DerSimonian and Laird random-effects models were used to estimate the pooled prevalence and its 95% confidence interval (CI). We also conducted subgroup analyses and univariable meta-regressions to explore differences in prevalence by time period, geographic region, and other characteristics.</p><p><strong>Results: </strong>We included 254 studies reporting the perinatal prevalence of birth defects and 86 studies reporting only the prevalence of specific types of birth defects. Based on 254 studies covering 74,307,037 perinatal births and 985,115 cases with birth defects, the pooled perinatal prevalence of birth defects was 122.54 (95% CI 116.20-128.89) per 10,000 perinatal births in the Mainland of China during 2000-2021. Overall, the perinatal prevalence of birth defects increased from 95.60 (86.51-104.69) per 10,000 in 2000-2004 to 208.94 (175.67-242.22) per 10,000 in 2020-2021. There were also significant disparities among different geographical regions. Congenital heart defects (33.35 per 10,000), clefts of the lip and/or palate (13.52 per 10,000), polydactyly (12.82 per 10,000), neural tube defects (12.82 per 10,000), and inborn errors of metabolism (11.41 per 10,000) were the five most common types of birth defects. The perinatal prevalence among males was significantly higher than that among females (β = 2.44 × 10^-3, P = 0.003); a higher perinatal prevalence of birth defects was observed among perinatal births whose mothers were ≥ 35 years (β = 4.34 × 10^-3, P < 0.001).</p><p><strong>Conclusion: </strong>Comprehensive and sustained efforts are needed to strengthen surveillance and detection of birth defects, improve prenatal and postnatal healthcare, and promote rehabilitation, especially in underdeveloped areas.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"669-681"},"PeriodicalIF":6.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139716394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Resurgence of pertussis: reasons and coping strategies.","authors":"Chun-Zhen Hua, Han-Qing He, Qiang Shu","doi":"10.1007/s12519-024-00821-2","DOIUrl":"10.1007/s12519-024-00821-2","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"639-642"},"PeriodicalIF":6.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}