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世界儿科杂志（英文版）
世界儿科杂志（英文版）

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世界儿科杂志（英文版）/Journal World Journal of PediatricsCSCDCSTPCD北大核心SCI
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    Sturge-Weber syndrome:an update for the pediatrician

    Emilie DingenenDamien SegersHannelore De MaeseneerDirk Van Gysel...
    435-443页
    查看更多>>摘要：Background Sturge-Weber syndrome(SWS)is a rare congenital neurocutaneous disorder characterized by the simultane-ous presence of both cutaneous and extracutaneous capillary malformations.SWS usually presents as a facial port-wine birthmark,with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities.The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma.SWS is most often caused by a somatic mutation involving the G protein subunit alpha Q or G protein subunit alpha 11 gene causing various alterations in downstream signaling pathways.We specifically conducted a comprehensive review focusing on the current knowledge of clinical practices,the latest pathophysiological insights,and the potential novel therapeutic avenues they provide.Data sources A narrative,non-systematic review of the literature was conducted,combining expert opinion with a balanced review of the available literature.A search of PubMed,Google Scholar and Embase was conducted,using keywords"Sturge-Weber Syndrome"OR"SWS","Capillary malformations","G protein subunit alpha 11"OR"G protein subunit alpha Q".Results One of the hallmark features of SWS is the presence of a port-wine birthmark at birth,and forehead involvement is most indicative for SWS.The most common ocular manifestations of SWS are glaucoma and choroidal hemangioma.Glau-coma presents in either in infancy(0-3 years of age)or later in life.Neurological complications are common in SWS,occurring in about 70％-80％of patients,with seizures being the most common one.SWS significantly impacts the quality of life for patients and their families,and requires a multidisciplinary approach for diagnosis and treatment.Currently,no disease-modifying therapies exist,and treatment is mostly focused on symptoms or complications as they arise.Conclusions SWS remains a complex and heterogeneous disorder.Further research is needed to optimize diagnostic and therapeutic strategies,and to translate insights from molecular pathogenesis to clinical practice.
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    Current understanding of ELF4 deficiency:a novel inborn error of immunity

    Hong-Qiang DuXiao-Dong Zhao
    444-450页
    查看更多>>摘要：Background ELF4 deficiency has been recently recognized as a novel disorder within the spectrum of inborn errors of immu-nity(IEIs),specifically categorized as a"disease of immune dysregulation."Cases of this condition,reported by our team and others,are very limited worldwide.As such,our current knowledge of this new disease remains preliminary.This review aims to provide a brief overview of the clinical manifestations,pathogenesis,and treatment strategies for this novel IEI.Data sources A comprehensive review was conducted after an extensive literature search in the PubMed/Medline database and websites concerning transcriptional factor ELF4 and reports concerning patients with ELF4 deficiency.Our search strategy was"ELF4 OR ETS-related transcription factor Elf-4 OR EL4-like factor 4 OR myeloid Elf-1-like factor"as of the time of manuscript submission.Results The current signature manifestations of ELF4 deficiency disorder are recurrent and prolonged oral ulcer,abdominal pain,and diarrhea in pediatric males.In some cases,immunodeficiency and autoimmunity can also be prominent.Targeted Sanger sequencing or whole exome sequencing can be used to detect variation in ELF4 gene.Western blotting for ELF4 expression of the patient's cells can confirm the pathogenic effect of the variant.To fully confirm the pathogenicity of the variant,further functional test is strongly advised.Glucocorticoid and biologics are the mainstream management of ELF4 deficiency disorder.Conclusions Pediatric males presenting with recurring ulcerations in digestive tract epithelium with or without recurrent fever should be suspected of DEX.When atypical presentations are prominent,variations in ELF4 gene should be carefully evaluated functionally due to the complex nature of ELF4 function.Experience of treating DEX includes use of glucocorti-coid and biologics and more precise treatment needs more patients to identify and further mechanistic study.
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    Prenatal and postnatal factors associated with sudden infant death syndrome:an umbrella review of meta-analyses

    Tae Hyeon KimHyeri LeeSelin WooHayeon Lee...
    451-460页
    查看更多>>摘要：Background Comprehensive quantitative evidence on the risk and protective factors for sudden infant death syndrome(SIDS)effects is lacking.We investigated the risk and protective factors related to SIDS.Methods We conducted an umbrella review of meta-analyses of observational and interventional studies assessing SIDS-related factors.PubMed/MEDLINE,Embase,EBSCO,and Google Scholar were searched from inception until January 18,2023.Data extraction,quality assessment,and certainty of evidence were assessed by using A Measurement Tool Assess-ment Systematic Reviews 2 following PRISMA guidelines.According to observational evidence,credibility was graded and classified by class and quality of evidence(CE;convincing,highly suggestive,suggestive,weak,or not significant).Our study protocol was registered with PROSPERO(CRD42023458696).The risk and protective factors related to SIDS are presented as equivalent odds ratios(eORs).Results We identified eight original meta-analyses,including 152 original articles,covering 12 unique risk and protec-tive factors for SIDS across 21 countries/regions and five continents.Several risk factors,including prenatal drug expo-sure[eOR=7.84(95％CI=4.81-12.79),CE=highly suggestive],prenatal opioid exposure[9.55(95％CI=4.87-18.72),CE=suggestive],prenatal methadone exposure[9.52(95％CI=3.34-27.10),CE=weak],prenatal cocaine exposure[4.38(95％CI=1.95-9.86),CE=weak],prenatal maternal smoking[2.25(95％CI=1.95-2.60),CE=highly suggestive],postnatal maternal smoking[1.97(95％CI=1.75-2.22),CE=weak],bed sharing[2.89(95％CI=1.81-4.60),CE=weak],and infants found with heads covered by bedclothes after last sleep[11.01(95％CI=5.40-22.45),CE=suggestive],were identified.On the other hand,three protective factors,namely,breastfeeding[0.57(95％CI=0.39-0.83),CE=non-significant],supine sleeping position[0.48(95％CI=0.37-0.63),CE=suggestive],and pacifier use[0.44(95％CI=0.30-0.65),CE=weak],were also identified.Conclusions Based on the evidence,we propose several risk and protective factors for SIDS.This study suggests the need for further studies on SIDS-related factors supported by weak credibility,no association,or a lack of adequate research.
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    Efficacy of physiological seawater nasal irrigation for the treatment of children with SARS-CoV-2 Omicron BA.2 variant infection:a randomized controlled trial

    Ji-Lei LinFen ZhangYan-Bo LiShu-Hua Yuan...
    461-469页
    查看更多>>摘要：Background Saline nasal irrigation is an effective therapy for relieving common cold symptoms.This study aimed to inves-tigate and explore the efficacy of physiological seawater nasal irrigation(PSNI)on children with mild and asymptomatic infection with Omicron.Methods This randomized controlled trial was conducted in Shanghai,China,and 403 children with mild and asymptomatic infection with Omicron were included.These children were allocated into the PSNI group and the control group.The pri-mary outcome was the duration of viral shedding(DVS),and the secondary outcome was the change in clinical symptoms.Results The median age of all participants was 5.59(6.26)years old.The DVS was significantly shorter in the PSNI group[2.40(1.13)]than in the control group[3.09(2.14)](P=0.014).The multivariable Cox regression model also showed that patients in the PSNI group had an increased probability of shorter DVS compared with patients in the control group[hazard ratio(HR),1.27;95％confidence interval(CI),1.04-1.55;P=0.017].Subgroup analysis suggested that the DVS of patients without full vaccination was significantly reduced in the PSNI group.The proportions of runny nose and stuffy nose were apparently reduced in the first three days in the PSNI group or the control group,but there was no evidence showing that PSNI contributes to the benefit compared with the control group.Conclusion PSNI can reduce the DVS of patients with mild and asymptomatic infection with SARS-CoV-2 Omicron BA.2 variant.
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    Factors affecting length of stay according to bronchopulmonary dysplasia severity:a nationwide cohort study in Korea

    Hye Mi LeeJeongmin ShinSae Yun KimSo Young Kim...
    470-480页
    查看更多>>摘要：Background Longer hospitalizations for preterm infants with bronchopulmonary dysplasia(BPD)delay developmental outcomes,increase the risk for hospital-acquired complications,and exert a substantial socioeconomic burden.This study aimed to identify factors associated with an extended length of stay(LOS)at different levels of severity of BPD.Methods A cohort study was conducted using the Korean Neonatal Network registry of very low birth weight infants with BPD between 2013 and 2017 through retrospective analysis.Results A total of 4263 infants were diagnosed with BPD.For mild BPD,infants requiring surgical treatment for patent duc-tus arteriosus needed a longer LOS[eadjusted βcoefficients(adj β)1.041;95％confidence interval(CI):0.01-0.08]and hydrocephalus(eadj β 1.094;95％CI 0.01-0.17).In moderate BPD,infants administered steroids or with intraventricular hemorrhage required a longer LOS(eadj β 1.041;95％CI 0.00-0.07 and eadjP 1.271;95％CI 0.11-0.38,respectively).In severe BPD,infants with comorbidities required a longer LOS:pulmonary hypertension(eadjβ 1.174;95％CI 0.09-0.23),administrated steroid for BPD(eadjβ 1.116;95％CI 0.07-0.14),sepsis(eadjβ 1.062;95％CI 0.01-0.11),patent ductus arteriosus requiring surgical ligation(eadj β 1.041;95％CI 0.00-0.08),and intraventricular hemorrhage(eadj β 1.016;95％CI 0.05-0.26).Additionally,the higher the clinical risk index score,the longer the LOS needed for infants in all groups.Conclusions The factors affecting LOS differed according to the severity of BPD.Individualized approaches to reducing LOS may be devised using knowledge of the various risk factors affecting LOS by BPD severity.
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    Fetal lung growth predicts the risk for early-life respiratory infections and childhood asthma

    Dimitra E.ZazaraOlympia GiannouSteven SchepanskiMirja Pagenkemper...
    481-495页
    查看更多>>摘要：Background Early-life respiratory infections and asthma are major health burdens during childhood.Markers predicting an increased risk for early-life respiratory diseases are sparse.Here,we identified the predictive value of ultrasound-monitored fetal lung growth for the risk of early-life respiratory infections and asthma.Methods Fetal lung size was serially assessed at standardized time points by transabdominal ultrasound in pregnant women participating in a pregnancy cohort.Correlations between fetal lung growth and respiratory infections in infancy or early-onset asthma at five years were examined.Machine-learning models relying on extreme gradient boosting regressor or classifier algorithms were developed to predict respiratory infection or asthma risk based on fetal lung growth.For model development and validation,study participants were randomly divided into a training and a testing group,respectively,by the employed algorithm.Results Enhanced fetal lung growth throughout pregnancy predicted a lower early-life respiratory infection risk.Male sex was associated with a higher risk for respiratory infections in infancy.Fetal lung growth could also predict the risk of asthma at five years of age.We designed three machine-learning models to predict the risk and number of infections in infancy as well as the risk of early-onset asthma.The models'R2 values were 0.92,0.90 and 0.93,respectively,underscoring a high accuracy and agreement between the actual and predicted values.Influential variables included known risk factors and novel predictors,such as ultrasound-monitored fetal lung growth.Conclusion Sonographic monitoring of fetal lung growth allows to predict the risk for early-life respiratory infections and asthma.
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    Maternal weight and its association with risk of overweight in offspring:a trajectory analysis from a birth cohort in China

    Rui DengWei-Qin LiXing-Xiu LiLiu-Mei Wei...
    496-505页
    查看更多>>摘要：Background Most studies on the association of maternal pregnancy weight with offspring weight trajectory have a short follow-up time.This study aimed to explore the associations of maternal prepregnancy body mass index(BMI)and gesta-tional weight gain(GWG)with childhood weight trajectories in a 7-year birth cohort.Methods A total of 946 mother-child pairs(467 boys and 479 girls)from a longitudinal birth cohort in Tianjin City,China,were included in this study,ranging from pregnancy to offspring at 7 years.The outcome variable was defined as overweight or not overweight in offspring at the last round.A group-based trajectory model was applied to identify childhood BMI trajectory groups.Results Five discrete BMI trajectory groups were identified and characterized as constant underweight(25.2％),constant normal weight(42.8％),and high or increasing trajectory[at risk of overweight(16.9％),progressive overweight(11.0％)and progressive obesity(4.1％)].Maternal prepregnancy overweight was associated with 1.72(95％CI 1.14-2.60,P=0.01)to 4.02(95％CI 1.94-8.36,P＜0.001)times the risk of all high or increasing trajectory groups,and excessive GWG was related to groups at risk of overweight[relative risk ratio(RRR)2.09,95％CI 1.27-3.46,P=0.004]and progressive obe-sity(RRR 3.33,95％CI 1.13-9.79,P=0.029).Children in all high or increasing trajectory groups were associated with greater overweight risk at the last round[risk ratios(RRs)ranged from 3.54(95％CI 2.53-4.95,P＜0.001)to 6.18(95％CI 4.05-9.42,P＜0.001)].Conclusion Maternal prepregnancy overweight and excessive gestational weight gain were associated with increasing or high-level childhood body mass index trajectories as well as a greater risk of overweight at 7 years.
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    Risk factors for renal outcomes in children with antineutrophil cytoplasmic antibody-associated vasculitis:a nationwide retrospective study in China

    Li-Wen TanJun-Li WanChun-Hua ZhuHong Xu...
    506-516页
    查看更多>>摘要：Background Pediatric antineutrophil cytoplasmic antibody-associated vasculitis(AAV)is a life-threatening systemic vas-culitis featured by liability to renal involvement.However,there are few studies on the risk factors and predictive models for renal outcomes of AAV in children.Methods Data from 179 AAV children in multiple centers between January 2012 and March 2020 were collected retrospec-tively.The risk factors and predictive model of end-stage renal disease(ESRD)in AAV were explored.Results Renal involvement was the most typical manifestation(95.5％),and the crescent was the predominant pathological lesion(84.9％).The estimated glomerular filtration rate(eGFR)was evaluated in 114 patients,of whom 59.6％developed ESRD,and the median time to ESRD was 3.20 months.The eGFR[P=0.006,odds ratio(OR)=0.955,95％confidence inter-val(CI)=0.924-0.987]and the percentages of global glomerulosclerosis(pGGS;P=0.018,OR=1.060,95％CI=1.010-1.112)were independent risk factors for ESRD of renal biopsy.Based on the pGGS and eGFR at renal biopsy,we developed three risk grades of ESRD and one predictive model.The Kaplan-Meier curve indicated that renal outcomes were signifi-cantly different in different risk grades(P＜0.001).Compared with serum creatinine at baseline,the predictive model had higher accuracy(0.86 versus 0.58,P＜0.001)and a lower coefficient of variation(0.07 versus 0.92)in external validation.Conclusions Renal involvement is the most common manifestation of pediatric AAV in China,of which more than half deteriorates into ESRD.The predictive model based on eGFR at renal biopsy and the pGGS may be stable and accurate in speculating the risk of ESRD in AAV children.
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    Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations:a single-center single-arm retrospective study

    Ying-Yan WangYun-Qing ZhouLi-Juan LuoCui-Jin Wang...
    517-524页
    查看更多>>摘要：Background This retrospective study assessed the efficacy and safety of ketogenic diet therapies in children with epilepsy caused by SLC2A1 genetic mutations and glucose transporter type 1 deficiency syndrome.Methods Pediatric patients with epilepsy symptoms admitted to our medical center between January 2017 and October 2021 were included if they presented with an SLC2A1 genetic mutation on whole-exome sequencing.We analyzed the patients'convulsions and treatment with antiepileptic drugs.The patients were followed up at different time periods after ketogenic diet therapies.Results Six patients with SLC2A1 mutations were included in this study.The patients had seizures of different types and frequencies,and they took antiepileptic drugs to relieve their symptoms.They were then treated with a ketogenic diet for at least four months.We analyzed epilepsy control rates at 1,2,3,6,and 12 months after ketogenic diet treatment.All patients were seizure-free within a month of receiving the diet therapy.All patients were followed up for six months,three were fol-lowed up for 12 months after the treatment,and there was no recurrence of epilepsy during this period.After antiepileptic drug withdrawal,none of the patients experienced seizure relapse when receiving ketogenic diet treatment alone.No severe adverse events occurred during the therapy.Conclusions Ketogenic diet therapy is very effective and safe for the treatment of epilepsy caused by SLC2A1 mutations.Therefore,patients with glucose transporter type 1 deficiency syndrome caused by SLC2A1 mutations should begin ketogenic diet treatment as soon as possible.
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    Clinical characteristics and treatment of splenic infarction in children with systemic lupus erythematosus

    Yan LiYu-Rong PiaoTong-Xin HanHua-Wei Mao...
    525-531页
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