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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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    Viral-mediated gene therapy in pediatric neurological disorders

    Jing PengWei-Wei ZouXiao-Lei WangZhi-Guo Zhang...
    533-555页
    查看更多>>摘要:Background Due to the broad application of next-generation sequencing,the molecular diagnosis of genetic disorders in pediatric neurology is no longer an unachievable goal.However,treatments for neurological genetic disorders in children remain primarily symptomatic.On the other hand,with the continuous evolution of therapeutic viral vectors,gene therapy is becoming a clinical reality.From this perspective,we wrote this review to illustrate the current state regarding viral-mediated gene therapy in childhood neurological disorders.Data sources We searched databases,including PubMed and Google Scholar,using the keywords"adenovirus vector,""lentivirus vector,"and"AAV"for gene therapy,and"immunoreaction induced by gene therapy vectors,""administration routes of gene therapy vectors,"and"gene therapy"with"NCL,""SMA,""DMD,""congenital myopathy,""MPS""leu-kodystrophy,"or"pediatric metabolic disorders".We also screened the database of ClinicalTrials.gov using the keywords"gene therapy for children"and then filtered the results with the ones aimed at neurological disorders.The time range of the search procedure was from the inception of the databases to the present.Results We presented the characteristics of commonly used viral vectors for gene therapy for pediatric neurological disorders and summarized their merits and drawbacks,the administration routes of each vector,the research progress,and the clinical application status of viral-mediated gene therapy on pediatric neurological disorders.Conclusions Viral-mediated gene therapy is on the brink of broad clinical application.Viral-mediated gene therapy will dramatically change the treatment pattern of childhood neurological disorders,and many children with incurable diseases will meet the dawn of a cure.Nevertheless,the vectors must be optimized for better safety and efficacy.

    Brain development in newborns and infants after ECMO

    Kai YanLu-Kun TangFei-Fan XiaoPeng Zhang...
    556-568页
    查看更多>>摘要:Background Extracorporeal membrane oxygenation(ECMO)not only significantly improves survival rates in severely ill neonates but also is associated with long-term neurodevelopmental issues.To systematically review the available litera-ture on the neurodevelopmental outcomes of neonates and infants who have undergone ECMO treatment,with a focus on motor deficits,cognitive impairments,sensory impairments,and developmental delays.This review aims to understand the incidence,prevalence,and risk factors for these problems and to explore current nursing care and management strategies.Data sources A comprehensive literature search was performed across PubMed,EMBASE,and Web of Science using a wide array of keywords and phrases pertaining to ECMO,neonates,infants,and various facets of neurodevelopment.The initial screening involved reviewing titles and abstracts to exclude irrelevant articles,followed by a full-text assessment of potentially relevant literature.The quality of each study was evaluated based on its research methodology and statistical analysis.Moreover,citation searches were conducted to identify potentially overlooked studies.Although the focus was primarily on neonatal ECMO,studies involving children and adults were also included due to the limited availability of neonate-specific literature.Results About 50%of neonates post-ECMO treatment exhibit varying degrees of brain injury,particularly in the frontal and temporoparietal white matter regions,often accompanied by neurological complications.Seizures occur in 18%-23%of neonates within the first 24 hours,and bleeding events occur in 27%-60%of ECMO procedures,with up to 33%poten-tially experiencing ischemic strokes.Although some studies suggest that ECMO may negatively impact hearing and visual development,other studies have found no significant differences;hence,the influence of ECMO remains unclear.In terms of cognitive,language,and intellectual development,ECMO treatment may be associated with potential developmental delays,including lower composite scores in cognitive and motor functions,as well as potential language and learning difficulties.These studies emphasize the importance of early detection and intervention of potential developmental issues in ECMO survivors,possibly necessitating the implementation of a multidisciplinary follow-up plan that includes regular neuromotor and psychological evaluations.Overall,further multicenter,large-sample,long-term follow-up studies are needed to deter-mine the impact of ECMO on these developmental aspects.Conclusions The impact of ECMO on an infant's nervous system still requires further investigation with larger sample sizes for validation.Fine-tuned management,comprehensive nursing care,appropriate patient selection,proactive monitoring,nutritional support,and early rehabilitation may potentially contribute to improving the long-term outcomes for these infants.

    Prevalence of nonalcoholic fatty liver disease in pediatrics and adolescents:a systematic review and meta-analysis

    Eun Joo LeeMiyoung ChoiSang Bong AhnJeong-Ju Yoo...
    569-580页
    查看更多>>摘要:Background As childhood obesity escalates worldwide,the prevalence of nonalcoholic fatty liver disease(NAFLD)in pedi-atric and adolescent populations is also increasing.However,systematic studies and meta-analyses evaluating the prevalence of pediatric NAFLD remain limited.Methods The MEDLINE,Korean Medical Database(KMBASE),Embase,Global Health,and Cochrane Library databases were searched from January 1997 to April 2023.Search terms included NAFLD or steatosis;nonalcoholic or steatohepatitis;child(ren),adolescent,or teenager;and prevalence,incidence,or epidemiology.A random-effects meta-analysis model was used to estimate the prevalence of pediatric NAFLD.Results A total of 2116 publications were found,of which 62 were included in the meta-analysis.Among them,27 reported the prevalence in the general population and 39 in the obese population.The worldwide pooled prevalence of pediatric NAFLD was 13%[95%confidence interval(CI)9-18%]in the general population and 47%(95%CI 41%-53%)in the obese population.Among 16 studies in the general population and 18 in the obese population,NAFLD prevalence varied by gender.In the general population,the prevalence of NAFLD was 15%(95%CI 8%-23%)in males and 10%(95%CI 6%-15%)in females.In the obese population,it was 54%(95%CI 46%-61%)in males and 39%(95%CI 30%-49%)in females.Conclusions The global prevalence of pediatric NAFLD is rising in both the general and obese populations.Given the increasing rates of childhood obesity,epidemiological studies on the prevalence and incidence of NAFLD are needed.

    Prospective cohort study on facial profile changes in infants with Robin sequence and healthy controls

    Cornelia WiechersJulian SowulaKaren KreutzerChristoph E.Schwarz...
    581-589页
    查看更多>>摘要:Background Various conservative and surgical approaches exist to treat Robin sequence(RS),but their effects on facial profile and mandibular catch-up growth are unclear.A functional treatment concept,used in our centre for 25 years,includes an individualized palatal plate with a velo-pharyngeal extension and intensive feeding training.Methods We performed a prospective study to objectively describe facial profiles in infants with RS treated with the above concept.Infants with isolated RS were admitted to our tertiary perinatal and national referral centre for craniofacial malforma-tions between May 2018 and Nov 2019.Infants with RS received 3D-photographs during clinically indicated visits.Healthy controls were recruited from Dec 2018 to Sep 2019 and received 3D-photographs every 3 months.The digitally measured jaw index(JI),defined as alveolar overjet(O)x maxillary arch(U)/mandibular arch(L),and the soft tissue reference points A'-point,Nasion',B'-point angle(ANB'),describing the relative position of maxilla to mandible,were evaluated.Linear mixed models were used to examine time trajectories in JI and ANB'.Results A total of 207 3D images,obtained in 19 infants with RS and 32 controls,were analysed.JI and ANB'decreased over time in both groups[for JI-0.18(95%CI-0.25 to-0.10);for ANB':-0.40° per month[(95%CI-0.48 to-0.32)]]but remained lower in controls[for JI-2.5(95%CI-3.2 to-1.8);for ANB'-1.7°(95%CI-2.4 to-1.0)].Also,the ANB'model showed a significant effect of the interaction term diagnosis x age.Conclusions Based on longitudinal 3D images,we describe changes in objective parameters of facial profile in infants with and without RS during the first year of life.Our findings indicate catch-up growth in infants treated for RS.

    A multicenter prospective study on the management of hepatoblastoma in children:a report from the Chinese Children's Cancer Group

    Meng-Jie TangXiao-Li MaXiang-Ling HeWei-Hua Pan...
    590-601页
    查看更多>>摘要:Background This study aimed to identify survival risk factors in Chinese children with hepatoblastoma(HB)and assess the effectiveness of the new treatment protocol proposed by the Chinese Children's Cancer Group(CCCG)in 2016.Methods A multicenter,prospective study that included 399 patients with HB from January 2015 to June 2020 was con-ducted.Patient demographics,treatment protocols,and other related information were collected.Cox regression models and Kaplan-Meier curve methods were used.Results The 4-year event-free survival(EFS)and overall survival(OS)were 76.9 and 93.5%,respectively.The 4-year EFS rates for the very-low-risk,low-risk,intermediate-risk,and high-risk groups were 100%,91.6%,81.7%,and 51.0%,respec-tively.The 4-year OS was 100%,97.3%,94.4%,and 86.8%,respectively.Cox regression analysis found that age,tumor rupture(R+),and extrahepatic tumor extension(E+)were independent prognostic factors.A total of 299 patients had complete remission,and 19 relapsed.Patients with declining alpha-fetoprotein(AFP)>75%after the first two cycles of neoadjuvant chemotherapy had a better EFS and OS than those ≤ 75%.Conclusions The survival outcome of HB children has dramatically improved since the implementation of CCCG-HB-2016 therapy.Age ≥ 8 years,R+,and E+were independent risk factors for prognosis.Patients with a declining AFP>75%after the first two cycles of neoadjuvant chemotherapy had better EFS and OS.

    Sirolimus can promote the disappearance of renal angiomyolipoma associated with tuberous sclerosis complex:a prospective cohort study

    Shuo DunYang-Yang WangLin WanQiu-Hong Wang...
    602-610页
    查看更多>>摘要:Background Renal angiomyolipoma(RAML)is the most common kidney lesion in patients with tuberous sclerosis complex(TSC),affecting about 80%of patients.It is a benign tumor that grows over time,usually bilaterally,and can easily lead to kidney complications such as acute hemorrhage.Herein,we investigated the efficacy and safety of sirolimus in children with TSC-associated RAML and explored the factors affecting tumor disappearance under sirolimus treatment through subgroup analysis.Methods A prospective cohort study was conducted.Sirolimus was initiated at 1 mg/(m2×day),and dose adjustments were made by a 2-week titration period to attain a trough blood concentration of 5-10 ng/mL.The disappearance of RAML in chil-dren after sirolimus treatment was observed,and Cox regression was used to screen the factors affecting tumor disappearance.Results One hundred and twenty-six patients who met the criteria were analyzed.After 3 months,6 months,12 months,and 24 months of follow-up,tumors disappeared in 18(14.3%),30(23.8%),39(31.0%),and 42(33.3%)children,respec-tively.Tumors disappeared in 50(39.7%)children by the last visit of each individual,and 30(60%)of them occurred within 6 months.The multivariate Cox regression analysis showed that patients with a smaller maximum tumor diameter at baseline had a higher tumor disappearance rate.Thirty-six(29%)patients had stomatitis during the entire treatment period,and no serious adverse reactions were observed.Conclusions Sirolimus could promote the disappearance of TSC-related RAML.The disappearance rate was correlated with the maximum diameter at baseline,and the smaller the tumor was,the higher the disappearance rate.It is well tolerated in the treatment of RAML associated with TSC.

    Severe acute respiratory syndrome coronavirus-2-related and imputable deaths in children:results from the French pediatric national registry

    Marguerite Lockhart-BouronNoémie VanelMichael LevyAna?s R.Briant...
    611-620页
    查看更多>>摘要:Background Severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)is responsible for an important mortality rate worldwide.We aimed to evaluate the actual imputability of SARS-CoV-2 on the mortality rate associated with SARS-CoV-2-related illnesses in the pediatric intensive care unit(PICU).Secondary objectives were to identify risk factors for death.Methods This national multicenter comparative study comprised all patients under 18 years old with positive SARS-CoV-2 polymerase chain reactions(PCRs)[acute corona virus disease 2019(COVID-19)or incidental SARS-CoV-2 infection]and/or pediatric inflammatory multisystem syndrome(PIMS)recorded in the French PICU registry(PICURe)between September 1,2021,and August 31,2022.Included patients were classified and compared according to their living status at the end of their PICU stay.Deceased patients were evaluated by four experts in the field of pediatric infectiology and/or pediatric intensive care.The imputability of SARS-CoV-2 as the cause of death was classified into four categories:certain,very probable,possible,or unlikely,and was defined by any of the first threecategories.Results There were 948 patients included of which 43 died(4.5%).From this,26 deaths(67%)could be attributed to SARS-CoV-2 infection,with an overall mortality rate of 2.8%.The imputability of death to SARS-CoV-2 was considered certain in only one case(0.1%).Deceased patients suffered more often from comorbidities,especially heart disease,neurological disorders,hematological disease,cancer,and obesity.None of the deceased patients were admitted for pediatric inflam-matory multisystem syndrome(PIMS).Mortality risk factors were male gender,cardiac comorbidities,cancer,and acute respiratory distress syndrome.Conclusions SARS-CoV-2 mortality in the French pediatric population was low.Even though the imputability of SARS-CoV-2 on mortality was considered in almost two-thirds of cases,this imputability was considered certain in only one case.

    Interaction between ozone and paternal smoking on fetal congenital heart defects among pregnant women at high risk:a multicenter maternal-fetal medicine study

    Huan WangYan-Ping RuanSheng MaYa-Qi Wang...
    621-632页
    查看更多>>摘要:Background Evidence remains limited on the association between maternal ozone(O3)exposure and congenital heart defects(CHDs)in offspring,and few studies have investigated the interaction and modification of paternal smoking on this association.Methods Using a sample including pregnant women at high risk of fetal CHD(with metabolic disease,first-trimester viral infection,family history of CHD,etc.)from a maternal-fetal medicine study covering 1313 referral hospitals in China during 2013-2021,we examined the associations between maternal O3 exposure during 3-8 weeks of gestational age and fetal CHD in offspring and investigated the interaction and modification of paternal smoking on this association.CHD was diagnosed by fetal echocardiograms,maximum daily 8-hour average O3 exposure data at a 10 km ×10 km spatial resolution came from the Tracking Air Pollution in China dataset,and paternal smoking was collected using questionnaires.Logistic regression models were used to estimate adjusted odds ratios(ORs)and 95%confidence intervals(CIs).Results Among 27,834 pregnant women at high risk of fetal CHD,17.4%of fetuses were diagnosed with CHD.Each 10μg/m3 increase in maternal O3 exposure was associated with a 17%increased risk of CHD in offspring(OR=1.17,95%CI=1.14-1.20).Compared with paternal nonsmoking and maternal low O3 exposure,the ORs(95%CI)of CHD for smoking and low O3 exposure,nonsmoking and high O3 exposure,and smoking and high O3 exposure were 1.25(1.08-1.45),1.81(1.56-2.08),and 2.23(1.84-2.71),respectively.Paternal smoking cessation seemingly mitigated the increased risk of CHD.Conclusions Maternal O3 exposure and paternal smoking were interactively associated with an increased risk of fetal CHD in offspring,which calls for effective measures to decrease maternal exposure to O3 pollution and secondhand smoke for CHD prevention.

    The importance of post-COVID condition phenotypes characterization to decipher the mechanisms underlying this post-viral syndrome

    Jon Izquierdo-PujoSara Morón-López
    633-634页

    Noteworthy phenomena in pediatric inherited cardiomyopathy

    Jin-Hang JiangJie TianBo Pan
    635-637页